Professional Documents
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Pediatrics
Spotters in
Pediatrics
Editor-in-Chief
Anoop Verma MD FIAP FIAMS
Swapnil Nursing Home and Research Center
Civil Lines Raipur, CG 492001
Chapter Editors
Neurology Navneet Jain MS
Sanjay Sharma DM (PGI Chandigarh) Laparoscopy Surgeon
Consultant Neurologist Ramkinker Medical Institute
Modern Medical Institute, Lalpur, Raipur, CG Purani Basti, Raipur, CG
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Spotters in Pediatrics
© 2008 Anoop Verma
All rights reserved. No part of this publication should be reproduced, stored in a retrieval system, or transmitted in
any form or by any means: electronic, mechanical, photocopying, recording, or otherwise, without the prior
written permission of the editor and the publisher.
This book has been published in good faith that the material provided by contributors is original. Every effort is
made to ensure accuracy of material, but the publisher, printer and editor will not be held responsible for any
inadvertent error(s). In case of any dispute, all legal matters are to be settled under Delhi jurisdiction only.
ISBN : 978-81-8448-249-2
AK Dutta
Vice-Principal, Director Professor and HOD, Pediatrics
Kalawati Saran Children’s Hospital
Lady Hardinge Medical College
New Delhi
Foreword
It is a matter of great privilege and pride for me to learn about the launching of the publication
Spotters in Pediatrics by Dr Anoop Verma, ex-National Vice-President of IAP. The field of
pediatrics has tremendously expanded in the last decade with expertise in various sub-specialties.
In addition the recent advances in the field of perinatology, newborn care, molecular biology,
drug therapy, genetics and emerging-reemerging infection have added new dimensions in the
understanding the childhood problems for the practicing pediatrician. Thus, it has become
necessary for the medical professional to update himself with the recent know-how in the field
of newborn and childhood diseases from the diagnostic and management point of view. This
book is an excellent collection of clinical photographs of common to rare pediatric diseases
along with short text for ready reference. It will definitely prove to be a guiding source of
knowledge for the busy practicing pediatrician and will serve as ready reckoner. I would like
to congratulate Dr Anoop Verma for this innovative academic venture.
With personal regards and best wishes
Uday Bodhankar
Deputy Secretary General CAMHADD UK
International Council Member ASPR Japan
Chairman ICMCH and INSPCAN India
Hon. Prof. of Pediatrics – IGMC Nagpur
Past President IAP / ISTP / SCM – IPA
Ramdaspeth, Nagpur 440012 MS, INDIA
Ph: (R) 0091- 712- 2425020 / 2445554
(H) 0091 -712- 2459090 / 2422505
FAX : 0091- 712- 2428145 / 2421017
Email : ubodhankar@hotmail.com
Foreword
One of the essential requirements of scientific progress and research is correct documentation
of facts. In western countries scientific data and observation were meticulously recorded and
stored. Out of 2.1 billion children below first year of life, the 3/4th are in developing countries,
have very high under-five mortality.
Pediatrician in India has contributed a lot in reducing infant mortality and in various
childhood illnesses. Contributions of Indians in world literature are still below expectation.
“Spotters in Pediatrics” by Dr Anoop Verma will fill this gap to great extent.
Dr Anoop Verma is very hard working and sincere pediatrician with a habit of recording
observations, which has given rise to this monograph for which he deserves great compliments.
Spotters in Pediatrics should find its place in bookshelf of practicing pediatricians, graduates
in pediatrics and general practitioners. It should stimulate them for good record and for bringing
more books like this in future.
Anoop Verma
Acknowledgements
One’s body may be handsome,
wife beautiful, fame excellent and varied,
and wealth like unto Mount Meru;
but if one’s mind be not attached
to the lotus feet of Guru,
what thence, what thence, what thence ?
Adi Shankara
Guruvastakam, Verse 1
In my development as a pediatrician, apart from my destiny, there was huge share of my
devoted teachers, who have virtually paved my way to clinical pediatrics. My deep regards
and respect to my teachers Late Prof DS Dave, Prof NG Prasan, Padmashree Prof AT Dabke
and Prof Ashok Rawat. I have got great encouragement and blessings from stalwarts in pediatrics
Prof YK Amdekar, Prof AK Dutta, Prof Uday Bodhankar, Prof HP Singh. From my core of
heart I convey my sincere gratitude to them.
I convey my thanks to our inspirational National President of IAP 2007 Dr Naveen Thacker,
who virtually introduced me to publisher, and given me the initial push.
I am indebted to our past National Presidents Dr Raju Shah and Dr Nitin Shah for keeping
me on track by their able guidance.
My hearty thanks to my chapter editors Sanjay Sharma, Pulak Parag, Navneet Jain, Arun
Agrawal, Ashok Gupta and Ramesh Bhatt. Their infectious interest has virtually lessened my
workload.
To come up with plethora of clinical photographs is not easy task, but due to important
contributions from contributors. I convey my deep sense of regards to the contributors of this
book.
A sense of deep regards to my colleagues at Chhattisgarh and my friends, namely DK Sur,
ML Rathi, KP Sarbhai, Vijay Makhija, Ashwani Agrawal, SK Mandrik, KW Deoras, Pradeep
Sihare, Rakesh Sahu, Madhu Shree Deshpande, Ashok Mehta and Lokesh Shadangi their
powerful support, encouragement and guidance has always lifted my morale. I am indebt to all
of them.
My due regards to M/s Jaypee Brothers Medical Publishers (P) Ltd., especially Shree Tarun
Duneja, General Manager, (Publishing), for his interest and support.
Last but not the least, my wonderful colleague and friend Shyam Sharma, who has kept me
free to complete this life time work.
Lastly, I am overwhelmed to convey my gratitude to my whole family Sudhir, Nalini,
Manoj, Aarti, Soumiya, Anuj and Siddhi for creating encouraging milieu favorable to this
work.
Contents
CHAPTER 1 INFECTIOUS DISEASES ------------------------------------------------------ (1–14)
Measles ---------------------------------------------------------------------------------------------------- 1
Mumps ----------------------------------------------------------------------------------------------------- 3
Chickenpox ----------------------------------------------------------------------------------------------- 4
Molluscum contagiosum -------------------------------------------------------------------------------- 7
Warts (Verrucae) ----------------------------------------------------------------------------------------- 7
Tubercular lymphadenopathy --------------------------------------------------------------------------- 8
Scrofuloderma -------------------------------------------------------------------------------------------- 9
Lupus vulgaris -------------------------------------------------------------------------------------------- 9
Tetanus ----------------------------------------------------------------------------------------------------- 9
Tetanus neonatorum ----------------------------------------------------------------------------------- 10
Kawasaki disease ----------------------------------------------------------------------------------------11
Hydatid disease ------------------------------------------------------------------------------------------11
Ascaris lumbricoides ---------------------------------------------------------------------------------- 12
Herpes zoster ------------------------------------------------------------------------------------------- 13
1 Infectious Diseases
DEFINITION
Measles (derived from Latin misellus meaning ‘miserable’) is a highly contagious viral disease
sometime called as rubeola (Latin rubeolus = reddish) or morbilli (Latin morbus = disease).
It is caused by an RNA virus called as paramyxovirus.
Human is the only known natural host for the measles virus. There is no natural animal
reservoir of the virus, although monkeys can be infected following human contact.1
CLINICAL FEATURE
Its incubation period ranges from 10 to 12 days. It is most infectious during the early
prodromal phase of the disease when large quantities of virus are present in nasopharynx
secretion and rashes have yet to develop.
It is characterized by (3C), Cough, Coryza and Conjunctivitis. The exanthem of the disease
is erythemetous papule (Morbilliform) is a significant feature of eruption. It starts along
hairline and proceeds downward. Peak eruption occurs at third day coincides with peak of
the fever and constitutional symptom. Rashes resolves by 5th and 8th day, later branny
desquamation as brown staining of skin follows.
Enathem: Koplicks spot seen 2 days before and 2 days after the rash seen opposite lower
molar. It is white popular dots on an erythematous buccal mucosa looks like ‘Salt grain’
sprinkled on a red background. A transverse line of conjunctival inflammation sharply
demarcates along the eyelid margin called as Stibsons line.
2 Spotters in Pediatrics
Fig. 1.1: A 6-year-old patient Fig. 1.2: Morbilliform rashes Fig. 1.3: Conjunctivitis with peculiar rash
presented with cough, coryza,
fever, photo-phobia and
classical rash
COMPLICATIONS
Complications of Measles is mainly respiratory, e.g. Otitis media, Pneumonias (Interstitial
pneumonia and secondary bacterial pneumonia), Laryngotracheal bronchitis. Neurological-
Febrile seizures, SSPE, Encephalitis. Miscarriages, premature births and congenital
malformations have been occasionally associated with measles.2 Other complications are
diarrhea, hepatitis, appendicitis, corneal ulceration, and myocarditis.
Subacute Sclerosing Pan Encephalitis (SSPE) is chronic measles encephalitis, having 8
years average age of onset. As a rule past infection of measles at early stage is always there
before the age of two years. It presents as personality change and declining school
performance. Fundus examination at early stage shows pigmentary changes in the macula.
Myoclonic seizures usually develops next, classical EEG changes are evident in the form of
periodic burst of spike and wave complexes (approximately 5 to 7 seconds). Later there is
rapid neurological deterioration to spasticity, dementia and involuntary movement develops
and later dementia supervenes. Anti measles antibody in csf is usually positive. Intraventricular
alpha interferon gives some improvement in few cases. Prognosis is usually poor.
TREATMENT
Is always supportive. Bed rest, antipyretics and adequate fluid intake are indicated. Isolate
from non-immune children until five days after the rash has appeared.
Pulmonary complications are usually due to secondary bacterial infections and has to be
treated by antibiotics.
Currently UNICEF and WHO3,4 has recommended vitamin A supplementation to all cases of
measles in developing country. Children 6 months-old to 1 year-old: 100,000 IU by mouth
as a single dose, repeated the next day and again at 4 weeks. Children 1 year-old or older:
200,000 IU as a single dose, repeated the next day and again at 4 weeks.
Infectious Diseases 3
PREVENTION5
Measles vaccine is given at age of 9 months, subcutaneously on the upper arm or anterolateral
thigh. It can be given even at 6 months in measles outbreaks. This vaccine is a live attenuated
virus vaccine, it results in actual infection and multiplication in the body, which mimics
actual infection of measles but is usually asymptomatic. Point of precaution while
reconstitution of multidose measles vaccine is to maintain strict asepsis has, since there is
no antibacterial contents in the vial, some cases of staphylococcal sepsis/toxic shock
syndrome is seen.
MMR vaccine is recommended to all children by IAPCOI. For infants given measles vaccine
at 9 to 12 months MMR vaccine is given between 15 and 18 months. If measles vaccine
was missed altogether then one dose of MMR vaccine is given at or after 12 months.
DEFINITION
Mumps (from an old English word meaning ‘Grimace’) or endemic parotitis is an acute
infectious disease marked by a painful enlargement of one or both parotid salivary gland.
RNA virus of genus paramyxovirus causes it.
CLINICAL FEATURE
Clinical feature is characterized by pain and swelling in one or both parotid glands. The
gland fill the gap between posterior border of mandible and mastoid and then extends
downward and forward. The swelling pushes earlobe upward and outwards and the angle
of mandible is no longer visible. The swelling subsides within 3 to 7 days.
The swelling is painful and tender especially elicited by tasting sore liquid such as lemon
juice. There is redness and swelling in the opening of stensons duct. In severe cases swelling
and edema may approach manubrium and upper chest because of lymphatic obstruction.
It is estimated that 20 to 40 percent of infection results in no symptoms, 40 to 50 percent is
nonspecific symptoms and in only 30 to 40 percent in typical acute parotitis.6
Diagnosis is usually clinical. Elevated serum amylase, IgM and IgG Ab against mumps virus
are detectable and lastly viral culture.
COMPLICATION
Meningo encephalitis is most common, occurs in 5 to 15 percent6 cases. Ten percent of
these cases seen over 20 yrs, mortality from this condition accounts to 2 percent.
Orchitis and epididymitis—less commonly seen in preadolescent boys, it accounts to 15-35
percent in adolescent boys. Orchitis follows parotitis after 8 days. It can occur without
parotitis. Abrupt onset, fever with chills and rigors, nausea and vomiting, lower abdominal
pain. Right testis is often involved. Infertility is rarely seen with bilateral involvement.
Pancreatitis: There is abdominal pain, persistent vomiting and fever. The pain is epigastric
and steady, often resulting in the child assuming antalgic position with hips and knees
4 Spotters in Pediatrics
Fig. 1.4: Enlarge parotid gland Fig. 1.5: Two brothers suffering from mumps
(Beware of spread of infection to unprotected ones)
flexed, sitting upright, or lying on the side. The serum amylase is typically elevated for up 4
days. Ultrasonography and CT scan have major role in diagnosis. Other complication
includes—oophoritis, myocarditis, arthritis, thyroiditis, deafness.
Recurrent parotitis: It is common to notice recurrent idiopathic enlargement of parotid
gland. It is unilateral but can involve other side also. It produces mild pain and usually lasts
2 to 3 weeks. Commonly notice in spring. It starts at age of 6 years and persists for many
years. Congenital or autoimmune defects of the duct are presumed to be the cause of
recurrence. Each episode last for few days to 2 weeks before spontaneous resolution occurs.
TREATMENT
Treatment is always symptomatic: Antipyretics/ acetaminophen/ibuprofen. Bed rest, diet.
Local warm or cold pack in the region of swelling. Good oral hygiene.
Isolation of patient till swelling persists. The period of infectivity is 7 days before and 9 days
after the onset of parotitis.
Sialogogue agents (vitamin C, lemon chewing gums). It is said it drain the saliva and prevents
stagnation and later secondary infection. Sore items induces pain in parotid if it is
discomforting to patient it can better avoided.
Antibiotic if ascending infection from mouth is suspected.
Orchitis should be treated by local support and bed rest. Mumps arthritis is treated with
NSAID/Corticosteroid.
Pancreatitis: Pain relief, fluid and electrolyte balance to be maintained. Nil orally till serum
amylase returns to normal and clinical symptoms has resolved.
PREVENTION7
Mumps vaccine is given as component of MMR vaccine given between 15 and 18 months.
Primary infection occurs by circulating virus in the nasopharynx through droplet inoculation.
Local replication occurs here leading to viremia and dissemination by circulating mononuclear
cells.
It is highly contagious 1 to 2 days before and shortly after onset of rash, but lesion are
infectious until they have turned into dried crusts.
CLINICAL FEATURES
Its incubation period is 14 to 16 days. The disease is characterized by mild fever and
constitutional symptoms in children.
The rashes appear as crops and acquire a characteristic centripetal distribution (more lesion
are found on torso than on face and extremities). It rapidly progresses from red macule to
vesicle, pustule and crusts within 3 to 4 days. The rash produces intense itching. Lesion is
also seen in scalp and mucous membrane. The classical lesion is a vesicle surrounded by
erythematous base described as ‘a dew drop on rose petal’.
Varicella is most severe above 13 years.
The vesicles get secondarily infected by beta hemolyticus Streptococcus (GBHS) may result
into streptococcal toxic shock syndrome, necrotising fasciitis Figs 1.8A and B, or purpura
fulminance.
Apart from other complication acute cerebellar ataxia is common, but is transient and may
improve of own.
Immunity following chickenpox is life long and hence, it doesn’t recur, but the virus may
persists in the dorsal root ganglia after an acute infection and may get reactivated to cause
shingles or herpes zooster. Its involvement is always unilateral dermatomal distribution and
stops in the midline.
6 Spotters in Pediatrics
A B
Figs 1.8A and B: (A) Necrotizing fasciitis (B) Spread of secondary bacterial
infection leading to extensive necrotizing fasciitis
TREATMENT
In healthy children varicella is a benign, self-limiting disease with low rate of complication.
It usually requires symptomatic treatment.
Analgesics/antipyretics/local soothing agents and antibiotics if secondary infection is
suspected. Aspirin should not be used to avoid Reye’s syndrome.
Acyclovir is recommended for normal individual 13 years and above and for immuno-
compromised host. Acyclovir in dose of 20 mg/kg/dose 4 times a day for 5 days within 24
hours of onset of skin lesion will reduce the severity of the disease.
In uncomplicated varicella, acyclovir is not recommended but on choice can be used to
modify the course of disease. Acyclovir doesn’t hampers development of immunity against
varicella.
In complicated varicella like encephalitis and viral pneumonia, intravenous acyclovir (10 mg/
kg/dose 8 hrly) must be used. The treatment must be continued for 7 days or till no fresh
lesions appears for 48 hours which ever is later.
PREVENTION8
Active Immunization
Varicella vaccine (live attenuated).
IAPCOI opines that varicella vaccine is not recommended for universal immunization in
India at present. One has to emphasize the benign nature of and rarity of complications with
varicella in young children.
It may be offered to children of high socioeconomic status at 12 months to 12 years single
dose and for person over 12 years of age, two doses, 4 to 8 weeks apart.
Other indications are children with chronic heart and lung diseases, HIV infection ( but with
CD4 counts above 25% of age related norms), in leukemia (but in remission for at least 1
year), household contacts of immunocompromised children.
Infectious Diseases 7
Passive Immoprophylaxis
Varicella zooster immunoglobulin (VZIG).
Given to susceptible at risk of developing severe varicella and in Immunocompromised
children.8 To neonates whose mother experienced onset of varicella 5 days, or less before
delivery or within 48 hours after delivery.
TYPES
Common wart (Verruca vulgaris): They are discrete flesh colored, single or multiple papules
with a rough surface more common in hands but may occur anywhere.
Flat wart (Verruca plana): They are grouped as flat topped, flesh colored or pigmented
papules with smooth surface, common on the face.
Anogenital wart (Condylomata accuminata): It is cauliflower like or pink filiform sessile
papule with rough surface. It can be acquired from birth canal or acquired from sexual
abuse.
Plantar wart.
Periungual wart.
TREATMENT
Conservative: No treatment spontaneous regression occurs within 2 years in most cases.
20 percent Podophylline is applied with a toothpick twice daily for 3 days. Podophylline is a
plant extract, is a microtubule inhibitor that blocks the cell division. In excess doses it is
neurotoxic and produces areflexic coma.
8 Spotters in Pediatrics
A B
Figs 1.10A and B: (A) Condylomata in 7 months old child (B) Venereal wart in an adolescent boy
A B C
Figs 1.11A to C: Tubercular lymphadenopathy. (A) Large solitary cervical lymph node proved to be tubercular
on histopathological examination. (B) X-ray chest of the same patient depicting hilar adenopathy. (C) Scrufuloderma
over cervical region
Infectious Diseases 9
Treatment and Prevention
• Short course chemotherapy (as for Pulmonary TB).
• Paradoxical enlargement as a result of hypersensitivity reaction occurs occasionally
during or even after completion of therapy.
• Surgical excision is sometime necessary.
• Prevention as for pulmonary tuberculosis.
Scrufuloderma (Fig. 1.11C) results from enlargement, cold abscess formation, and breakdown
of a lymph node, with extention to the overlying skin. Linear or serpiginous with dissecting
fistulas and subcutaneous tracts studded with soft nodule may develop. Spontaneous healing
may take years and eventually a cord like keloid scar results.
A B
Figs 1.12A and B: Lupus vulgaris: (A) Lupus vulgaris in a nine-year-old boy. (B) Lupus vulgaris in different parts
of the body. Courtesy-Dr Ranbir Pal, Dr Ankur Barua, Dr Pradeep Barua, Sikkim Manipal Institute of Medical
Sciences
A B
Fig. 1.13A and B: (A) Tetanus in grown-up child, note the facial expression
during the spasm (B) Spasm in neonate
at myoneural junction and by countering the inhibitory influence on muscle reflex arc. It
results in increased activity of lower motor neuron, which produces muscle rigidity and
spasm. Once fixed the toxin cannot be neutralized by antitoxin.
CLINICAL FEATURES
After an incubation period of 5 to 10 days painful stiff jaw muscle (trismus) appears followed
by difficulty in opening the mouth (Lock jaw). Stiffness spreads to neck, back, chest and
abdomen. This is rigid stage of the disease.
Intermittent painful contraction of the muscle then starts, the spasmodic stage. The spasm
causes grimacing of face (risus sardonicus), and arching of neck and back (opisthotonus).
Spasm of respiratory and laryngeal muscle causes respiratory failure.
TREATMENT
Ideally should be treated in intensive care.
Human Tetanus Immunoglobulin (TIG) 3000 to 6000 IU IM followed by debridement of the
wound. The role of ATS, i.e. antitetanus serum is now less important. It is only given when
TIG is not available. It is given 50,000 to 100,000 units half IM and half IV.
Benzyl penicillin IV or IM for 10 days to eradicate the existing foci of infection and stop
further toxin production.
Sedation by diazepam, but should be nursed in quit environment. Tracheostomy is indicated
in severe cases, to guard against the life threatening laryngeal spasm.
Prevention: Tetanus is prevented by immunizing children by DPT under the age of five and
by TT thereafter following the IAP immunizing schedule.
A B C
A B
Figs 1.15A and B: Hydatid disease. (A) Contrast CT scan showing multiple hydatid cyst.
(B) CT chest showing hydatid cyst in lungs
In humans, the ingested ova develop to form embryo worms, which penetrate the gut wall
and invade the tissues. Most of the embryos are destroyed, but one or more may survive
and become encysted, usually in the liver.
Usually there is single cyst, but in 30 percent cases there are multiple cysts, usually in single
organ. Cysts have been described in every organ but favored sites are liver, lungs, spleen,
brain, eyes, heart, bone and genitourinary system.
Hydatid cysts reach a diameter of 1 cm in 5 months and continue to grow as large as 35 cm
containing liters and ‘Hydatid sand’.
Clinical features: infection become manifest either because of expansion of cyst or by
rupture and release of the cyst contents. Clinically the cyst present as a palpable, slowly
growing liver tumor or as partially calcified lesion on chest X-ray. Large cysts in the liver
may rupture spontaneously, causing sudden pain, fever allergic rash and eosinophilia. Cysts
may calcify gradually with the death of all living worm tissue.
Diagnosis: Usually by radiography, ultrasongraphy and CT scan. Serological tests such as
indirect hemogglutination or ELISA can be of value but false negatives occur, particularly in
pulmonary disease and in children. The Casoni skin test is less reliable than serological test.
Treatment: Albendazole in three cycles of 28 days each may succeed in killing infective
cysts. Hepatic Hydatid cysts are very slow growing and may not require any treatment
unless large and causing compression. Operative removal of cyst under pre- and post
albendazole treatment regimen is the mainstay of therapy. Calcified cysts should be left
alone. Non-surgical aspiration of the cyst is dangerous and should be avoided.
A B C
Figs 1.16A to C: Ascaris lumbricoides infestation. (A) Child harboring hundreds of roundworm (B) Adult
worm in stool. (C) Abdominal USG revealed multiple horizontal streaks depicting worm body
mature for 2 to 3 weeks in the soil. The spread is fecal-oral with an incubation period of 4
to 8 weeks.
The ingested embryonated eggs hatch in the duodenum and the larvae penetrates through
the wall into the blood or lymphatics. They are carried to the liver, heart and thence to
pulmonary circulation, here they penetrate through the capillaries into the alveoli. They then
ascend the bronchial tree, enter the esophagus and pass down to the small intestine. Here
they mature, mate and produces eggs 45 to 60 days after ingestion.
The only symptoms in majority are the excretion of worms or eggs in the stool. In the small
percentages of cases gastrointestinal or pulmonary symptoms may arise, probably related
to the number of eggs. Loffler’s syndrome occurs when the larva migrates through the
lungs. Cough, wheezing and breathlessness are the most important common presenting
features. Heavy worm load in children may cause abdominal pain and features of intestinal
obstruction and failure to thrive.
Diagnosis is usually by passage of adult worm in stool, detection of ova in stool. Barium
meal examination, occasionally adult worm can be picked up in abdominal ultrasonogram.
Treatment consists of use of antihelminth drugs like albendazole, mebendazole, etc. No drug
is effective in pulmonary phase of infection.
A B
Figs 1.17A and B: Herpes zoster. (A) Note the red patche with vesicle over anterior and lateral chest.
(B) Note the same strip of vesicle on backside, the dermatomal distribution
REFERENCES
1. Meyer HM et al. Am J.Dis. Child 1062; 103: 307.
2. Jes Persen CS et al. Acta Pediatri Scand 1977; 66: 376.
3. Measles: The urban Challenge, UNICEF NY. 1991.
4. WHO/UNICEF: Wkly Epidemiol Rew 1987; 62: 133.
5. IAP guide book on immunization 2004; 16-18.
6. CDC Data. Mumps surveillance Jan 1977, Dec 1982. US Dept of Health and Human Service 1984.
7. IAP guide book on immunization, 2004; 38.
8. IAP guide book on immunization, 2004; 25-26.
Chapter
2 Dermatology
DEFINITION
Atopic dermatitis or eczema is an itchy, dry, hypersensitive skin disorder affecting many people.
It is common in children but can occur at any age. It is not infectious or contagious.
The exact cause of atopic eczema is unknown. It may be hereditary. The patient or some
family members may have other hypersensitive conditions like asthma or hay fever. Infections
like Staphylococcus aureus, herpes simplex virus help in flaring of the dermatitis.
The rash may appear red, wet and weepy or dry, thickened and scaly. Scratching often
aggravates the rash. The skin thickens and becomes darker. It is a chronic condition. It can
affect any part of the body, particularly the elbow bends, back of the knees and the neck.
Infantile Type (seen from 2 months to 2 years). Classically cheeks and shin are involved.
It produces intense itching, lesion is dry, erythematous, excoriated plaques may then become
lichenified and hyperpigmented. Spontaneous remission is common by 2 years.
Childhood Type—Seen above 5 years, seen at flexural area, neck, wrists antecubital and
popliteal areas.
PATHOGENESIS
There are two hypotheses:
1. Increased in cyclic AMP phosphodiesterase activity, and
2. Decrease in cell mediated immunity both of these are responsible in over activity of the
T-helper cell (TH2) subset of T-lymphocyte and thus, leads to significant inflammation.
16 Spotters in Pediatrics
A B
Figs 2.1A and B: (A) Atopic dermatitis. The lesions in childhood form are flexural in distribution as
contrast to infantile form where there is axillary involvement. (B) antecubital areas involvement
MANAGEMENT
1. Care of dry skin by taking brief bathing with mild soap, and patting (not rubbing) the dry
skin leaving moisture. Application of moisturizer or emollients after bath like hydrophilic
petroleum, etc.
2. Steroids: Mild steroids like hydrocortisone is applied over face and in infants. Moderate
potent steroid like (clobetasone butyrate 0.050%) for subacute lesion. The potent steroids
like betamethasone dipropionate 0.050 percent, flucinolone acetornide and mometasone for
chronic lesions.
3. Antibiotics are used for infected cases. Beta lactam antibiotics are best-suited drugs here for
at least 2 to 3 weeks.
4. Antihistamines: Hydroxyzine 1mg/kg/day at bed time double the usual dose. Other drugs
used are diphenhydramine, doxepin, loratidine, cetrizine.
DEFINITION
Hair loss, alopecia, is the result of changes in the hair follicle. If the changes are transient (as in
alopecia areata) and non destructive of the hair matrix, there is eventual regrowth. Condition
that causes destruction of the hair matrix (such as folliculitis decalvans or physical trauma) lead
to the formation of scars or atrophy resulting in permanent alopecia.
CLASSIFICATION
It is classified into two groups: Non-scarring alopecia usually divided into localised or diffuse,
and cicatricial or scarring alopecia.
A B
Figs 2.2A and B: Alopecia. (A) Alopecia areata in a 2-year-old boy. (B) Tinea capitis.
Circumscribed area of hair loss without scalp change and hair broken off at the follicular orifice
ANAGEN EFFLUVIUM
It is an acute, severe diffuse inhibition of growth of anagen follicles; the loss is greater than 80-
90%. It is caused by radiation and cancer chemotherapeutic drugs and hypervitaminosis A.
18 Spotters in Pediatrics
Fig. 2.3: Telogen effluvium. Note acquired
diffuse nonscarring alopecia
CLINICAL FEATURES
The skin lesions are seen of many types erythematous macule, purpuric macule, papules,
blisters leading to erosions. Target or iris lesion are quite specific, individual erosions are <
3 cm in diameter.
Dermatology 19
A B C D
Figs 2.4A to D: Stevens–Johnson syndrome—In three-year-old child, rashes appeared after starting
cotrimoxazole for diarrhea, note the progress of the lesion. The beginning of the eruptions (extreme left),
subsequent evolution of the rashes in the middle and the recovery (extreme right).
It may precede upper respiratory symptoms and may cause exudative and erosive stomatitis,
conjunctivitis, or vulvovaginitis, arthritis, arthralgia, pneumonia, and hepatitis.
TREATMENT
Multidisciplinary approach like involvement of pediatrician dermatologist and ophthalmic
surgeon.
Offending drug to be discontinued.
Management of fluid and electrolyte imbalance.
Skin care in the form of warm tap water compresses and application of petroleum ointment
over denuded area.
Use of corticosteroid is controversial. If used at all it has to be used early and if there is no
response within 4 days it has to be discontinued. Prednisolone has to be used in dose of
2 mg/kg/d.
PROGNOSIS
Produces significant morbidity and has a protracted course. Its mortality ranges from 5 to 15
percent.
A B C D
Figs 2.5A to D: SJS-Erythematous, dark macules along with mucosal lesions in a two-year-old child who was
kept on carbamazepine for seizure. See the evolution of the rash from extreme left to extreme right, the
recovery.
20 Spotters in Pediatrics
CLINICAL FEATURES
Clinically skin becomes necrotic dark colored and peels off in sheets measuring > 3 cm.
The bullae and erosion involve > 30 percent of body area. Face and upper part of the body
is prominently involved. Nikolski sign is positive that is rubbing the adjacent normal skin of
blister enlarges the erosion but it is not specific for TEN. Apart from skin involvement there
is involvement of mucous membrane in the form of exudative stomatitis, purulent
conjunctivitis, and vulvovaginitis.
It has very explosive onset, within 24 hours disease takes its full-blown shape.
Mortality is as high as 30 percent.
Fig. 2.6: Dark skin peels off in sheets measurung > 3 cm,
bullae and erosion involves more than 30 percent area
TREATMENT
Treatment should be taken in the burn unit with simultaneous involvement of ophthalmologist,
dermatologist and pediatrician.
Search and stop the precipitating factors. Adequate fluid and electrolyte balance has to be
maintained.
Antibiotics to control the infections.
Skin care has to be as in burn cases, wash the skin by normal saline, remove the loose skin
and blisters, apply petroleum jelly to provide barrier.
A B C
Figs 2.7A to C: Henoch-Schönlein purpura. (A) A 10-year-old boy presented with severe sore throat. Examination
of throat revealed white patch over the tonsils, throat swab culture identifies the streptococcal beta hemolyticus.
The white patches have to be differentiated from white patch of Infectious mononucleosis, where other
features of IMN are also present. This patient was kept on adequate penicillin coverage. A review, after a week,
the patch disappeared but parents noticed purpuric rashed over lower limb, hand and buttocks which was
palpable over lower limbs. (B and C) The platelet count was normal patient was clinically diagnosed as a case
of HSP
ETIOLOGY
Etiology is unknown but typically it is precipitated by upper respiratory infection. It may be
precipitated by bacterial infection (group A beta hemolytic Streptococcus), viral infection (human
parvovirus B19), drugs like captopril, ciprofloxacin, aminosalicylic acid, insect bite and some
unknown allergen.
PATHOGENESIS
Pathogenesis is uncertain. Probably high frequency of HLA-DRB1*07. Increase in serum
concentration of cytokines tumor necrosis factor alpha (TNF alpha) and inter leukin 6 seen
in active disease. There is increase in antistreptolysin O (ASO) titre to suggest involvement
of group B Streptococcus. There is deposition of IgA and C3 in small vessel of skin and
glomerulus inducing vasculitis seen by immunofluorescence technique. This induces
inflammation.
CLINICAL FEATURE
The onset may be acute or insidious may take weeks to month.
GIT-symptoms- (75%) cases. Colicky abdominal pain, vomiting, gross or occult blood in
stool. Intussusception is suggestested by empty right lower abdominal quadrant and red
currant jelly stool.
Joint symptoms- (>75%) localised at knee joint and ankle.
Renal involvement- (25% to 50%) Hematuria and proteinuria.
CNS involvement- rare but seizure, paresis and coma occurs.
COMPLICATIONS
The major complications are nephritic syndrome, hypertensive encephalopathy, chroni
glomerulonephritis (5% cases) and bowel perforation and intussusception some times
testicular torsion is also reported.
TREATMENT
There is no definite treatment and is mainly supportive. Most of the complaints are self-
limiting.
Bed rest, bland diet.
Acetaminophen is used to control fever, pain and edema.
Prednisolone in dose of 1 to 2 mg/kg BW is used in severe gastrointestinal renal and CNS
symptoms and it produces dramatic improvement.
Aspirin in case of thrombotic episodes.
Cochicine in alternate days dose in case of rheumatic nodule.
PROGNOSIS
HSP is a self-limiting disease with overall excellent prognosis. Less than one percent cases
develop chronic renal disease, therefore, serial urine analysis is required and follow-up renal
surveillance if initial symptoms were pertaining to renal disease.
TREATMENT
Low potency topical steroids applied twice a day for several days.
Keratolytic shampoo applied over scalp for several minutes, while scalp is scrubbed with a
soft brush or toothbrush to remove scale and crust. Low potency steroids is then applied
after shampoo. This procedure is then applied daily till resolution occurs.
Oral Biotin therapy is considered in biotin responsive dermatitis.
Dermatology 23
Fig. 2.8: Seborrheic dermatitis-
Greasy scales involving scalp, face
and eyebrows.
HEMANGIOMA-VASCULAR MALFORMATION
Superficial Capillary (Port wine)
Mixed Telangiectatic
Deep Hypertrophiccapillary (angiokeratoma)
Venous (cavernous)
Arteriovenous
Lymphatic
Cutis marmorata telangiectatica congenital
CLINICAL FEATURE
Types
Superficial (Strawberry hemangioma) are most common type which appears between 2nd
and 4th week of life. They are asymptomatic, blanches and compressible in nature. They
are bright red and popular.
Deep (Cavernous) hemangioma—present at birth, bluish and nodular.
Mixed superficial and deep.
24 Spotters in Pediatrics
Fig. 2.9: Hemangioma of lower lip Fig. 2.10: Portwine stain over Fig. 2.11: Hemangioma right
right half of face cheek in an infant with
cavernous component
Only 20 percent hemangioma are present at birth, rest 80 percent arise between 2 and 8
week age. At the time of presentation it is difficult to predict what form and size of hemangioma
will eventually takes place.
Natural course of hemangioma- at age 4 to 8 weeks there is rapid growth phase, which
continues until the infant is 6 to 9 months of age. This rapid growth phase is characteristic
of hemangioma even more than growth of infant. At this stage it is soft and compressible.
The phase is followed by phase of regression that begins at second year, and by 5 years age
regression is 50 percent and by 9 years almost 90 percent hemangioma regresses.
Natural course of vascular malformation- usually present at the time of birth and expresses
slow growth.
Complication- in the form of ulceration and infection. It compromises the function of the
part which depends upon the site of its presence. Some times hemangioma rapidly enhances
in size and is associated with life threatening hemorrhages and features of shock and is
called as Kasabach-Merritt syndrome. This is due to trapping of circulating platelets and
coagulation factor.
TREATMENT
All hemangiomas which have potential to interfere with vital function should be treated,
however, other indications are as follows:
Kasabach-Merritt syndrome
High output cardiac failure
Obstruction of vital function
Ulceration
Infection
TREATMENT OPTIONS
Oral glucocorticoids- 30 to 60 percent patient responds to oral prednisolone 2 mg/kg/d
morning doses for 4 weeks and later tapering it to alternate days. Responsive hemangioma
Dermatology 25
will demonstrate effect of treatment within 7 to 10 days as softening of tumor, lightening of
color or a noticeable decrease in growth rate.
Intralesional injection of triamcinolone acetonide solution (40 mg/ml) 1 to 3 mg/kg/ every 2
weeks time.
Interferon alpha 2 a- 1 million U/m2/day subcutaneous injection till regression is complete
(Fever and 10% incidence of spastic diplegia is reported by its use).
Vascular specific pulse dye laser has been shown to induce regression in 75 percent cases
of hemangioma with ulceration. Non-specific laser therapy such as a carbon dioxide or the
neodymium: YUG (Yttrium aluminium, garnet) may cause scarring and hamper outcome.
SYNONYM
Nevus Fascoceruleus Ophthalmomaxillaris, Nevus Fascoceruleus Acromiodeltoidalis.
DEFINITION
It is pigmentary disorder affecting specific anatomic location. It is due to melanocytic arrest
in the dermis, which is an abnormal location for melanocyte.
It is an area of extensive blue patches like area of dermal melanocytic pigmentation of the
sclera and the skin adjacent the eye. Pigmentation apart from sclera also involves conjunctiva,
iris, and optic nerve, cheeks forehead, scalp, alae nasi and ears.
26 Spotters in Pediatrics
Fig. 2.13: Nevus of ota
Lesion presents in 60 percent cases at birth. Rest appear at puberty. In few cases it is
acquired.3 They are mostly unilateral.
The skin lesion is permanent in nature and can be removed by Q- switched ruby laser for
cosmetic reason.
NEVUS OF ITO
The area of involvement is acromioclavicular region and upper chest.
Generalized EBS- is also an autosomal dominant condition. Onset may be at the time of birth
or between 6 months and 12 months age. They are more numerous on distal extremities.
Disease worsens in warm weather.
Distrophic epidermolysis bullosa- may be autosomal recessive and dominant type. They
may have appearance of blisters at birth and associated with scar formation, growth
retardation, dental and nail changes.
Dermatology 27
A B
Figs 2.14A and B: (A) Epidermolysis bullosa simplex lesions over soles of 4 year old
child (B) Junctional epidermolysis bullosa in new born.There are multiple moist erosions
involving fingers and perioral skin, and pressure points. Few bullae are large in size.
Nails could also be affected. Hands and feet are relatively spared. Treatment for the
condition is supportive. Photograph courtesy by Dr Ramesh Bhatt, KMC, Manipal.
DEFINITION
AE is an autosomal recessive disorder of zinc transport. It begins 1 to 2 month after birth
lesions around acral region, recurrent diarrhea and failure to thrive.
CLINICAL FEATURE
The erosions appear red moist areas over distal extremities including hands and feet, perioral
and perineal area. Hairs may show peculiar red tint. Eye involvement in the form of
photophobia, conjunctivitis and corneal dystrophy. Other features are chronic diarrhea,
stomatitis, glossitis, paronychia, nail dystrophy, growth retardation and delayed wound
healing.
28 Spotters in Pediatrics
Fig. 2.15: Acrodermatitis Fig. 2.16: Lesion over arm, legs and buttocks
enteropathica- Crusting perioral lesion
DIAGNOSIS
Diagnosis is usually clinical supported by serum zinc level and serum alkaline phosphatase
enzyme. Later is zinc-containing enzyme, in zinc deficiency the level of this enzyme is low.
Precautions during collection of blood for serum zinc estimation is that blood should be
collected in acid washed plastic tubes and syringes. This is due to avoid zinc contamination
from glass tubes and other blood collecting devices.
PATHOGENESIS
It is thought that zinc deficiency results in impairment of metalloenzyme activity which
produces the clinical picture.
TREATMENT
Oral zinc sulphate 5 mg/kg/day given in twice daily produces rapid clinical improvement.
Apathy disappears within 24 hours and skin lesions and diarrhea resolves within 7 to 14
days.
CLINICAL FEATURE
This itch mite burrows into the epidermis and irritates the skin causing scratching, which
leads to excoriation, which further serves as portal or entry for pathogenic organism. It
presents as intense pruritic papules over abdomen, dorsa of hand, flexurals surface of the
wrist, elbow, periaxillary skin, genitalia and interdigital webs of the hand.
In infants its presentation differs. It presents as eczematous eruption of face and trunk as an
acute dermatitis that is characterized by excoriation, erythematous papule, honey colored
crusts and pustules.
In older children and adolescent head and neck are almost never involved.
Dermatology 29
A B C
D E F
Figs 2.17A to F: Scabies (A) An infant with involvement of hands palm, soles and face (B) Involvement of
dorsa of hand and interdigital areas (C) Eczematous eruptions in an infant (D) Involvement of male genitalia
(E) Involvement of natal folds and buttocks (F) Involvement of dorsum of hands and finger webs in older age
group
TREATMENT
Maintenance of hygiene and local application of scabicidal drugs is the main stay of treatment.
Permethrine 5 percent application neck downward for 8 to 14 hrs produces 98 percent
cure.4 Permethrin acts on the nerve cell membrane of the mite to disrupt the sodium channel
current that regulates the polarization and subsequent paralysis and death of mite.
Method of application: Permethrin 5 percent cream is applied on cleansed and dry skin. In
adults and children over 2 years, the cream should be applied to the whole body from neck
down, rubbing lightly into the skin until the cream disappears. It is important to include all
skin surface, such as between the fingers and toes, under the nails and on the sole of the
feet. For babies under 2 years, apply to the face, neck, ears and scalp as well avoiding eyes.
30 Spotters in Pediatrics
It should be washed after 8 to 14 hrs after application to minimise the risk of allergic contact
dermatitis.
Gama benzene hydrochloride (Lindane) 1 percent applied once is curative 82 percent cases.5
Lindane when absorb systemically it can also result into CNS side effect.
Ivermectin- is a systemic drug that has been approved for the treatment of onchocerciasis
also use as scabicidal. Single dose of ivermectin 200 microgm/kg have a cure rate of 70
percent which increases to 95 percent with 2 doses at 2 week interval.
For infant less than six months age sulphur 6 to 10 percent ointment twice day for three
days can be used as alternative. In small children covering the arm and fingers after application
of drug is recommended to avoid ingestion by licking.
Control of itching: In scabies itching is due to immunological reaction by mite protein and it
presents for 3 to 4 weeks after the treatment. It requires antihistamine (e.g. Pheniramine
maleate) or local application of calamine lotion.
Luke warm water bath with tetmosal soap may be beneficial.
Cloths should be sun dried and to be changed daily. Mite die within 48 hrs when not on the
human body. Therefore, infection by cloths is minimum.
Treatment of secondary bacterial infection is by oral erythromycin.
Treat all possible contacts.
Treatment
Permethrin shampoo, single application for 10 minutes and then towel drying of the scalp.
Can be repeated after a week.
Treat all contact at the same time. Fine tooth hair comb is advised to remove the nits.
Instruct the family to wash the clothing and bedding in very hot water for 10 minutes.
Apply petrolatum bid for 8 days and remove the nits manually in cases of eyelashes nits
(crab louse).
Fig. 2.18: Head lice (Pediculosis capitis)
Dermatology 31
PSORIASIS (Figs 2.19 A and B)
SYNONYMS
Lepra alphos, psoriasis vulgaris.
INCIDENCE
Psoriasis is a common skin disease of childhood. In over third of psoriatic patients, disease
begins in childhood or adolescence. In many countries incidence varies from 1 to 3 percent of
population.
PATHOGENESIS
It is not clear, but a rapid epidermal cell turnover is claimed to be the cause. Normally it takes 28
days for epidermal cell to travel from basal layer to surface of the skin but in psoriasis it takes
only 3 to 4 days to reach the surface.
SIGNS
The eruption is characterized by erythematous macule or papules covered by dry, silvery
scales, which when scrapped off, reveal a pinpoint bleeding (Auspitz sign).
Small lesion tends to coalesce forming plaques of varied shapes. The distribution is usually
symmetrical. Nail involvement is common. As a rule psoriatic patched in children is milder
in as compared to adults.
CLINICAL VARIANTS
Napkin psoriasis—occurs in folds of the diaper area of infants.
Guttate psoriasis—this is an eruption of small (less than 1 cm), round or oval lesion, mainly
on the trunk, which appears with sudden onset, and follows upper respiratory infection.
A B
Figs 2.19A and B: Psoriasis (A) Scalp involvement results in accumulation of thick scales throughout the
scalp (B) Guttate psoriasis in an old child. Drop like white silvery plaques seen over extremities and trunk
32 Spotters in Pediatrics
Follicular psoriasis—there is tiny horny pointed lesion around hair follicles, usually on the
extensor aspect of the extremities.
Psoriasis of scalp—scaliness is more evident due to scanty hairs. And scalp is the first site
affected.
SYMPTOMS
The condition is usually asymptomatic, but there may be mild pruritis. Psychological problem
may develop in sensitive children.
COURSE
Chronic, with period of remissions and exacerbation, later may be aggravated by emotional
stress.
TREATMENT
Parents of the child should be informed as to the nature and chronicity of the disease. Since
lesions are tiny and soft, topical medium to high potency corticosteroids are usually effective.
Resistant cases may need coal tar and salicylic acid preparation at low concentration (1% to
3%).
Antibiotics if streptococcal infection is suspected.
A B C
Figs 2.20A to C: Collodion babies in a family. Autosomal recessive inheritance. (A) First child at birth. (B) Second
child at birth. (C) Both child, elder is 4 years old with extensive lamellar ichthyosis. Second one in nenatal period
TREATMENT
Treatment initially consists of high fluid intake to avoid dehydration and transepidermal fluid
loss and use of heated humidified incubator, emulsifying ointment and retinoids.
TREATMENT
Strict hygiene, high fluid intake preventing dehydration by use of humidified incubators and
application of emulsifying ointments. Oral retinoids such as etretinate may be useful.
Prenatal diagnosis- by fetoscopy, fetal skin biopsy and amniocentesis for cells between 17th
and 21st weeks of gestation.
34 Spotters in Pediatrics
A B C
Figs 2.21A to C: Harlequin fetus: (A) Disfigured baby, tight constricting integument, digital loss.
(B) Severe ectropion and O-shaped mouth. (C) Horny cracks of the skin
TREATMENT
Use of emollient (Urea cream, ammonium lactate cream).
A B
C D
Figs 2.22A to D: Ichthyosis vulgaris
Dermatology 35
Keratolytic cream.
Oral retenoids.
Genetic counseling.
Fig. 2.23: Cutis laxa. Child with loose
skin folds, joint and ligamentary laxity
36 Spotters in Pediatrics
DEFINITION
Definition: It is a chronic disorder of idiopathic origin characterized by fibrosis affecting
dermis and arteries of lung, kidney and GIT. The ANA is positive against topoisomerase 1
(SCL70) and centromere suggesting autoimmune etiology.
Mainly of two-types—systemic sclerosis (diffuse involvement), localized scleroderma
(morphea).
SYSTEMIC SCLEROSIS
It starts with edematous phase before fibrosis sets in. Loss of subcutaneous tissue in the
face results in small stoma, skin ulceration over pressure points, loss of tissue at fingertip
giving rise to ulceration especially when raynauds phenomenon is severe.
Distal phalanges exhibit acro-osteolysis, sclerodactyly.
Other chronic changes include epidermal thinning, hair loss and decreased sweating.
Systemic involvement: Respiratory- includes arterial and interstitial involvement, which may
lead to right sided heart failure. Renal involvement leads to renal arterial disease leading to
hypertension, Heart- cardiac fibrosis, arrhythmias, and ventricular hypertrophy.
CREST syndrome- refers to Calcinosis, Raynaud’s phenomenon, Oesophageal involvement,
Sclerosis of the skin and telangiectasis.
DIGNOSTIC CRITERIA
Major criterion: Proximal scleroderma- typical sclerodermatous skin changes (tightness,
thickening and nonpitting induration excluding localized forms of scleroderma) area involving
proximal to metacarpophalangeal or metatarsophalangeal joints.
A B
Figs 2.24A and B: Systemic sclerosis (A) Hardening of skin with pigmentation, loss of nasolabial
folds and expression less face. (B) Comparison of skin laxity with her mothers. Hardened skin is
difficult to lift
Dermatology 37
Minor criteria: Sclerodactyly, scleromatous skin changes limited to digits. Digital pitting
scars resulting from digital ischemia. Bibasillary pulmonary fibrosis non attributable to
pulmonary lung disease.
(The diagnosis of scleroderma requires the presence of the major criterion or two of the
three minor criterions. Arthritis rheum 1980;23:581).
TREATMENT
No specific treatment. Immunosuppressive agents like corticosteroid and methotrexate in
early stage of disease may be helpful. Physiotherapy and occupational therapy improves
flexion contraction in selected cases.
DEFINITION
It is fungal infection of skin caused by dermatophytes, namely M.canis, T.mentagrophytes,
T.tonsurans and T.rubran.
It consists of one or several erythematous patches. These patches may have a popular,
scaly, annular border and a clear center.
PATHOGENESIS
The dermatophytes invades the superficial layer of epidermis, the stratum corneum. The
exact mechanism of the inflammation is not known, but toxin released by dermatophytes
are responsible for initiating inflammatory response.
DIAGNOSIS
DIAGNOSIS is confirmed by KOH examination of scraping of thin scales obtained from
border of the lesion.
Fig. 2.25: Tinea corporis. Presence of circinate patch with prominent papulo-vesicular margins
38 Spotters in Pediatrics
TREATMENT
Tinea corporis is treated by application of topical antifungal cream. Topical terbinafine
produces clinical and mycological clearing within one week. Other topical antifungal used
are ciclopirox, clotrimazole, ketokonazole, econazole, miconazole, etc. The cream has to be
applied twice day for atleast 4 to 6 weeks.
• Physical factors like cold, heat, vibration, sunlight and water may provoke rashes.
Dermatographism is the most common physical urticaria, refers to wheel, which appears
after stroking of skin.
Treatment
• Elimination of the cause and prevention of exposure again.
• H-1 receptor antagonist like hydroxyzine and diphenhydramine are very effective but are
sedating.
• Newer generation H-1 blockers like loratidine, fexofenadine and cetrizine are effective.
• Addition of H-2 antagonist like cimitedine, ranitidine and femotidine to H-1 receptor
antagonist may be useful.
• Corticosteroid and subcutaneous epinephrine are reserved for severe attacks with laryngeal
edema.
Fig. 2.28: Dermatofibroma
B C
Figs 2.29A to C: Giant nevus (A) (B) (Neurocutaneous melanosis). Note the large bathing trunk
nevi and small lesion elsewhere especially head and scalp. Photographs by Dr Pallabh Chhaterjee,
Kolkata (C) Note the Giant hairy nevus over back and chest
Small congenital nevus seen over lower trunk, upper back shoulders, chest and proximal
limb. The lesions are flat, elevated, verrucous and may be of various shades brown, black
or blue. The malignancy potential of small nevi is approximately 15 percent.
Giant congenital pigmented nevus seen in (<1/20,000) deliveries. Seen most commonly
over posterior trunk but may also appear overhead and extremities.
These nevi are of special significance because of their association with leptomeningeal
melanocytosis and their predisposition for the development of malignant melanoma. The
leptomeningeal melanosis usually occurs when the nevus is located overhead or midline on
the trunk, especially when associated with satellite melanocytic nevi.
The neurological abnormalities include hydrocephalus, epilepsy, intracranial hemorrhage,
cranial nerve palsy and psychiatric disturbance.
Giant pigmented hairy nevus syndrome: These are situated over trunk. Lesions are raised,
darkly pigmented and hairy. Some cases have concomitant leptomeningeal melanosis. In 2
to 13 percent cases the skin nevi becomes malignant, 50 percent before the age of five
years.
42 Spotters in Pediatrics
Management is controversial. An MRI scan is done if nevi are situated overhead and spine
to detect the existence of neural melanosis in such cases gross excision is a futile exercise.
In the absence of neural melanosis early excision and repair can be done.
A B
Fig. 2.30: Juvenile xanthogranuloma (A) Xanthogranuloma over face associated with a cafe au lait
patches. (B) Xanthogranuloma in a neonate. Note the dome shaped nodular lesion over body in a other
wise normal neonate. Photographs by Dr Pallabh Chhaterjee, Kolkata
Fig. 2.31: Hypohidrotic ectodermal dysplasia is
characterized by pointed ears, wispy hairs, periorbital
hyperpigmentation, pegged teeth. Photograph courtesy
by Dr Abhijeet Saha, Dr Prerna Batra, MGIMS,
Sevagram, Wardha.
set ears. The hair is sparse, unruly, and lightly pigmented and eyebrows and lashes are
sparse and absent. Anodontia or hypodontia with widely spaced, conical teeth is a consistent
feature.
Skin biopsy is diagnostic.
Treatment is symptomatic.
A B
Figs 2.32A and B: Hypomelanosis of Ito: (A) A five-year-old patient with linear depigmented areas and
hyperpigmentation along side, distributed along Blaschko’s lines (B) Note streaky distribution of hypopigmentation
44 Spotters in Pediatrics
REFERENCES
1. Mulliken JB, Glowacki F: Hemangioma and vascular malformation in infants and children; a classification
based on endothelial characteristics, Plast Reconstr Surg 1982;69:412.
2. Mulliken JB, Young A: Vascular birth mark: hemangioma and malformation, Philadelphia 1988 WB Saunders,
77.
3. Lynn A, Brozenza SJ et al: Nevus of ota acquisita of late onset. Cutis 1993;51:194.
4. Purvis RS, Tyring SK: An outbreak of Lindane resistance scabies treated successfully with 5 percent
permethrin cream. J.Am.Acad.Dermatol, 1991;25:1015.
5. Orkin M, Maiback HI, Scabies therapy- 1993 Semin Dermatol, 1993;12:22.
6. Dermatofibroma: Nelson textbook of Pediatrics, 17th edition, 2004; Chapter 660:2247.
Chapter
3 Neonatology
A B C
Figs 3.2A to C: Mongolian spot. (A and B) One-month-old baby with an extensive bluish macule covering
almost whole of the back and lower limb, anterior chest and abdomen (C) Bluish macule over left lower
quadrant of abdomen in a two-year-old child. One has to differentiate it from bruises when intentional injury
is suspected
Fig. 3.3: Salmon patch on both upper eyelids.
Photograph courtesy: Dr Ramesh Bhatt, KMC
Manipal.
Neonatology 47
MILIA (Figs 3.4A to C)
Milia are small superficial inclusion cysts, which are caused by blockade of pilosebaceous
gland of newborn. They are tiny 1 to 2 mm white papules more prominent over cheek, nose
nasolabial fold and chin. It is seen in 25 to 40 percent of newborn. It is self-limiting disease and
lesion resolves by around first month. Persistent milia points, to rule out the presence of oral-
facial-digital syndrome type I. These cyst are also present over palate in midline and is called as
EBSTEIN PEARL. About 40 percent infant has milia over face and 60 percent over palate. This
retention cyst also present prepuce called as PREPUCIAL EBSTEIN PEARL.
B C
Figs 3.4A to C: Milia. Sebaceous gland hyperplasia over nose (B) Ebstein pearl
on the hard palate (C) Ebstein prepucial pearl at 5 o’ clock position.
Photograph courtsey: Dr Ramesh Bhatt, KMC Manipal
Fig. 3.5: Junctional nevus. Photograph courtsey:
Dr Ramesh Bhatt, KMC Manipal
Fig. 3.6: Cutis marmorata. Note the reticular
and mottled skin in a premature newborn
baby
CLINICAL FEATURES
1. Seen more in primparous mother and during vaginal delivery but is also noticed in cesarean
section delivery.
2. Swelling gradually enhances in size, which may take several hours to few days. It is largest
on 2 to 3rd day. It is usually unilateral but can be bilateral in 15 percent cases. Swelling is
Neonatology 49
A B D
C E
Figs 3.7A to E: Cephalohematoma (A) Note the left parietal cephalohematoma (B) Note the huge clearly
demarcated and not crossing the midline is left parietal hematoma in clean shaved skull. (C to E) A 9 months
old child presented with persistence of the cephalohematoma, examination revealed bony consistency due to
secondary calcification X-ray skull and CT scan skull confirms calcified cephalohematoma
confined to the surface of one of the cranial bone and it doesn’t cross the midline. The
swelling is firm and sharply demarcated boundaries.
3. X-ray skull reveals a linear fracture in 5 percent in unilateral cephalohematoma and 18
percent in bilateral cephalohematoma. Calcification is seen in at the end of 2 weeks.
Complication: Anemia and hyperbilirubinemia is seen depending on amount of blood collected
in hematoma. Infection of collected blood may take place in infected newborn.
Differential diagnosis mainly with caput succedaneum but also from encephalocele and cranial
meningocele.
Treatment: doesn’t require treatment rarely blood transfusion is required if hematoma is large.
Follow up: Cephalohematoma usually disappears in 2 to 12 weeks depending on size. A skull
X-Ray at 4 to 6 weeks is some time required to exclude the formation of leptomeningeal cyst.
Sometime neonatal cephalohematoma persists in adult life as bony protuberance with no
symptoms and is known a cephalohematoma deformance of Schuller.
DEFINITION
It is infection of breast tissue affecting full term infants 1 to 5 weeks postnatally.
Mostly seen in full term infant it doesn’t occur in premature infants.
Infection occurs through the retrograde entry of bacteria present on the skin through the
ducts into the breast tissue leading to cellulites and abscess formation (Fig. 3.8B).
Most common pathogen is Staphalococcus aureus in more than 90 percent cases followed
by other pathogens like E.coli, Proteus, Group D Streptococcus, Pseudomonas, Group B
Streptococcus and anaerobic bacteria’s.
Cellulitis and local spread are the most common complications.
A B
Figs 3.8A and B: Mastitis neonatorum. (A) Physiological enlargement of breasts typically seen as symmetrical
enlargement of breasts. It is more common in post mature infants. (B) Cellulites of left breast. It is unilateral with
signs of inflammation, needs antibiotics for treatment
TREATMENT
Proper antibiotic coverage is required for 7 to 10 days.
It has to be differentiated from physiological enlargement of breast, which occurs in full
term babies on 3rd and 4th day and persists for few days. It is thought to be due to lack of
inactivation of maternal hormones (Progesteron and estrogen) by neonatal liver. No treatment
is required, just psychological reassurance to mother is needed.
Neonatology 51
SUPERNUMERARY NIPPLES (Fig. 3.9)
These are oval pigmented spot half the size of normal nipple situated any where over the milk
line. They are common in dark pigmented races.
Fig. 3.9: Bilateral supernumerary nipple, left one is situated
inferiorly as compared to right side on the milk line
A B
Figs 3.11A and B: (A) Neonatal vaginal tag (B) Neonatal vaginal bleeding.
Note the stains of blood around labia
Fig. 3.13: Milia crystallina. Note the tiny pinpoint white vesicles around nose and cheeks
Fig. 3.15: Neonate with typical facial
distribution of acne neonatorum
Fig. 3.16: Bullous impetigo. Lesions are common
in moist region like groin, axillary folds, neck
and presents as superficial bullae, which are
wrinkled, and rupture easily producing ulcers
and crusts
A B
Figs 3.17A and B: (A) Infant of diabetic mother. See the plumy plethoric infant with cushingoid facies
(B) Note the hairy pinna. Photograph courtesy: Dr Ramesh Bhatt, KMC Manipal
Infants of diabetic mother tends to be large and plump as a result of increased body fat and
enlarge viscera, with puffy cushingoid facies with hairy pinna.
There may be normal, LBW or preterm delivery.
The complications includes:
• Metabolic—Hypoglycemia, hypocalcemia, hypomagnesemia.
• Hematologic—Polycythemia, hyperbilirubinemia.
• Vascular—especially renal vein and cerebral thrombosis.
• Respiratory—Hyaline membrane disease, TTN.
• Sepsis—due to decrease complement, chemotactic factors, opsonin activity and cellular
immunity.
• Anomalies—CNS- spinal anomalies from hemivertebrae to caudal regression syndrome,
anencephaly.
CVS- TGV, VSD, PDA and hypertrophic cardiomyopathy.
GIT- spastic left microcolon due to slight delay in the development of left side microcolon.
Management
• Admission in NICU, full physical examination for anomalies, test immediately for blood
glucose.
• Blood for Hb, Hct, TLC glucose, calcium, Mg and PO4.
• Septic workup accordingly.
• CXR in case of RDS to rule out cardiac anomalies.
• Monitoring of blood glucose by dextrostrips 4 hourly × 3 days, 6 hourly × 2 days, then
8 hourly × 3 days.
• Manage other metabolic problems accordingly.
56 Spotters in Pediatrics
B C
Figs 3.18A to C: Beckwith-Wiedeman syndrome (A) (B) Large for date baby presented with hypoglycemic
convulsion, omphalocele, macroglossia, polydactyly (C) Note horizontal ear lobe crease
Neonatology 57
ASYMMETRIC CRYING FACIES (Figs 3.19A to C)
Congenital hypoplasia or aplasia of the depressor anguli oris muscle is a minor congenital
anomaly that causes asymmetric facies. The prospective survey of consecutive birth yields
an incidence of 0.5 to 1 percent.
There is no pathogeneses mechanism suggested, it probably represents hypoplasia or aplasia
of depressor anguli oris muscle.
An autosomal dominant inheritance with variable expression is seen in some family some
time complex multifactorial inheritance is noted.
The typical clinical findings are failure of one corner of mouth to move downward and
outward with crying or grimacing. All other facial movements are symmetric. Some time
absence of muscle is palpable as a thinner lower lip on the paralyzed side. Feeding difficulties
are not seen in these cases. Forehead wrinkling, eye closure and nasolabial folds are normal
on both the sides of face. The other anomalies associated are cardiovascular anomalies are
most common also called as cardiofacial syndrome (VSD, TOF, PDA, Coarctation of aorta
etc.), genitourinary, musculoskeletal (Barrel thorax, high placed scapula), cervicofacial
(micrognathia, cleft palate, short neck), respiratory (congenital lobar emphysema).
The diagnosis rests on clinical observation, cardiac assessment, and EMG studies. The
EMG study helps differentiating from traumatic facial nerve palsy. In hypoplasia of the
muscle the conduction velocity and latency of facial nerve is normal, fibrillations are not
seen at depressor anguli oris muscle, motor unit potential are absent or decreased in number
at the site of the depressor anguli oris muscle.
Treatment: No treatment is required for this entity, but proper screening is required for
cardiovascular defects.
Prognosis: The absence of depressor anguli oris muscle in older children and adults is not
noticed because it is not a significant component of facial expression. As the child grows
and increasingly uses the simulating muscle (risorius and zygomaticus), the facial asymmetry
becomes less prominent. The most important clinical clue in such situation is rule out facial
palsy and search for other congenital anomalies.
A B C
Figs 3.19A to C: Absence of depressor angularis oris muscle. (A) Neonate during sleep. This abnormality is only
detected when the child cries or laugh, hence always have a look during cry. (B) Absence of right depressor
angularis oris muscle in the same child during cry. (C) Facial palsy (Left). Absence of DAOM has to be
differentiated from facial palsy. In facial palsy affected side eyes remains open, absence of nasolabial folds and
mouth droops and drawn towards healthier side
58 Spotters in Pediatrics
SYNONYM
Dzerrant tissue bands, Adam complex, Amniotic band disruption complex.
ETIOLOGY
Sporadic condition.
ETIOPATHOGENESIS
Various theories are proposed.
1. Amniotic membrane rupture is most accepted theory. The early rupture amnion results
in mesodermic band that emanates from the chorionic side of the amnion and insert on
the fetal body leading to amputation, constriction and postural deformities secondary to
immobilization.5 The earlier the insult the more severe is the lesion. Amniotic rupture in
first week of pregnancy results in cardiofacial and visceral defect, whereas during the
second trimester it may lead to limb and digital constriction and amputation.6
2. An alternate view is that amniotic band syndrome is the consequence of an insult that
results in typical malformation as well as ectodermal and mesenchymal disruption.
3. Vascular compromises may have role in formation of these defects.
CLINICAL FEATURE
Depends on area of the body involved
Limb defect- multiple, asymmetric
Constricting ring of the limb, digits
Amputation of the limb and digits
Pseudosyndactyly
Abnormal dermal ridge patterns
Simian crease.
A B
Figs 3.20A and B: Amniotic band syndrome. (A) Amputation of both feet. (B) Amputation of half upper limb
Neonatology 59
CRANIOFACIAL DEFECT
Encephalocele, multiple asymmetric
Anencephaly
Facial clefting- lip, palate
Severe nasal defects
Asymmetric microphthalmia.
VISCERAL DEFECT
Gastroschisis
Omphalocele.
DIAGNOSIS
At the time of delivery the examination of placenta and membrane helps, there is multiple
fibrous strands of amnion extend from the placental insertion of umbilical cord to the surface
of the denuded chorion or float freely within the chorionic sac.
MANAGEMENT
1. Obstetric management: Fetal karyotype is indicated because congenital anomalies may be
due to chromosomal abnormalities. The option to terminate pregnancy should be taken on
the basis of type of anomalies and result of karyotyping.
2. Management later in life needs plastic surgery consultation.
3. Counseling and explaining the chances of repetition of anomalies is negligible in subsequent
pregnancy.
60 Spotters in Pediatrics
Fig. 3.22: Congenital syphilis Desquamation and exfoliation of palms and soles
with no rash elsewhere is highly suggestive of congenital syphilis
PRENATAL DIAGNOSIS
Normal cord contains two arteries and one vein readily visible in transverse or longitudinal
sections. In longitudinal sections, the helicoidal shape provides a typical braided appearance to
the umbilical cord. An SUA can be seen readily in transverse sections by identifying a cord with
only two vessels. In longitudinal section, a loss of braided pattern of the umbilical cord is
visualized.
ASSOCIATED ANOMALIES
CVS- VSD and conotruncal anomalies.
Cleft lip, ventral wall defect, and esophageal atresia.
CNS- spina bifida, hydrocephaly, holoprosencephaly.
Diaphragmatic hernia, cystic hygroma.
Genitourinary- Hydronephrosis, dysplastic kidneys
Digital anomalies- polydactyly and syndactyly.
OBSTETRICAL MANAGEMENT
Identification of SUA should prompt a search for associated anomalies.
Fetal echocardiography.
Karyotype determination.
Serial USG for identification of IUGR.
Pediatrician should be alerted to the diagnosis of SUA.
62 Spotters in Pediatrics
A B
Figs 3.25A and B: Birth trauma. (A) Lacerated wound accidentally induced by scalpel blade while extracting the
baby vaginally in face presentation. (B) Stillborn baby presented as shoulder dystosia. Note extensive injury and
hematoma over right shoulder and right upper arm
Neonatology 63
A B
Figs 3.26A and B: Birth trauma. (A) Right clavicle fracture. (B) Fracture middle shaft of humerus
Clinical feature: The standard sign of inflammation including tumor, rubor, dolor, and calor
can be present over the site of fracture. It is normally easy to palpate the clavicular margins
in the newborn, “tumor” can make this palpation difficult. Pseudoparalysis may also be
present as the infant attempts to minimize movement on the affected side to minimize pain.
Infant may also turn their head towards the affected side, there by relaxing the ipsilateral
sternocleidomastoid muscle and reducing its pull on the fractured clavicle. The moros reflex
may also be asymmetrical in acute stage. The fracture is usually greenstick and is in the
middle third.
Treatment: The isolated clavicle fracture requires minimal intervention and does not generally
require orthopedic consultation. Regardless of the degree of immobilization, the fracture
typically stabilizes 7 to 10 days following injury. Using a safety pin to fasten the ipsilateral
sleeve to the torso of the baby’s garment provides adequate immobilization for comfort and
healing to take place. Figure of eight bandage can be applied when the displacement is big.
Fracture of shaft of long bones- fracture of humerus is usually transverse or spiral, most
often involves middle third of the shaft. Treatment consists in restriction of movements by
traction, splinting or suitable bandage for a period of 3 weeks.
B C
Figs 3.28A to C: (A) Hemorrhagic disease of newborn. Profuse bleeding from cord, with prolong PT and PTT
and normal platelet count. This patient responded with injection vitamin K and FFP. (B) Bleeding from oral cavity
appeared on day 2, responded well by injection Vitamin K, his mother was on phenytoin during her pregnancy
period. (C) Malena in newborn period. This was swallowed maternal blood which was confirmed by Apt test
Neonatology 65
Delayed hemorrhagic disease of newborn can occur at 4 to 12 weeks of age. The usual
precipitating factors are malabsorption in cystic fibrosis and prolong use of broad-spectrum
antibiotics.
An epidemiological study has shown a statistical association between neonatal vitamin K
injection and subsequent risk of malignancy. Although other studies have failed to confirm
this, a small but increased risk of leukemia cannot be excluded. However, the risk of HDN
is certain; that of cancer is not.
Apt test: Apt test is used to rule out maternal blood. If the child is well and only gastrointestinal
bleeding is noted, an Apt test is performed on the gastric aspirate or stool to rule out the
presence of swallowed maternal blood. Procedure consists of mixing 1 part of stool or
vomitus with 5 parts water, centrifuge it and separate the clear pink supernant fluid
(hemolysate); add 1ml of sodium hydroxide 1 percent to 4 ml hemolysate. Since the fetal
hemoglobin is resistant to alkali the color of the fluid will remain pink and adult hemoglobin
is broken down by alkali and gives yellow brown color to the fluid.
A B
Figs 3.29A and B: Twin to twin transfusion. (A) shows the pale donor twin (on the left) and the plethoric
recipient (on the right). (B) shows similarity of twins after partial exchange for the symptomatic, polycythemic,
recipient twin. Photograph courtesy: Dr Ramesh Bhatt, KMC Manipal
66 Spotters in Pediatrics
Neonates are considered having TTTS if any two of the following criteria are satisfied:
1) inter-twin hemoglobin difference > 5 g/100 ml (PCV>15%), (2) pallor in one twin and
plethora in the other, (3) inter-twin birth weight difference > 15 percent. Medical care of
twins after birth is directed towards problem related to anemia, polycythemia and hydrops.
A B
Figs 3.30A and B: (A) Non immune hydrops. (B) Abortus dipicting the picture of hydrops.
Photograph courtesy: Dr Sarita Agrawal, Bilaspur
Neonatology 67
• ultrasound—a diagnostic imaging technique which uses high-frequency sound waves
and a computer to create images of blood vessels, tissues, and organs. Ultrasounds are
used to view internal organs as they function, and to assess blood flow through various
vessels.
• fetal blood sampling—done by placing a needle through the mother’s uterus and into a
blood vessel of the fetus or the umbilical cord.
• amniocentesis—withdrawing some of the amniotic fluid for testing.
Treatment of hydrops depends on the cause. During pregnancy, hydrops may be treatable
only in certain situations. Management of hydrops in newborn babies may include:
• help for respiratory distress using supplemental oxygen or a mechanical breathing machine
• removal of excessive fluid from spaces around the lungs and abdomen using a needle
medications to help the kidneys remove excess fluid.
A B
Figs 3.31A and B: Epignathus. (A) Extremely premature baby with epignathus.
(B) Full term baby with the mass from the hard palate
68 Spotters in Pediatrics
Diagnosis: Antenatal sonography—a solid tumor emanating from the fetal oral cavity is
suggestive of this condition. Calcification and cystic component can be visualized.
Prognosis: It depends on size of the tumor and involvement of vital structures. Polyhydramnios
is associated with poor prognosis. Major cause of death is asphyxia because of airway
obstruction.
A B
C D E
Figs 3.34A to E: Malformation of ear. (A) Abnormal pinna. (B) Unusually prominent ear or lop ear. (C) Preauricular
skin tag with abnormal pinna. (D) Preauricular skin tag, malformed pinna and absent auditory canal.
(E) Preauricular skin tag with large tragus. Photograph courtesy: Dr Ramesh Bhatt, KMC Manipal
70 Spotters in Pediatrics
REFERENCES
1. Carr.JA, Hodgman JE. Relationship between toxic erythema and infant maturity, Am.J.Dis.Child
1966;112:129.
2. Cordova A. The Mongolian spot: A study of ethnic differences and a literature review. Clin. Pediatr:
1981;20:714.
3. Aler JC, Holmes LB. The incidence and significance of birthmarks in a cohort of 4,641 newborn. Pediatr
Dermatol 1983;1:58.
4. Farquhar JW. The child of the diabetic women. Arch Dis Child 1959;34:76.
5. Torpin R. Amniochorionic mesoblastic fibrous strings and amniotic band: Associated constricting fetal
malformation or fetal death. Am J Obstet Gynecol 1965;91:65.
6. Higginbottom MC, John KL et al. The amniotic band disruption complex: Timing of amniotic rupture and
variable spectra of consequent defects. J Pediatr 1979;95:544.
7. Koltmier PK. Birth Trauma, Pediatric Surgery 4th edn., Chicago, Year Book Medical Publisher 1986;230-
37.
Chapter
4 Endocrinology
Fig 4.1: Gynecomastia in 12-year-old boy. If the breast tissue is pinched between
thumb and forefinger and moved upwards towards nipple a feeling of firm, rubbery
feeling of glandular tissue underneath nipple and areola is seen in gynecomastia
72 Spotters in Pediatrics
TREATMENT
Pubertal gynecomastia less than 4 cm in diameter requires no therapy except reassurance. It
resolves spontaneously without treatment and in 75 percent cases within 2 years and in
about 95 percent cases within 3 years.
If enlargement is striking macrogynecomastia producing psychological and emotional
problems medical and surgical treatment can be considered.
Drugs are rarely used due to poor success rate. Drugs with antiestrogenic effect like tamoxifen,
arometase inhibitor like testolactone are often used.
Surgery—Transareolar reduction mamoplasty and liposuction.
Indications are:
• For persistent macrogynecomastia of four years or longer duration. After four years
breast tissue shows fibrosis and hyalinization, which is frequently irreversible.
• For cosmetic reasons.
DEFINITION
Precocious puberty is generally defined as the onset of secondary sexual characteristic before
age of 8 years in female and 9 years in male. Idiopathic sexual precocity is 10 times more
common in girls than in boys. However, structural CNS abnormality can be demonstrated in
25 to 75 percent of boys and in some girls with central precocious puberty.
CLINICAL PICTURE
Sexual development can occur at any age and breast enlargement is the first sign and pubic
hairs appear late may be followed by maturation of external genitalia, axillary hairs. Menstruation
Endocrinology 73
Fig. 4.2: Idiopathic precocious puberty. Patient aged
6 years with breast enlargement. Osseous
maturation advanced. Estrogen assay was normal.
Intelligence was normal for age
is seen quite early in these patients. The cycles are anovulatary and irregular initially but pregnancy
is seen in some cases as early as 5.5 years. There is advanced bone maturation as a result there
is premature fusion of epiphysis resulting into short stature. Mental development is normal for
age.
INVESTIGATIONS
Serum estradiol concentration is lower or even absent initially as in normal puberty. Immunometric
assay of LH offers greater diagnostic sensitivity using random blood sample. It is positive in
50 to 70 percent of girls with precocious puberty. Osseous maturation is advanced more than
2 to 3 SD. Pelvic USG reveals enlargement of ovaries and uterus. CT and MRI reveals
physiological enlargement of pituitary gland as seen in normal puberty.
TREATMENT
Long acting GnRH analogs like leuprolide 0.3 mg/kg IM every month. Suppression of pituitary
gonadotrophin occurs after 1-2 months. This drug can be withdrawn at normal expected age of
puberty.
CAUSES
Excess of glucocorticoids in children is uncommon; and most of
CS is iatrogenic. In infants adrenocortical tumor is responsible for
Fig. 4.3: Cushing syndrome. General obesity, round,
plethoric “moon” face, and increased skin folds.
74 Spotters in Pediatrics
CS and in children above 7 years important cause is Cushing’s disease, i.e. excess of ACTH
secreted by pituitary adenoma which causes bilateral adrenal hyperplasia.
CLINICAL PICTURE
In young children moon facies, double chin, buffalo hump, obesity, musculinization,
hypertrichosis on face and trunk, pubic hair, acne, clitorial enlargement, impaired growth. In
older children, growth failure, obesity, purplish striae, delayed puberty, weakness, headache
and emotional liability occur.
LABORATORY FINDINGS
includes polycythemia, lymphopenia, eosinopenia, abnormal glucose tolerance, lack of diurnal
rhythm, elevated urinary and serum cortisol, osteoporosis, variable bone maturation, and
suppressed growth hormone. MRI brain reveals pituitary adenoma.
TREATMENT
Surgical removal of adenoma/ carcinoma. Total adrenalectomy can cause postoperative pituitary
tumor expansion and elevated ACTH and an enlarge sella turcica (Nelson syndrome). Additional
therapies consist of transphenoidal pituitary microsurgery; radiation and cyproheptadine may
block release of ACTH.
PROGNOSIS
Prognosis depends on etiology, method of treatment and severity of glucocorticoids excess.
Complications such as avascular necrosis of femoral head, hypertension, and posterior
capsular cataract can be seen.
In ACTH dependent CS (Cushing’s disease) surgery may often lead to Nelson syndrome.
Catch-up growth is restored after surgery, but poor prognosis is seen in-patient with adrenal
carcinoma.
Follow-up—In patient undergone bilateral adrenectomy steroid therapy has to be given life
long. Hydrocortisone 10-20 mg /m2/d three times day, fludrocortisone 0.05 mg-0.2 mg/d.
In patient recovering from iatrogenic CS early morning cortisol level is assessed to see the
adrenal function.
A B
Figs 4.4A and B: Congenital hypothyroidism. (A) 6 month old child, hypotonic with dry skin, low-pitched
hoarse cry, low body temperature, macroglossia and umbilical hernia. (B) X-ray wrist for bone age. No
carpel bone ossification center is visible
ETIOLOGY
The commonest etiology is thyroid ectopia and dysplasia resulting from maldescent in early
gestation. Majority cases have thyroid dysgenesis which is sporadic in inheritance, hence
no chance of repeating in next pregnancy. There is no goiter in such cases. Female
preponderance is quoted for thyroid dysgenesis. Some time there is inborn error in thyroid
hormone synthesis, this autosomal recessive condition have 5 percent chance of recurrence
in subsequent siblings.
Penred syndrome comprising of sensorineural deafness and goiter has positive perchlorate
discharge. It is due to defect in a sulphate transport protein common to the thyroid gland
and the cochlea. It contributes to T4 synthetic defects leading to hypothyroidism.
CLINICAL FEATURES
Usually not presents at birth and appears gradually over about 6 weeks. In 5 percent cases
exhibit clinical features in first week of life. Early manifestation includes lethargy, inactivity,
hypotonia, periorbital edema, large fontanels, feeding difficulty, cutis marmuratus, respiratory
distress, thermal instability, poor or hoarse cry, and constipation. After one week of life prolong
physiological jaundice is an indication of congenital hypothyroidism. Classical clinical picture
develops only after six weeks. This includes typical faces narrow forehead, puffy eyelids, thick
dry and cold skin, coarse hair, large tongue, umbilical hernia, bradycardia, anemia, and wide
cranial sutures. Enlarge posterior fontanel > 1 cm.
A B C
Figs 4.5A to C: (A) Hypothyroid boy with generalized pseudohypertrophy of muscles athletic appearance
(Kocher-Debre-Semelaigne syndrome). (B) Acquired hypothyroidism in 15-year-old girl later confirmed as
autoimmune thyroiditis. (C) Pubertal enlargement of thyroid gland
LABORATORY DIAGNOSIS
Estimation of T4 and TSH level decides the presence or absence congenital hypothyroidism. A
TSH level of above 20 IU and low T4 levels are indicative of congenital hypothyroidism. This
has to be repeated after one month. T4 comes to normal within one month but TSH takes 3
months or more to normalize. In later ages level has to be matched with the age related references.
X-ray of knee and ankle reveals delayed bony maturation. Ossification of calcaneum and
talus appears at 26–28 weeks, distal femur at 34–36 weeks, proximal tibia at 34–36 weeks.
Hence, absence of these centers indicates intrauterine thyroid hormone deficiency. Some time
epiphyseal center may be fragmented called as epiphyseal dysgenesis.
TREATMENT
All hypothyroid infants with or without goiter should be treated promptly by thyroxine.
• Dose schedule of thyroxine
• 0-6 month 10-15 microgm/kg/d
• 6-12 month 6-8 microgm/kg/d
• 1-5 year 5-6 microgram/kg/d
• 6-12 year 4 microgm/kg/d
T4 level should be maintained at 12-13 microgm/dl for first year and 10 microgm/dl thereafter.
TSH level should be <5 microgm/ml. Excessive thyroxine replacement can cause
craniosynostosis.
Endocrinology 77
FOLLOW-UP
• American Thyroid Association and American Academy of Pediatrics recommendations for
clinical management and follow-up.
• Immediate consultation of the neonate with pediatric endocrinologist.
• Complete history and physical examination.
• Serum (Free) T4 and TSH estimation and thyroid antibody test to be performed.
• Bone age to be determined to assess the effect of hypothyroidism in the fetal life.
• Accurate growth and growth velocity chart has to be maintained.
• Thyroid scan (I-123- Tc-99) to establish the diagnosis of hypothyroidism.
• L- thyroxine is the treatment of choice with goal of maintaining the serum T4 concentration
in the upper limit of the normal serum values. Following are the schedule for testing T4 and
TSH level during treatment. At 2 and 4 weeks after the initiation of therapy. Every 2 months
during the first six months of life. Every 4 months between 6 months and every 12 months
thereafter. Treatment in thyroid dysgenesis is life long with dose adjustment according to
child’s body weight.
PROGNOSIS
1. Thyroid hormone is vital for normal brain development, since almost no thyroxine (T4)
crosses the placental brain the fetus is dependent on its own pituitary-thyroid axis.
2. If treatment is delayed beyond 6 weeks of age permanent intellectual impairment may occur.
3. Neonatal screening for CH using filter paper blood-spot specimen analyzed for T4 or TSH
almost entirely prevents the complication.
Fig. 4.6: Micropenis. A neonate with stretched penile
length of less than 2.5 SD
78 Spotters in Pediatrics
from base up to tip of glans. The ratio of length and circumference of penis is also to be
measured. Normally, the newborn penis measures 3.5 +/- 0.7 cm and 1.1 +/- 0.2 cm in diameter.
Causes
It usually occurs due to hormonal imbalance occurs after 14 weeks of gestation.
• Hypogonadotropic hypogonadism.
• Hypergonadotropic hypogonadism. (Primary testicular failure).
• Idiopathic micropenis.
Physical findings provide information about the degree of virilization of the external genitalia
and the presence or absence of palpable gonads.
Clitoral enlargement, phallic length and mid-shaft diameter, assessment of degree of
labioscrotal folds, presence of gonads, and severity of hypospadias should be assessed in
these cases.
Radiological, lab investigations and karyotyping are needed for the diagnosis.
INHERITANCE
This condition is not inherited, but usually occurs as a random event during the formation of
reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in
reproductive cells with an abnormal number of chromosomes.
A B C
Figs 4.8A to C: Klinefelter’s syndrome (A and B) Thirteen years presented with dyslexia, tall stature (Lower
segment more than the trunk), pectus excavatum, hypogonadism. Karyotyping revealed 47XXY. (C) Note the
absence of secondary sexual characteristic, no pubic hair, testicular size less than 2 cm
SYMPTOMS
The symptoms of Klinefelter’s syndrome are variable and not every affected person will have
all of the features of the condition. Males with Klinefelter’s syndrome appear normal at birth
and have normal male genitalia. From childhood, males with Klinefelter’s syndrome are taller
than average with long limbs. They have abnormal body proportion, i.e. long limbs and short
trunk. Taurodantism is seen on dental X-ray, an enlarge pulp space beneath the clinical crown
and affects basically the molar tooth.
At birth the testicles of Klinefelter’s boys are of normal size. When the testicles grow
quickly in boys with normal chromosomes at the age of 11-12 years, the testicles of Klinefelter’s
80 Spotters in Pediatrics
boys stay very small, as a rule only 2 cm from pole to pole. Usually only few sperms are
developed in the testicles and men with Klinefelter’s syndrome are as a rule infertile.
Children with Klinefelter’s syndrome frequently have difficulty with language, including
learning to speak, read, and write. Approximately 50% of males with Klinefelter’s syndrome
are dyslexic.
Some patients with Klinefelter’s syndrome have difficulty with social skills and tend to be
more shy, anxious, or immature than their peers. They can also have poor judgment and do
not handle stressful situations well. As a result, they often do not feel comfortable in large
social gatherings.
The greater the number of X chromosomes present, the greater the disability; each extra X
chromosome lowers the child’s IQ by about 15 points. Boys with several extra X-
chromosomes have distinctive facial features, more severe retardation, deformities of bony
structures, and even more disordered development of male features.
DIAGNOSIS
Karyotyping to pickup 47XXY or its variant. Serum hormones in the form of Testosterone, LH,
FSH and Estradiol, later three are raised while testosterone level are reduced.
TREATMENT
Children with Klinefelter’s syndrome may benefit from speech therapy for speech problems or
other educational interventions for learning disabilities. Testosterone injections started around
the time of puberty may help to produce more normal development including more muscle
mass, hair growth and increased sex drive. Testosterone supplementation will not increase
testicular size, decrease breast growth or correct infertility. Psychiatric consultation may be
helpful when the boy reaches adolescence.
PROGNOSIS
While many men with Klinefelter’s syndrome go on to live normal lives, nearly 100% of these
men will be sterile (unable to produce a child).
COMPLICATIONS
Males with Klinefelter’s syndrome have an increased risk of several systemic conditions, including
epilepsy, osteoporosis, such autoimmune disorders as lupus and arthritis, diabetes, and breast
and germ cell tumors.
BIBLIOGRAPHY
1. Breast disorders in children and adolescents, Pediatr Clin North Am 1989;36:601-38.
2. Gynecomastia. Endoc Metab Clin N Am 1994;23:825-37.
3. Nelsons Text Book of Pediatrics, 17th edition, Chapter 536, 1815.
Chapter
5 Pediatric Surgery
DEFINITION
An abscess is a collection of pus. Bacteria reaches site of infection by three routes.1 Direct
infection,2 Local extension from adjacent focus.3 Hematogenous or lymphatic spread. Pus
composed of dead leukocyte and bacteria. Polymorphs contain a proteolytic enzyme, which
causes liquefaction of tissues.
SYMPTOMS
Malaise, fever and throbbing pain.
82 Spotters in Pediatrics
SIGN
Five classical local sign of inflammation are seen
1. Heat ‘CALOR’, infected area feels warm. 2. Redness ‘RUBOR’.
3. Pain ‘DOLOR’. 4. Swelling ‘TUMOUR’
5. Functiolasia.
Initially the swelling is brawny and edematous. Later softening and fluctuation occurs. If
left untreated, it starts to point.
TREATMENT
The treatment of an abscess is incision and drainage.
Incision and drainage is always performed under suitable anesthesia.
Incision is given along Langer’s line or skin crease, by a scalpel blade. The incision should
be parallel to, and not across the direction of the underlying structures in case of deep
seated abscess.
Standard procedure—The incision is deepened to reach the abscess cavity and then a closed
hemostat is plunged into the cavity. A finger or a sinus forceps is introduced and all the loculi
are broken down. The cavity is then loosely filled (and not packed) with a gauge, which is
removed on the second or the third day.
Suitable antibiotics are mandatory for adequate length of time.
EMBRYOLOGY
TGDC are caused by persistence of thyroglossal duct, during the descent of the thyroid from
the foramen cecum to its final position in the anterior neck. The cyst is connected to the
foramen cecum by single or multiple tracts, which pass through the hyoid bone. The duct lining
contains mucus-secreting glands and the cyst usually is filled with thick mucus. The thyroglossal
fistula results from the rupture of an infected TGDC.
SITE
The infrahyoid type is mostly found in the paramedian position, while the suprahyoid type is
positioned in the midline.
CLINICAL FEATURES
It is best visualized with the neck extended. It is soft, non-tender measuring 1 to 2 cm.
The cyst moves vertically up with tongue protrusion and swallowing.
Pediatric Surgery 83
Fig. 5.2: Thyroglossal duct cyst. Cyst moves upwards on tongue protrusion
If the mass appears solid on clinical examination or ultrasonography, iodine uptake studies
should be carried out to rule out presence of ectopic thyroid tissue.
TREATMENT
The treatment of uninfected cyst or fistula is Sistrunk’s operation which comprises of complete
excision of the cyst and its tract upwards to the base of tongue, and resection of the central
portion of the hyoid bone.
Fig. 5.3: Dermoid cyst: A left external angular dermoid in a 4-year-old girl
84 Spotters in Pediatrics
SYMPTOMS
Superficial cyst may not be seen at birth but a few months to years later when it begins to
fill up.
Symptoms are usually cosmetic disfigurement.
Position- DC is formed in intrauterine life when skin dermatomes fuses and is particularly
common in head and neck, at the line of fusion of ophthalmic and maxillary facial process.
Clinically the cyst is soft, fluctuant and non-transluminant. Unlike sebaceous cyst, it is not
attached to skin.
MANAGEMENT
With a frontonasal and a lateral orbital dermoid with intraocular symptoms a CAT scan should
be done to rule out intraorbital extension. The treatment of DC is surgical excision.
DEFINITION
The term ‘hygroma’ means moist tumor and is synonymous to lymphangioma. CH are
characterized by single or multiple cysts within the soft tissue, usually involving the neck.
HISTORY
Of all the swellings of the neck the CH is the earliest to appear. It may be present at birth.
A B C
Figs 5.4A to C: Cystic hygroma. (A) Cystic hygroma from the neck extending into axilla. (B) Another cystic
hygroma in the neck. (C) Bilateral cystic hygroma
Pediatric Surgery 85
SYMPTOMS
Approximately 50 to 75% of all lymphangiomas occur in the neck. They can occur in the
submental triangle, with extension into the floor of mouth. They may acutely enlarge following
infectious processes (e.g., upper respiratory tract infections). The CH may cause respiratory
and swallowing difficulties if present in the submental or the mediastinal areas.
EXAMINATION
These masses tend to manifest as slow growing, painless masses with a doughy consistency.
They are seen at base of neck in the posterior triangle but can be very big to occupy whole of
the neck. Lesions are fluctuant and brilliantly transluminant.
DIAGNOSIS
Radiologic diagnosis is often made using ultrasound imaging. CT scanning reveals a thin walled
multicystic lesion with well-defined boundaries. MRI offers better soft tissue delineation than
CT scanning.
OBSTETRIC MANAGEMENT
Determination of fetal karyotype is recommended in all cases of suspected fetal cystic hygromas.
In isolated CH no modification to standard obstetrical management is required. LSCS is required
for large CH.
MANAGEMENT
The management of choice is surgical excision. Other techniques (e.g., cryotherapy,
sclerotherapy) have met with only marginal success. Even with surgical excision, recurrence
rates for CH are high, reported at 6 to 50%.
EMBRYOLOGY
The auricle forms during the sixth week of gestation. The first and second branchial arches
give rise to a series of 6 mesenchymal proliferations known as the hillocks of His, which fuse
to form the definitive auricle. Defective or incomplete hillock fusion during auricular development
is postulated as the source of the preauricular sinus. Another theory suggests that localized
folding of ectoderm during auricular development is the cause of preauricular sinus formation.
86 Spotters in Pediatrics
A B
Figs 5.5A and B: Preauricular sinus (A) Bilateral preauricular sinus in the father.
(B) Preauricular sinus in his 4-year-old son
ANATOMY
They are frequently noted on routine physical examination as small dells adjacent to the external
ear, usually at the anterior margin of the ascending limb of the helix. However, they have been
reported to occur along the lateral surface of the helicine crus and the superior posterior margin
of the helix, the tragus, or the lobule. The preauricular sinuses are usually found lateral, superior,
and posterior to the facial nerve and the parotid gland. In almost all cases, the duct connects to
the perichondrium of the auricular cartilage. They can extend into the parotid gland.
PRESENTATION
Most people with this malformation are asymptomatic unless infected.
MANAGEMENT
The asymptomatic sinus does not require any treatment. Once a patient acquires infection of
the sinus, he or she must receive systemic antibiotics. If an abscess is present, it must be
incised and drained. Once infection occurs, the likelihood of recurrent acute exacerbations is
high, and the sinus tract should be surgically removed.
The recurrence rate after surgery is 13 to 42 percent. Several factors contribute to recurrence
after surgery such as previous attempt at surgical removal, incomplete removal of the sinus
tract or the auricular cartilage at the base of the sinus, active infection at the time of surgery or
drainage of an abscess prior to surgery. Most recurrences occur during the early postoperative
period, within 1 month of the procedure.
Pediatric Surgery 87
CLEFT LIP (CL) AND CLEFT PALATE (CP) (Fig. 5.6)
EMBRYOLOGY
The lip and primary palate begin to develop at four to five weeks gestational age. The two
medial nasal swellings and the maxillary swellings fuse to form the upper lip. The nasal swellings
merge at deeper levels also and form the intermaxillary segment, which becomes the triangular
primary palate, so cleft lip is associated with cleft of the primary palate.
The secondary palate develops at approximately nine weeks of gestational age. It is formed
by medial growth of the palatal shelves of the maxilla, which normally fuse together and with
the nasal septum as the tongue is pushed down during development. So, the pathogenesis of
secondary cleft palate is failure of this fusion to occur.
CLASSIFICATION / ANATOMY
CL are incomplete or complete. In incomplete CL, only a portion of the vertical height of the lip
is involved while a complete CL involves the entire height of the lip. CL are unilateral or bilateral.
The primary palate is anterior to the incisive foramen, and the secondary palate is posterior
to the foramen. CP are unilateral if on one side the palatal process of the maxilla is fused with
the nasal septum. A bilateral CP is not attached to the nasal septum, and the septum is visible
through the cleft. A complete CP involves the primary and secondary palate; an incomplete CP
involves the secondary palate only.
Submucous Cleft Palate involves a triad of bifid or notched uvula, notching of the hard
palate, and muscular diastasis of the soft palate. The overlying mucosa is intact but due to the
muscular diastasis, the function is impaired. This is treated similar to the classical CP repair.
INCIDENCE
Cleft lip and palate are present in one of 1000 live births. The incidence of cleft palate alone is
one in 500 live births. Considering the cleft deformities of all races grouped together, 50 percent
are cleft lip and palate, 30 to 35 percent are palate only, and 15 to 20 percent are cleft lip only.
Approximately 10 percent of patients with a cleft deformity will have other anomalies at birth.
The risk is directly related to the frequency and severity of the clefts.
COMPLICATIONS
Patients with cleft palate may have abnormal midface development, velopharyngeal incompetence,
speech defects, and abnormal Eustachian tube function.
DEFINITION
An congenital inguinal hernia is the protrusion of abdominal contents through a patent processus
vaginalis into the inguinoscrotal region.
ANATOMY/EMBRYOLOGY/ PATHOLOGY
As the testis descends into the scrotum, it takes along with it an extension of the peritoneum,
the processus vaginalis which surrounds the testis to form the tunica vaginalis and the remaining
portion obliterates. If this extension is large enough to admit bowel, it is called a hernia while if
it is narrow and admits fluid only, it is called a congenital hydrocele.
A hernia never spontaneously resolves and requires surgery.
One third of inguinal hernia present in the first 6 month of life. Incidence in a term infant is
0.5 to 1 percent. Premature infants are at an increased risk for inguinal hernia, with the
incidence ranging from 7 to 30 percent. Also the associated risk of incarceration in this
population is more than 60 percent.
A B
Figs 5.7A and B: Inguinal Hernia. (A) Complete right inguinal hernia. (B) Incomplete right inguinal hernia
Pediatric Surgery 89
The most dreaded complication of hernia is irreducibility, strangulation and obstruction.
This carries a high mortality and recurrence rate.
DIAGNOSIS
An uncomplicated hernia presents with a smooth soft mass in the inguinal area.
Mass may extend into the scrotum and increases in size with the increase in the intra-
abdominal pressure (crying or straining)
The spermatic cord may feel thickened. A ‘rustle’ or ‘silk sign’ may be there on palpation.
An incarcerated hernia presents with irreducibility and tenderness with or without features
of intestinal obstruction.
Differential diagnosis includes hydrocele, encysted hydrocele of cord, enlarged inguinal
lymph nodes and undescended or retractile testis.
TREATMENT
The treatment of inguinal hernia is herniotomy. This should be done as early as possible. If the
baby is nursery for some other indication that precludes immediate surgery, herniotomy should
be done before the baby is discharged. Even if the hernia is not demonstrable in the clinic, a
history of an inguinal swelling given by the parents is enough to warrant inguinal exploration.
TREATMENT
Most of the cases show spontaneous closure in the first few month of life up to 3 years.
Spontaneous closure is less likely after 3 years of age and for hernia greater than 1.5 cm in
diameter.
Attempts to hasten the cure by adhesive strapping placed over the abdomen is not advocated.
Surgery is required when umbilical ring diameter measures more than 1.5 cms in diameter
or for hernia that have not closed spontaneously by 4 to 5 years of age.
TREATMENT
Lumbar hernias increase in size and should be repaired when found. Nearby fascia is mobilized
and the hernial defect obliterated by precise fascia-to-fascia closure. The recurrence rate is
low.
Pediatric Surgery 91
OMPHALOCELE (EXOMPHALOS)[OC] (Figs 5.10A and B)
PATHOLOGY
Omphaloceles are characterized by a central, epigastric, or hypogastric defect in the anterior
abdominal wall. A sac composed of peritoneum, Wharton’s jelly and the amnion covers the
defect. The umbilical cord is inserted onto the wall of the sac. The sac may rupture in utero,
during delivery or after birth. The OC may be major or minor. If the defect is more than 4 cm
in diameter or any viscera apart from the bowel (usually the liver) is herniating, the OC is
termed major. Larger OCs may have a hypoplastic peritoneal cavity, making the management
difficult. The minor OCs (congenital hernia of the cord) are simpler to treat. In both the types,
the abdominal musculature is intact and the recti form the lateral border of the defect.
A B
Figs 5.10A and B: (A) Exomphalos-minor (B) Exomphalos-major
INCIDENCE
In the west, combined incidence of omphalocele and gastroschisis is 1 in 2000 births.
EMBRYOLOGY
The embryogenesis of OC is controversial. It is thought to result due either to the failure of
intestines to return to the abdominal cavity or failure of body wall morphogenesis. This is
usually not regarded as a hereditary condition.
ASSOCIATED PROBLEMS
OC are commonly associated with prematurity and low birth weight. 35 to 80 percent OCs are
associated with major congenital anomalies. The anomalies are mostly extraintestinal:
Cardiovascular: Tetralogy of Fallot, atrial septal defect
Syndromes: Trisomies (13 to 15, 18, 21); Beckwith-Wiedeman syndrome (BWS) (OC,
macroglossia and gigantism); Upper midline syndrome or Cantrell’s pentalogy (defects in
anterior abdominal wall, sternum, diaphragm, pericardium and cardiac anomaly); Lower
midline syndromes: bladder or cloacal exstrophy.
Neural tube and musculoskeletal defects
92 Spotters in Pediatrics
PRENATAL MANAGEMENT
Diagnosis: 1.Ultrasonography 2. Elevated maternal serum alfa protein 3. Amniocentesis or
Chorionic villi biopsy to look for chromosomal abnormalities.
Mode of Delivery
Routine cesarean delivery does not improve the outcome of babies with minor OCs. However,
for large OCs and the ones in which liver protrudes out, cesarian section is preferred to avoid
injury to the sac or the liver.
POSTNATAL MANAGEMENT
Usually, neonates with intact OCs are in no distress, unless associated pulmonary hypoplasia is
present. Examine the baby carefully to detect any associated problems. Give nothing by mouth
pending operative repair. Administer maintenance intravenous fluids, and cover the OC sac with
sterile saline-soaked gauze and plastic wrap, using sterile technique. As an alternative or during
transfer, the baby’s lower torso may be placed in sterile plastic bag. The OC should be supported
by dressings to avoid excessive traction to the mesentery. Prophylactic antibiotics should be
given preoperatively. Blood sugar should be done to look for BWS.
Closure of a small or moderate size OC usually is accomplished without difficulty. Closure
of a giant OC that contains the liver can be very challenging and may require multistage
procedure. For very large OCs or the ones in which surgery cannot be undertaken due to
co-morbid conditions, application of 0.5 percent mercurochrome in 65 percent alcohol may
be done to promote epithelialization. A ruptured OC is treated like gastroschisis.
PROGNOSIS
Prognosis is dependent upon the severity of the associated problems. Even giant OCs can be
closed, although multiple procedures may be necessary. The limiting factor for many of these
babies, however, is their diminutive thoracic cavities and associated pulmonary hypoplasia and
resultant chronic respiratory failure.
PATHOLOGY
GC is characterized by a defect that is fairly uniform in size and location; a 5-cm vertical
opening to the right of the umbilical cord. The small bowel and the stomach are usually herniating
through the defect that is very small when compared to the size of the herniated viscera. This
causes vascular compromise of the viscera. Also the exposure to the amniotic fluid is supposed
to result in deposition of fibrin on the bowel. The edema and the fibrin deposit result in
foreshortening of the bowel. The vascular compromise increases the incidence of bowel atresia
in these babies.
Pediatric Surgery 93
Fig. 5.11: Gastroschisis, note the insertion of the umbilical cord and the absence of sac
A B
EMBRYOLOGY
The embryogenesis of GC is unclear. It is thought to result due abnormal involution of right
umbilical vein resulting in a mesenchymal defect. Like omphaloceles, GC is also not regarded as
a hereditary condition.
ASSOCIATED PROBLEMS
GC is commonly associated with prematurity and low birth weight. Unlike omphaloceles, the
major associated anomalies with GC are intestinal. GC is associated with bowel atresia,
malrotation, meconium peritonitis and short gut syndrome. There is associated bowel dysfunction
that may last from a few weeks to months.
PRENATAL MANAGEMENT
Diagnosis
1. Ultrasonography, 2. Elevated maternal serum alfa protein.
94 Spotters in Pediatrics
Mode of Delivery
When gastroschisis is diagnosed, serial USG examinations are done to detect signs of intestinal
injury (decreased peristalsis or distension, increased echogenicity). Pregnancy should be
continued to term if there is no evidence of intestinal injury and baby should be allowed to
deliver normally. Routine cesarean delivery has no impact on the outcome of infants with GC.
However, if there is evidence of bowel injury, the benefits of cesarean delivery must be weighed
against the risks associated with prematurity. Delivery should be done at a center where the
required nursery and neonatal surgical care are available.
POSTNATAL MANAGEMENT
Fluid, electrolyte, and heat losses must be minimized and corrected. An intravenous fluid bolus
(20 mL/kg RL) should be administered, followed by 5 percent dextrose with ¼ NS at 2-3 times
the baby’s maintenance fluid rate. The baby should be placed under a radiant heater, and the
exposed intestines should be covered with plastic wrap and supported to avoid excessive traction
on the mesentery. As an alternative, the baby’s lower torso may be placed in a sterile bag.
Intravenous antibiotics and vitamin K should be administered and the baby taken for emergency
surgery. A direct abdominal closure is seldom possible as tight closure of the abdominal cavity
limits excursion of the diaphragm and impedes venous return to the heart. A two stage surgery
is done wherein the first stage the bowel is put into a sterile bag attached to the anterior
abdominal wall and the bag is hanged. As the edema reduces, the bowel is gradually pushed into
the abdomen over a period of 5-7 days after which the abdominal closure is undertaken. The
baby may require ventilatory support and parenteral nutrition. Associated bowel atresia or
perforation are more difficult to treat.
PROGNOSIS
Prognosis is dependent mainly upon severity of associated problems, including prematurity,
intestinal atresia, short gut, and intestinal inflammatory dysfunction.
Fig. 5.13: Achalasia cardia (A) barium swallow AP view. (B) Lateral view, X-Ray
depicting narrowing of the distal esophagus Photographs courtsey: Dr. Prof. Budhwani (Bhopal)
DIAGNOSIS
Contrast esophagogram - shows dilated esophagus with smooth narrowing of the distal
esophagus and esophagogastric junction also described as “bird-beak” sign.
Manometry: There is a failure of relaxation of the lower esophagogastric junction with
swallowing. However, it may be difficult to differentiate achalasia from congenital esophageal
stenosis, since both may have similar symptoms and radiological appearance. This issue is
solved by doing an esophagoscopy before the definitive procedure, when the esophagogastric
junction admits the scope easily if there is achalasia as this is a functional obstruction. In
stenosis or stricture, the scope cannot be negotiated easily.
TREATMENT
A laparoscopic or open modified Heller’s esophagocardiomyotomy with or without an antireflux
procedure is the standard management of achalasia cardia. Other modalities of treatment
described with varying success rate are pharmacological and mechanical. Pharmacotherapy
includes the use of smooth muscle relaxants like isosorbide dinitrate or calcium channel blockers
like nifedipine or local injection of botulin toxin which has been tried with some success in
adults. Mechanical therapy includes forceful pneumatic dilatation of the esophagus; however,
symptomatic improvement is mostly seen in older children. Recurrence of symptoms within
six months and esophageal perforation are the main concerns of the procedure.
B C
Figs 5.14A to C: Infantile Hypertrophic pyloric stenosis. (A) Note classical visible peristalsis.
(B) The pyloric tumor (C) Ramstedt’s pyloromyotomy
CAUSE
The cause of IHPS is unclear. Proposed theories include, among others, abnormal circular
muscle innervation, immature ganglion cells, decreased nitric-oxide stimulation of muscle fibers,
and abnormal levels of gastrin.
PATHOPHYSIOLOGY
Due to protracted loss of hydrogen and sodium ion due to the vomiting, there ensues a
hyponatremic, hypokalemic, hypochloremic, metabolic alkalosis. It is imperative to correct
these metabolic problems before operating the baby. Hence, IHPS, despite being an obstruction,
is a medical emergency.
DIAGNOSIS
IHPS most commonly is seen in infants aged 3-6 weeks. Premature infants tend to present at 3-
6 weeks from birth and not at 3 to 6 weeks from the due date. IHPS is rarely seen in children
older than 6 months. Male-to-female ratio is 4 to 6:1. IHPS accounts for 30 percent of patients
presenting with non-bilious vomiting of curdled milk that may be projectile.
On examination, the baby is dehydrated. There usually is seen a gastric peristalsis, which
may be a normal finding in a thin baby. The most important and diagnostic feature is the
palpation of the olive shaped pyloric mass in the right upper quadrant at the lateral edge of
Pediatric Surgery 97
the rectus abdominis muscle. This is best palpated after the infant has vomited and when calm,
or when the gastric contents have been removed via nasogastric tube. Once this is felt, no
imaging is required and one may proceed to surgery when appropriate.
But with the reducing skill and patience to examine, more and more surgeons are shifting to
ultrasonographic examination for diagnosis. With a 5 or 7.5 MHz transducer and in reliable
hands, USG has a sensitivity and specificity of 100%. Sonographic signs of IHPS are:
• Muscle thickness (serosa to mucosa) greater than 3 mm
• Pyloric channel length greater than 17 mm
• Pyloric thickness (serosa to serosa) of 15 mm or greater
Barium meal and other imaging modalities have very little to contribute.
At the time of inserting intravenous line, samples should be drawn for serum electrolytes,
complete blood count and serum BUN.
DIFFERENTIAL DIAGNOSIS
Includes Gastro-esophageal reflux, urinary tract infection, adrenal hyperplasia, duodenal stenosis,
achalasia cardia, pyloric antral web and gastroenteritis.
MANAGEMENT
The initial management aims to correct the dehydration and the fluid and electrolyte imbalance.
The initial fluid should be dextrose 5% with normal saline (DNS) or dextrose + 0.45% saline
(equal volume of NS and 10% dextrose). Once a urine output is established, KCl is added at 3
meq/kg/day. The electrolytes are repeated periodically. Once the electrolytes normalize, the
baby is taken for Ramstedt’s pyloromyotomy. Post-operatively the baby is started on glucose
feeds after 3-4 hours and later changed to milk. The baby can be discharged 48-72 hours after
the surgery.
PROGNOSIS
Surgery is curative with minimal mortality.
PATHOLOGY
Duodenal obstruction may be complete or incomplete. Duodenal atresia is an example of complete
intrinsic obstruction. Duodenal stenosis is an example of an incomplete intrinsic abnormality;
however, duodenal extrinsic stenosis can occur in association with malrotation, annular pancreas
or a preduodenal portal vein. The intestine on either side of the defect may be in apposition (type
1), separated by a fibrous cord (type 2), or gap (type 3). In 85 percent cases, the obstruction
occurs distal to the ampulla of vater while in 15 percent cases it is proximal to it.
98 Spotters in Pediatrics
Fig. 5.15: Plain X-ray and barium contrast study. Note the smooth
end of the duodenum, differentiating it from malrotation
FREQUENCY
The incidence of DA is 1 case per 6000-10000 births.
EMBRYOLOGY
Duodenal maldevelopment occurs secondary to either inadequate endodermal proliferation (gut
elongation outpaces proliferation) or failure of the epithelial solid cord to recanalize (failure of
vacuolization).
ASSOCIATED PROBLEMS
Down’s syndrome occurs in approximately 1/3rd patients followed by malrotation and congenital
heart disease. Esophageal atresia and imperforate anus (Triple atresia) may be associated.
PRENATAL MANAGEMENT
Polyhydramnios is present in about 50 percent cases of DA. Sonographic features of high
intestinal obstruction (i.e., duodenal obstruction with a dilated stomach [double bubble sign])
become apparent in the third trimester. Prenatal diagnosis of duodenal atresia should lead to a
search for other associated anomalies and amniocentesis for karyotype analysis. However, in
the presence of polyhydramnios, normal findings on ultrasonography of the fetus do not exclude
duodenal atresia.
POSTNATAL DIAGNOSIS
Normal newborn infants have gastric aspirates that measure less than 5 mL. An infant with a
gastric aspirate that measures greater than 30 mL in the delivery room or newborn nursery
should be evaluated for duodenal atresia and other causes of upper intestinal obstruction.
Associated conditions should be looked for.
Pediatric Surgery 99
Symptoms of upper intestinal obstruction commence within the first 24 hours after birth.
However, patients may present hours or days after delivery. Sustained vomiting (bilious or non
bilious) is the most common symptom, occurring in approximately 85 percent of cases. Non-
bilious vomiting occurs when atresia is present above the papilla of Vater. Normal meconium
may be observed in the early stages. An infant with duodenal atresia typically has a scaphoid
abdomen. One sometimes may note epigastric fullness from dilation of the stomach and proximal
duodenum.
Differentials are malrotation and volvulus, intestinal atresia or stenosis in other locations,
and extrinsic duodenal obstruction or congenital bands.
RADIOLOGY
A plain erect X-ray of abdomen shows the double-bubble sign caused by the distended stomach
and duodenum (Fig. 5.15). In complete obstruction, the rest of the abdomen is gasless. In
partial obstruction, there may be some gas in the rest of the abdomen.
It is extremely important to do an upper GI barium study to look for the cause of obstruction.
In DA and DS, the duodenum is dilated but has a smooth contour (Fig. 5.16). In small bowel
volvulus, the barium ends in a corkscrew. If a volvulus is suspected, the baby requires rapid
resuscitation and urgent laparotomy.
MANAGEMENT
Correction of hypokalemic/hypochloremic metabolic alkalosis is done. The baby is also started
on intravenous antibiotics and vitamin K. After adequate resuscitation, a diamond shaped duodeno-
duodenostomy is done.
PROGNOSIS
Prognosis is dependent upon the severity of the associated problems. Result of anastomosis is
good.
Fig 5.16: Malrotation: Note right sided jejunal loops and coiling at the
end of dilated duodenum. This baby also had a paraduodenal hernia
PATHOLOGY
The DRF can be classified into 3 types according to the stage at which the arrest of the
development has taken place. Type I or non-rotation occurs when no rotation of the bowel
takes place. Type II or incomplete rotation takes place when the rotation is arrested at some
stage. Type III or Incomplete fixation takes place when the bowel has completed its descent but
the fixation of mesentery and retroperitonealisation of parts of bowel have not occurred. The
last category results in the formation of internal hernias and predispose to cecal volvulus. In
types I and II, the basic problems are two: 1. Formation of bands (Ladd’s bands) between
cecum and abdominal wall lateral to the duodenum. These bands cause obstruction to the
second part of the duodenum (D2) and 2. Narrowing of the base of mesentery resulting due to
the ileocecal junction lying close to the duodenojejunal junction. This predisposes to small
bowel volvulus.
FREQUENCY
Intestinal malrotation occurs at a rate of 1 in 500 live births. Most infants with gastroschisis,
omphalocele, or congenital diaphragmatic hernia present with intestinal malrotation. Approximately
50 percent of patients with duodenal atresia and 33 percent of patients with jejunoileal atresia
have a malrotation as well.
PRESENTATION
History of presenting illness varies according to acute or chronic presentation as well as according
to type of rotational defect.
Pediatric Surgery 101
Acute Midgut Volvulus
Most patients present in infancy with sudden onset of bilious emesis. Initially the abdomen is
scaphoid. Once intestinal ischemia ensues, there is tenderness in the abdomen along with
increasing distension and bleeding per rectum.
Intestinal Herniation
Patients have recurrent abdominal pain with vomiting as well as constipation at times. They are
often diagnosed with psychosocial problems. Bilious vomiting, with or without distension implies
intestinal obstruction unless proven otherwise.
MANAGEMENT
It is extremely important that a baby with bilious vomiting irrespective of abdominal distension
be urgently evaluated for a high bowel obstruction. A rapid resuscitation and a UGI study are
102 Spotters in Pediatrics
PROGNOSIS
The prognosis of these patients after surgery is usually good. Some patients may have prolonged
duodenal dysmotility for which additional procedures such as duodenoplasty may be required.
The most difficult problem to handle is a short-bowel syndrome.
CAUSES
1. Ruptured hollow viscus: Necrotizing enterocolitis and spontaneous perforation of the stomach
in preterm newborns are the first and second most common causes of organ rupture in the
newborn and infants, respectively. Idiopathic bowel perforation may also affect other parts
of the GI tract. These perforations are usually single, small antimesenteric with minimal
bowel necrosis. A suggested etiological factor is a localized vascular accident.
2. Other causes include perforation secondary to obstructions (atresia, Imperforate anus or
Hirschsprung’s disease).
3. Infection of the peritoneal cavity with gas-forming organisms
4. Iatrogenic: Pneumoperitoneum occurs in about 1% of mechanically ventilated children in
intensive care units. It arises from ruptured pulmonic blebs (minute rupture in alveoli subjected
to the stress of mechanical ventilation) dissecting retroperitoneally into the abdomen rather
than outwardly into the pleura. This is known as the Macklin effect. Some suggestions
pointing toward this etiology are the presence of interstitial emphysema, retrocardiac
pneumomediastinum, pneumothorax, dissection of air into the soft tissues of the neck, the
absence of fluid or meconium in the peritoneum and the presence of air in the stomach in a
child with severe pulmonary disease on mechanical ventilation.
Pediatric Surgery 103
A B
Figs 5.17A and B: Pneumoperitoneum (A) 3 days pretern neonate presented with refusal to feed
and abdominal distension. (B) X-ray Chest and abdoment in erect position reveals gas under
diaphragm depicting hollow viscous perforation
CLINICAL FEATURES
The clinical features depend on the cause of the pneumoperitoneum. Benign causes of
pneumoperitoneum are unaccompanied by signs of peritonitis. Perforated hollow abdominal
viscus causes peritonitis, which may be diffuse (commonly) or localized. The severity of
peritonitis also depends on the type of GI contents released into the peritoneal cavity.
RADIOLOGICAL FEATURES
At least 2 radiographs should be obtained, including a supine abdominal radiograph and either an
erect chest image and or a left lateral decubitus image. A common sign is a collection of gas in
the right upper quadrant adjacent to the liver, lying mainly in the subhepatic space and the
hepatorenal fossa, which is visible as an oval or triangular gas shadow not obviously in continuity
with the rest of the bowel. Clear visualization of the outer as well as the inner wall of a bowel
loop—Rigler’s sign—is a valuable indication of a pneumoperitoneum.
The falciform ligament in particular, and occasionally the umbilical ligaments and urachus,
may be visualized by free gas when it lies on either side. Relatively large amounts of gas may
accumulate as with gastric or colonic perforation and show up beneath the diaphragm (cupola
sign) or on the upper part of the abdomen in a decubitus lateral film.
Management: depends on the cause of the pneumoperitoneum and the general condition of
the baby. For babies on ventilation, the management is directed towards the cause of the
pneumoperitoneum. When pneumoperitoneum results due to necrotizing enterocolitis, peritoneal
drainage is recommended. For other gut perforations, depending upon the general condition
laparotomy is performed.
104 Spotters in Pediatrics
PROGNOSIS
This is again dependant upon the etiology and the general condition of the baby.
CLINICAL FEATURES
Clinically there is a triad of colicky abdominal pain, a sausage like mass, and red currant jelly
stool.
DIAGNOSIS
Barium enema- confirms the diagnosis, which will show either a filling defect or a spring
coil appearance. This procedure helps in both diagnosis and therapy. Successful reduction
occurs in 50 to 75 percent in early cases.
TREATMENT
The non-operative treatment is hydrostatic reduction done either by barium enema
(fluoroscopy-guided) or normal saline (ultrasound guided). It should be attempted only on
cases less than 24 hours old that do not have significant abdominal distension. Rapid
rehydration and intravenous antibiotic administration should be done beforehand. The
procedure should be done using a steady hydrostatic pressure under the supervision of a
pediatric surgeon, keeping the theatre ready for a laparotomy, should the reduction fail.
A B C
Figs 5.18A to C: (A and B) Red currant jelly stool (C) Barium enema showing “spring coil” appearance
Pediatric Surgery 105
The operative treatment is either reduction or resection and anastomosis depending on
viability of the gut.
PROGNOSIS
There is 5-10 percent chance of recurrence after barium reduction. This occurs within first 48
hours after reduction. The rate of recurrence after surgical reduction is about 1 percent to 5
percent.
PATHOLOGY
Hirschsprung’s disease is characterized by a congenital absence of ganglion cells in the distal
colon and rectum. This results in an inability of the distal bowel to relax in response to a
peristaltic wave causing a functional obstruction. The proximal bowel dilates producing a
megacolon. Aganglionosis begins with the anus, which is always involved, and continues
proximally for a variable distance. It typically extends to the rectosigmoid junction in about 80
percent cases. It is continuous and uninterrupted till the proximal ganglionated segment is
reached. Both the myenteric (Auerbach) and submucosal (Meissner) plexus are absent, resulting
in reduced bowel peristalsis and function.
FREQUENCY
HD occurs once in every 5,000 live births. It may affect more than one family member in 4 to
8 percent cases. The longer the length of the affected segments of the bowel, the higher the rate
of familial incidence.
A B
Figs 5.19A and B: Hirschsprung’s disease. (A) Operative photograph of a case of Hirschsprung’s disease
showing the narrow and the dilated colon and transitional zone. (B) Barium enema showing transition zone (a
funnel shaped area between the normal distended colon and aganglionic segment)
106 Spotters in Pediatrics
EMBRYOLOGY
Ganglion cells, which are derived from the neural crest, migrate caudally with the vagal nerve
fibers along the intestine. These ganglion cells arrive in the proximal colon by 8 weeks of
gestational age and in the rectum by 12 weeks of gestational age. Arrest in migration leads to an
aganglionic segment. This is believed to result in clinical HD.
ASSOCIATED PROBLEMS
HD can be associated with Down’s syndrome in 5 to 15 percent cases. Atresia of both small
and large bowel and imperforate anus can be associated. Various neurocristopathies such as
MEN type 2A, Waardenburg syndrome and Smith-Lemli-Opitz syndrome have been described
with HD.
DIAGNOSIS
HD should be considered in any child who has a history of constipation dating back to newborn
period. The usual presentation in the newborn consists of non-passage of meconium within
first 24 hours after birth, delayed passage or prolonged passage of meconium. However this
history may be absent in 6 to 42 percent of patients. Other presenting symptoms are poor
feeding, constipation, persistent distension of abdomen, and emesis. Any form of small or large
bowel perforation in a newborn should raise the suspicion of HD.
Patients with HD are prone to developing enterocolitis, which is the major cause of mortality
and morbidity. The entity manifests clinically with explosive diarrhea, abdominal distension and
fever. In patients with Down’s syndrome having HD, the incidence of enterocolitis is very high.
On physical examination, there is distension of abdomen. The perineal examination is important
so that an anterior anus is not mistaken for an HD. Rectal examination is classically said to
reveal an empty anus and rectum that grips the finger and the explosive passage of feces and
gas when the finger is withdrawn. However, rectal examination (or any rectal manipulation,
e.g. insertion of thermometer) should be avoided as it may alter the findings of barium enema.
RADIOGRAPHIC STUDIES
Plain X-ray of abdomen (erect): Plain X-ray may show paucity of gas in the rectal area. In
newborn, perforation may be the initial presenting feature.
Barium enema: The person doing the barium enema should be well versed with the technique.
Enema should be done by hand injection using gentle pressure. A Foley’s catheter should not be
used and no rectal manipulation should have been done in 48 hours preceding the procedure.
Classical finding is of a spastic distal intestine with proximal dilated colon. Other features
include an elongated right-sided sigmoid colon that is wider than the rectum. A postevacuation
radiograph 24 hours later may show incomplete evacuation of barium. In newborns, the classical
features may not be prominent.
Pediatric Surgery 107
ANORECTAL MANOMETRY
This technique relies on the absence of a relaxation reflex in response to rectal distension. It is
unreliable in newborn less than 12 days of age.
RECTAL BIOPSY
This is the gold standard for the diagnosis of HD. Special suction biopsy equipment has been
devised that has made rectal biopsy a bedside procedure. However, the pathological evaluation
of the suction rectal biopsy is considerably more difficult than that of full-thickness biopsy that
is conventionally done.
HISTOLOGIC FINDINGS
Both the myenteric (Auerbach) and submucosal (Meissner) plexus are absent from the muscular
layer of the bowel wall as evident by the absence of ganglion cells. Hypertrophied nerve fibers
enhanced with acetylcholinesterase stain are observed.
DIFFERENTIAL DIAGNOSIS
In the newborn period, the conditions that may mimic HD are sepsis, prematurity, meconium
plug syndrome, meconium ileus, distal vowel atresia, low imperforate anus and hypothyroidism.
In children beyond six months of age, the important differential diagnosis is habitual constipation
in which soiling is common and obstruction rare. In habitual constipation, the anus is short and
the rectal ampulla is loaded with stools.
ULTRASHORT DISEASE
Ultrashort HD (or anorectal achalasia) has caused a great deal of confusion among clinicians.
The cause of confusion is that these patients have chronic constipation for many years along
with fecal soiling. This makes it difficult to differentiate them from habitual constipation. Further,
the rectal biopsy may show ganglion cells. However, the manometry shows failure of anorectal
relaxation with rectal distension.
PROGNOSIS
Barring TCA, the outcome in infants and children with HD is generally quite good. Most children
obtain fecal continence and control. However, children with Down syndrome may be expected
to have lower rates of continence, and some authors support placement of a permanent ostomy.
FREQUENCY
ARM or imperforate anus occurs in approximately 1 in 5000 live births.
EMBRYOLOGY
Interference with anorectal structure development at varying stages leads to various anomalies,
ranging from anal stenosis, incomplete rupture of the anal membrane (i.e. covered anus), or
anal agenesis (a low lesion) to complete failure of the upper portion of the cloaca to descend
and failure of the proctodeum to invaginate (a high lesion). Continued communication between
the urinary tract and rectal portions of the cloacal plate causes rectourethral fistulas or rectovaginal
fistulas.
CLASSIFICATION
Its relation to the levator ani muscles broadly classifies ARM. Levator ani is a funnel shaped
muscle. Atresias where the lowermost end of the rectum ends above the levator muscle complex
are defined as high (supralevator) anomalies. The ones in which the lower end is located within
the levator funnel are termed intermediate (translevator) anomalies. Both these lesions very
often include a fistula from the atretic rectum and the genitourinary tract. Infralevator lesions
(i.e., low) are more likely to have perineal or posterior fourchette fistulas.
A B
Figs 5.20A and B: ARM in males (A) Classification of ARM in males (B) Low ARM-note the meconium track
Pediatric Surgery 109
ASSOCIATED PROBLEMS
The anomalies to be looked for are the members of the VACTERL (vertebral, anorectal, cardiac,
tracheo-esophageal, renal and limb) association. Duodenal atresia and Down syndrome are the
other associated problems.
PRESENTATION
Routine newborn examinations usually detect ARM early in life. Some types of malformations
(e.g. anterior ectopic anus, anal stenosis) are less readily detected. Patients may present with
these lesions much later with a history of chronic constipation or pain. Delayed presentation is
common in areas where access to medical care is unavailable.
A nasogastric tube should be passed to rule out esophageal atresia that is associated with 10
percent of all ARMs. Associated anomalies should also be looked for especially sacral anomaly
that has a bearing on the future continence.
Males
Males usually present in the neonatal period. The single most important observation in a male
baby with ARM is the presence of meconium track in the perineum. The tract starts from the
normal anal site and proceeds anteriorly in the midline to a variable extent. It is filled with
meconium or air. If this track is present 24 hours after birth, the anomaly is managed as a low
type otherwise intermediate or high. A flat perineum also suggests a high anomaly.
A B
Figs 5.21A and B: Female ARM (A) Anovestibular fistula (B) Cloaca
Females
In females, a fistula to the exterior is usually present. The number of openings in the perineum
is observed. Imperforate anus with a single opening in a small introitus implies a cloacal anomaly
110 Spotters in Pediatrics
wherein all the three tracts, i.e. urinary, genital and anorectal form a common channel before
opening into the perineum. If two openings are seen, the meconium may be seen coming out of
the posterior (vaginal) opening. This is a rectovaginal fistula. If along with an imperforate anus,
three openings are seen in the perineum, it implies an anterior ectopia or a rectovestibular
fistula.
INVESTIGATIONS
In Males
1. Plain X-ray abdomen (erect): This is a valuable investigation as it gives information regarding
associated anomalies (especially spine), presence of gut perforation and more proximal
obstructions that may be associated (duodenal and esophageal atresia).
2. Invertogram or cross-table lateral view: This is done after 24 hours after birth to define the
lower most extent of bowel gas.
3. Echocardiogram and ultrasonogram: These investigations are done as part of institutional
protocol or on clinical suspicion of a cardiac or renal anomaly.
In Females
No special investigation except a plain abdominal X-ray is usually required. For cloacal anomaly,
an ultrasonogram should be done to look for urinary tract obstruction.
Management of ARM in females and males differs. In males, if a meconium track is visible in
the perineum, a single stage correction using a Y-V anoplasty without colostomy is done. If no
track is visible or there is passage of meconium from the urethra, a colostomy is required. The
patient would later need a definitive surgery for creation of a neo-anus. The commonest technique
used for this purpose is posterior sagittal anorectoplasty (PSARP). 3 months after the PSARP,
closure of colostomy is done.
In females, a definitive procedure can be undertaken early with or without a diverting
colostomy. In cloacal anomalies, in the absence of fistula or in presence of obstruction, a
diverting colostomy is required.
Certain rare varieties of anorectal malformations (e.g. perineal canal) may require different
treatment modalities.
PROGNOSIS
Results of surgery in terms of survival depends upon the associated life-threatening anomalies
and delay in referral. The continence achieved depends on the level of atresia, associated sacral
anomalies, amount of musculature present and operative technique used.
FREQUENCY
CDH occurs in 1 per 3000 live births.
PATHOLOGY
Because of visceral herniation into the chest during crucial stages of lung development, airway
divisions and alveolarization are hampered on the ipsilateral as well as the contralateral side.
Development of the pulmonary arterial system parallels development of the bronchial tree, and,
therefore, fewer arterial branches are observed in CDH. Abnormal medial muscular hypertrophy
is observed, and the pulmonary vessels are more sensitive to stimuli for vasoconstriction.
Pulmonary hypertension resulting from these arterial anomalies leads to right-to-left shunting at
atrial and ductal levels. This persistent fetal circulation leads to right-sided heart strain or failure
and to the vicious cycle of progressive hypoxemia, hypercarbia, acidosis, and pulmonary
hypertension observed in the neonatal period. The infant with CDH also has an impairment of
the pulmonary antioxidant enzyme system and is more susceptible to hyperoxia-induced injury.
In 10-15 percent cases, a non-muscular hernial sac is present.
EMBRYOLOGY
The posterolateral diaphragmatic defect is postulated to result from failure of closure of the
pleuroperitoneal canals, one of the four embryological structures that form the diaphragm. The
canal remains open when the intestines return to the abdomen at 10 weeks’ gestation. Some
intestine and other viscera enter the thorax and lead to compression of the developing lung at
the crucial pseudo glandular stage and shifting of the mediastinum to the contralateral side. This
causes compression of the heart and the contralateral lung as well.
ASSOCIATED PROBLEMS
Intestinal malrotation and gastric volvulus can be associated with CDH.
112 Spotters in Pediatrics
A B
Figs 5.23A and B: Congenital diaphragmatic hernia (A) Newborn presented with respiratory
distress and scaphoid scaphoid abdomen (B) X-ray showed a left CDH
PRESENTATION
Antenatal Ultrasonography (ANUG)
The diagnosis of CDH is frequently made prenatally as early as 25 weeks’ gestation depending
on the use of ANUG. Ultrasonography may reveals polyhydramnios, an absent intra-abdominal
gastric air bubble, mediastinal shift, and hydrops fetalis. Differential diagnoses on prenatal
ultrasonography are cystic adenomatoid malformation, pulmonary sequestration, mediastinal
cystic processes (e.g., cystic teratoma, thymic cysts) and neurogenic tumors.
Postnatal
History and clinical findings vary with the degree of pulmonary hypoplasia and visceral herniation.
In the infant presenting in the neonatal period without prenatal diagnosis, variable respiratory
distress and cyanosis, feeding intolerance, and tachycardia are noted. In the physical examination,
the abdomen is scaphoid and chest asymmetrical. On auscultation, breath sounds are diminished
on the side of herniation. Patients may present beyond neonatal period with recurrent chest
infections or intestinal obstruction.
DIAGNOSIS
The diagnosis of CDH is confirmed by a plain radiograph of chest and abdomen, which
demonstrates loops of intestine and/or gastric bubble in the chest. The chest demonstrates
angulation of the mediastinum and shifting of the cardiac silhouette towards the contralateral
side. The abdomen should show paucity or absence of gas shadows. Chest radiographs are
unreliable in assessing the degree of pulmonary hypoplasia.
PROGNOSTIC FACTORS
The prognosis is dependent on a complex interplay of various factors, some of which are:
Pediatric Surgery 113
Onset of symptoms >24 hours after birth <6 hours after birth
ANUS (booked pregnancy):
1. Detection No or late detection Detection at < 24 weeks
2. Position of stomach Below diaphragm Above diaphragm
(>90% survival) (30% survival)
3. Ventricular disproportion None in 3rd trimester Present in 2nd trimester
4. Side Left Right
Physiological factors
1. PO2 and PCO2 Normal/improved on ventilation Unresponsive
2. Preductal pH >7.2 (100% survival) <7 (11%) survival)
TREATMENT
Prenatal Care
The prenatal diagnosis of CDH should be followed by a search for other congenital anomalies
especially neurological and cardiovascular. Mother should be referred to a tertiary care center
where the facilities of respiratory support and services of a pediatric surgeon are available.
CDH, by itself, is not an indication for an elective cesarean section.
POSTNATAL MANAGEMENT
It is essential to understand that CDH is a medical and not a surgical emergency. Firstly, nasogastric
intubation should be done to decompress the stomach. If the baby is still having respiratory
distress, endotracheal intubation should be done. Bag and mask ventilation is contraindicated.
D B
Figs 5.24A to D: Congenital Diaphragmatic Hernia. (A) Two days old infant was admitted for respiratory distress
and kept of oxygen. (B) X-ray revealed Right sided diaphragmatic hernia. (C) 3rd post operative day. (D) At the
time of discharge, note the creation of ventral hernia
114 Spotters in Pediatrics
Arterial and venous access should be acquired through the umbilical route, if available.
Temperature and volume status of the baby should be maintained. Stressful stimuli should be
kept to the minimum as they result in increase in the already elevated pulmonary artery pressure.
Muscle paralysis and sedation may be employed, if the baby is to be put on a ventilator.
Pressure limited ventilation should be used, allowing the lowest airway pressures required
to stay on the steep side of the pressure volume loop and to maintain preductal oxygen saturation
greater than 90 percent. High-frequency oscillatory ventilation (HFOV) is recommended for
infants with hypercarbia and hypoxemia resistant to conventional ventilation or requiring high
PIP.
Surfactant rescue, if given within 24 hours of birth, is associated with an improvement in
oxygenation in neonates with CDH who were given a poor prognosis antenatally. Inhaled nitric
oxide has proven to be a highly selective pulmonary vasodilator and has been used as rescue
therapy in babies with pulmonary hypertension. Tolazoline is being effectively employed to
lower pulmonary pressures. Extracorporeal membrane oxygenation (ECMO) is being used
with varying success.
Surgical Management
The optimal timing for surgical repair remains unproven. A baby that has not adequately responded
to ventilatory support is unlikely to benefit from surgery. At the same time, there is evidence
that improvement in the pulmonary vascular resistance occurs even without surgical repair if
appropriate ventilatory strategies are employed. Surgically, the herniated viscera are reduced by
an abdominal or thoracic approach and diaphragm is repaired. In very large defects, adjacent
structures are used to cover the defect. The ventilatory support, commenced before surgery, is
continued in the post-operative period. Weaning is done very slowly and deliberately, as tolerated
by the baby.
TYPES
It is either complete (affecting entire hemidiaphragm) or partial (affecting
one portion usually the anterior aspect). It can be congenital or acquired.
ETIOLOGY
In congenital eventration phrenic nerve may be absent or hypoplastic.
It can also be due to birth injuries causing trauma to phrenic nerve.
Fig. 5.25: Eventration of
SYMPTOMS AND MANAGEMENT diaphragm
Eventration of diaphragm may be asymptomatic or may present with recurrent chest infections
and respiratory distress. The symptomatic eventrations requires repair by plication through
abdominal or thoracic approach.
Pediatric Surgery 115
PHIMOSIS (Figs 5.26A and B)
Phimosis is the inability to retract the distal prepuce over the glans penis. There are two kinds
of phimosis, based on age and pathophysiology: congenital phimosis and acquired phimosis.
Once the foreskin can be retracted so that the glans penis partially appears, a phimosis is no
longer present.
ANOTOMICAL CONSIDERATIONS
Newborn foreskin cannot be retracted due to natural adhesions between foreskin and glans.
Later epithelial debris (smegma) accumulates and separates both structures. The acquired phimosis
results from either trauma (forceful stretching) poor hygiene causing chronic balanoposthitis
or balanitis xerotica obliterans (BXO). BXO is a chronic inflammatory process resulting in
sclerotic epithelial changes of the glans penis, prepuce and urethral meatus individually or
collectively. This can result in narrowing of the prepuce as well as urethral meatus.
A B
Figs 5.26A and B: Phimosis (A) In a newborn (B) Balanitis xerotica obliterans
SYMPTOMS
In young child there is difficulty in micturition and, ballooning of prepuce as it becomes full.
There may be recurrent posthitis causing pain and purulent discharge.
In severe phimosis back pressures may lead to hydroureter and hydronephrosis.
Forceful retraction may result in paraphimosis.
EXAMINATION
It is difficult to retract prepuce in infant less than one year age due to adhesion between prepuce
and glans. But it is possible to retract loose skin until one see the orifice in the prepuce and
assess its size.
TREATMENT
Tight preputial orifice, ballooning of prepuce during micturition with poor urinary stream,
recurrent posthitis, BXO and recurrent urinary tract infection are considered to be indications
for circumcision.
116 Spotters in Pediatrics
CLINICAL FEATURES
It is common in teenage boys. This condition is unnoticed for many hours, because it is not
painful until the glans begins to swell.
A B
Figs 5.27A and B: Paraphimosis. (A) Paraphimosis in a 3-year-old child. Note the tight constricting ring formed
by the trapped foreskin proximal to glans. (B) After manual reduction, oedema takes a few hours to subside
First complaints are swelling and discomfort in the glans. The skin below the corona becomes
red and sore and a tight constricting band is seen.
TREATMENT
Nonsurgical reduction—The penis is held proximal to foreskin by index and third finger of
each hand. Pressure is given on the glans by the thumb to push it back. It is like ‘turning a
sock inside out’.
Use of hyaluronidase—One ml of normal saline containing 150 turbidity unit of hyaluronidase
is injected in the lateral aspect of swollen ring of prepuce. Reduction is then tried after
fifteen minutes.
Circumcision—When other measures fail.
A B
Figs 5.28A and B: Labial adhesion: (A) A thin vertical raphe is seen in the midline (B) After separation
ETIOLOGY
The exact cause is not known but it is thought to be due to local inflammation of vagina in the
presence of hypoestrogenic state of a preadolescent child. This causes agglutination of inflamed
and injured vaginal epithelium.
It is usually seen between 3 months to 5 years of age.
This condition is asymptomatic and mostly discovered by parents. Sometime it is associated
with dribbling and urinary infection.
TREATMENT
If treatment is necessary or demanded, estrogen cream application is advised. The labia take 2-
8 weeks to separate. Once the labia separate, antibiotic ointment is applied till complete healing.
Parents should be aware that some girls, and even infants, will experience a small amount of
breast development during treatment.
SURGICAL CARE
If medical care does not result in separation of the labia minora, surgical lysis should be considered.
Depending upon the maturity of the child and the expectations of the parents, surgical separation
can be performed in a surgeon’s office or operation theatre.
A B
Figs 5.29A to C: (A) Hair tourniquet (B) Urethral fistula (C) The culprit
hair. Photograph courtsey: Dr Prof. Bhudwani (Bhopal)
PATHOGENESIS
Human hair is extremely thin and, therefore, easily overlooked, especially when there is a
foreign body reaction and local swelling. Hair has a tensile strength of greater than 29,000
pounds per square inch. It also stretches when wet, and contracts and tightens as it dries.
These characteristics make it an excellent agent for unintentional constriction. The constricting
hair may decrease lymphatic drainage from the appendage. The lymph edema so produced
impedes venous drainage, causing more edema and eventually prevents arterial flow to the
tissue. If left unrelieved obstruction will lead to necrosis and tissue loss.
DIAGNOSIS
It is always based on clinical examination which at times is difficult due to edema or the hair
being masked by the skin fold. Prompt removal of the hair by unwinding or cutting prevents
complications like urethral fistula or gangrene. When severity is unclear, it is safer to err on the
side of formal inspection in the operating room. If there is any doubt about the presence of a
retained hair, and incision should be made at the depressed area on one side of the latero-inferior
aspects of the penis. This will avoid injury to the urethra, the main nerves and to the blood
supply.
Pediatric Surgery 119
VESICOURETERAL REFLUX (VUR)44,45 (Fig. 5.30)
Vesicoureteral reflux (VUR) is the retrograde flow of urine from the bladder into the ureter.
Primary reflux is VUR in an otherwise normally functioning lower urinary tract, while secondary
reflux is VUR that is caused by an obstructed or poorly functioning lower urinary tract, such as
that observed with posterior urethral valves or a neurogenic bladder. In both conditions, the
ureterovesical junction (UVJ) fails to function as a one-way valve, giving lower urinary tract
bacteria access to the normally sterile upper tracts.
PATHOPHYSIOLOGY
The distal part of ureter resides in a submucosal tunnel before opening into the bladder lumen
via the ureteral orifice. If the length or obliquity of the submucosal tunnel or its muscular
backing is inadequate, the valve mechanism is incompetent, resulting in reflux. Primary reflux
is a congenital abnormality of the ureterovesical junction. Reflux can occur secondary to raised
intravesical pressure (bladder outlet obstruction or neuropathic bladder).
Ascending infection is the essential cause of reflux nephropathy. Scarring may result from
a single episode of pyelonephritis, especially in very young patients. Most scarring tends to
occur at the renal poles, where the anatomy of the renal papillae permits backflow of urine into
the collecting ducts (intrarenal reflux). This gives pathogenic bacteria access to the renal tubules.
The subsequent infection and inflammation results in tissue ischemia and fibrosis. This results
in hypertension, renal insufficiency, and renal failure.
INCIDENCE
The incidence of VUR is less than 1% in healthy children. Females are affected 5-6 times more
often than males. Children with UTIs have a much higher incidence of VUR (i.e., 70%). Today,
the incidence of prenatally diagnosed hydronephrosis caused by VUR ranges from 17 to 37% in
the pediatric population, and approximately 30 to 50% of children affected with VUR present
with pyelonephritic scars.
Fig. 5.30: Voiding cystourethrogram depicting Vesico-ureteric reflux. In a male baby with urethral valve
120 Spotters in Pediatrics
CLASSIFICATION
The International Reflux Grading system classifies VUR into 5 grades based on the voiding
cystogram:
Grade I: Urine backs up into the ureter only, and the renal pelvis appears healthy, with sharp
calyces.
Grade II: Urine backs up into the ureter, renal pelvis, and calyces. The renal pelvis appears
healthy and has sharp calyces.
Grade III: Urine backs up into the ureter and collecting system. The ureter and pelvis
appear mildly dilated, and the calyces are mildly blunted.
Grade IV: Urine backs up into the ureter and collecting system. The ureter and pelvis appear
moderately dilated, and the calyces are moderately blunted.
Grade V: Urine backs up into the ureter and collecting system. The pelvis severely dilates,
the ureter appears tortuous, and the calyces are severely blunted with loss of papillary
projections.
CLINICAL PRESENTATION
Most children with VUR present in 1 of 2 distinct groups. The first group presents with
hydronephrosis, often identified antenatally by ultrasound. The second group presents with
clinical UTI. Even for experienced pediatricians, the diagnosis of UTI in children can be difficult.
Infection in infants can manifest as failure to thrive, with or without fever. Other features
include vomiting, diarrhea, anorexia, and lethargy. Older children may report voiding symptoms
or abdominal pain.
MANAGEMENT
Once the UTI is established by a suprapubic urine culture an ultrasound is recommended as
first line investigation in the evaluation of VUR. The anatomy of the bladder and the dilatation of
the upper tract are principally evaluated. Once the episode of UTI is treated a voiding
cystourethrogram is recommended in younger children to demonstrate and grade the reflux. A
nuclear renal scan (DMSA or MAG3) is done to look for renal parenchymal scars.
Majority of the VURs are treated medically. This conservative approach relies on spontaneous
resolution of vesicoureteral reflux; there is an approximately 15% down gradation of reflux
every year. The patient is kept on chemoprophylaxis using cephalexin for children younger than
6 months and co-trimaxazol or nitrofurantoin for older children. Urine examination and imaging
is done periodically.
The indications for surgery are:
1. Unilateral gr. V or bilateral gr. IV reflux or above
2. Break through infections despite adequate chemoprophylaxis
3. Non- compliant patient
4. Fresh scars on nuclear scan
5. Correction of primary problem in secondary reflux
6. Circumcision for lower grade reflux (not established)
7. Subureteric injection of non-biodegradable material (e.g. deflux) (not established)
Pediatric Surgery 121
POSTERIOR URETHRAL VALVE (PUV) (Figs 5.31A and B)
PATHOLOGY
Posterior urethral valve is an abnormal congenital obstructing membrane located within the
posterior male urethra. It causes antenatal obstruction to the bladder outlet. The entire urinary
tract develops in an abnormal environment of high intraluminal pressure due to mechanical
obstruction. Permanent defects in the function of the kidney, ureters and bladder may result
from prenatal maldevelopment and do not resolve despite adequate decompression of the urinary
tract after birth. The renal insult may occur due to dysplasia, high pressure and infection.
Hydronephrosis occurs due to high backpressures, deficient development of ureteric musculature,
high urinary flow due to lack of concentrating ability of the nephron or abnormalities of the
vesicoureteral junction such as reflux or, rarely, ureterovesical obstruction. Vesicoureteral reflux
is present in one half of patients and may be secondary to high bladder pressure or due to an
abnormal ureteral orifice position caused by abnormal ureteral bud development during
embryogenesis.
Bladder dysfunction is thought to be secondary to alterations in collagen deposition and the
development of detrusor smooth muscle cells. These may not improve after adequate fulguration.
Several protective (pop-off) mechanisms may develop in boys with posterior urethral valve,
which may lower intraluminal pressures. These include massive unilateral vesicoureteral reflux
(usually associated with an ipsilateral dysplastic kidney known as vesicoureteral reflux and
dysplasia syndrome), bladder diverticula, and urinary ascites.
FREQUENCY
PUV is the most common cause of lower urinary tract obstruction in male neonates; reported
incidence is 1 per 8,000 to 1 per 25,000 live births.
EMBRYOLOGY
Embryologically, posterior urethral valves are thought to arise due to an abnormally anterior
insertion of the mesonephric (wolffian) duct on the cloaca prior to its division into urogenital
sinus and the anorectal canal. ASSOCIATED PROBLEMS: Due to bladder outlet obstruction
there may be associated oligohydramnios resulting in pulmonary hypoplasia and Potter’s facies.
PRESENTATION
The clinical presentation is extremely variable. Increasingly, posterior urethral valves are identified
on antenatal ultrasonography. Oligohydramnios, bilateral hydronephrosis, and incomplete
emptying of a thick-walled bladder may be seen. Severely affected newborns may exhibit
respiratory difficulties due to pulmonary hypoplasia.
A presentation in the neonatal period with abdominal distension due to dilated bladder, ureters,
and kidneys or due to urinary ascites is also recognized. If not recognized at birth, severely
affected boys often present with urosepsis, dehydration, electrolyte abnormalities, or failure to
122 Spotters in Pediatrics
thrive within weeks of birth. A poor urine stream may be noted. Toddlers often present with
voiding dysfunction or UTI, and school-aged boys usually come to attention because of urinary
incontinence.
PRENATAL MANAGEMENT
Prenatal intervention is limited to a few centers. Options include percutaneous placement of a
vesicoamniotic shunt, open fetal surgery, and fetal cystoscopic ablation. Significant complications
may occur, resulting in maternal or fetal morbidity as well as fetal loss. Pulmonary function has
been shown to benefit from the reversal of oligohydramnios, but no renal benefit has been
noted.
POSTNATAL MANAGEMENT
Postnatally, the baby is examined for respiratory distress and presence of bladder and renal
mass (unilateral or bilateral). An ultrasound is repeated to look for hydroureteronephrosis, bladder
wall thickness, dilatation of posterior urethra and presence of urinary ascites. In the absence of
urosepsis, renal failure or urinary ascites the baby can be taken for a voiding cystourethrogram
(VCUG), cystoscopy and valve fulguration, preferably in the same sitting. The VCUG shows a
dilated posterior urethra, which is suggestive of a PUV. It may also show an irregular walled,
small capacity bladder and vesicoureteral reflux. The valve is confirmed on cystourethroscopy
and fulgurated.
A B
Figs 5.31A and B: Posterior urethral valve: (A) Diagrammatic representation (B) cystourethrogram shows
dilatation of posterior urethra, small capacity irregular bladder and vesicourethral reflux
However, in very sick patients where there is presence of urosepsis, urinary ascites or renal
failure (defined as a serum creatinine > 1 mg%) the baby (or child) is kept on bladder drainage
(suprapubic or urethral) and intravenous antibiotics. If it improves on bladder drainage, VCUG
and valve fulguration is done. In about 15 percent cases no improvement occurs. These patients
are subjected to bilateral ureterostomies with plan for valve fulguration and urinary tract
reconstruction later.
Pediatric Surgery 123
PROGNOSIS
The prognosis is determined by a number of factors such as renal functions at the time of
presentation, improvement of renal functions on bladder drainage, presence and grade of
vesicoureteric reflux, intercurrent infections and adequacy of fulguration. It is important to
understand that the obstruction to the bladder outlet is a chronic one and occurs at a time when
the urinary tract musculature is undergoing developmental changes. Therefore, many irreversible
changes result in the bladder muscles that persist after an adequate fulguration. These have a
bearing on the final outcome and may require additional therapy (pharmacological or surgical)
to bring down the urinary tract pressure and provide complete drainage to the bladder.
FREQUENCY
Prevalence of classic bladder exstrophy is 3.3 per 100,000 births; male epispadias occurs in 1
in 117,000 births, female epispadias in 1 in 484,000 births, and cloacal exstrophy in 1 in 200,000-
400,000 births.
PATHOLOGY
Abdomen: Classic bladder exstrophy: The bladder is open on the lower abdomen, with mucosa
fully exposed through a triangular fascial defect. Urine can be seen dribbling from the ureteric
orifices, which can be identified on close examination. The distance between the umbilicus and
anus is foreshortened. Rectus muscles diverge distally, attaching to the widely separated pubic
bones. Indirect inguinal hernias are frequent (>80 percent of males, >10% of females) due to
wide inguinal rings and the lack of an oblique inguinal canal.
GENITALIA
Classic bladder exstrophy and Epispadias (male): The phallus is short and broad with upward
curvature (dorsal chordee). The glans lies open and flat like a spade, and the dorsal component
of the foreskin is absent. The urethral plate extends the length of the phallus without a roof. The
bladder plate and urethral plate are in continuity. The anus is anteriorly displaced.
MUSCULOSKELETAL
Musculoskeletal abnormalities occur mostly in classic bladder exstrophy and more severe variants.
The pubic symphysis is widely separated. Divergent rectus muscles remain attached to the
pubis. External rotation of the innominate bones results in a waddling gait in ambulatory patients
but does not appear to result in orthopedic problems later in life.
EMBRYOLOGY
Failure of mesenchyme to migrate between the ectodermal and endodermal layers of the lower
abdominal wall leads to instability and rupture of the cloacal membrane leading to this complex
of infraumbilical anomalies.
PRENATAL ULTRASONOGRAPHY
Antenatal ultrasound findings suggestive of exstrophy-epispadias complex include repeated
failure to visualize the bladder, low-set umbilical cord, lower abdominal wall mass and abnormal
genitalia.
POSTNATAL MANAGEMENT
Patients typically appear as term infants. One should look for associate spinal and cardiovascular
anomalies that may be associated with more complex variant, i.e. cloacal exstrophy. Baseline
ultrasound examination of the kidneys is recommended for all patients with exstrophy. A clean
plastic wrap should be placed over the bladder plate. Moistened or impregnated gauze should be
avoided, as it is irritating to the delicate bladder mucosa. Antibiotic therapy should be started
after delivery and continued through the early postoperative period.
Though still evolving, operative management is the accepted treatment of bladder exstrophy.
Left untreated, the continuous smell of urine makes such patients socially unacceptable. Also
there is a risk of malignant transformation of the bladder mucosa.
Reconstruction of exstrophy-epispadias complex remains one of the greatest challenges
facing the pediatric urologist. Many modifications in surgical procedures have improved the
outcome for these patients, but the goal to make the child grow into a dry, fertile and happy
adult is yet to be fulfilled. Surgical technique classically comprises of staged functional closure
for classic bladder exstrophy. Initial bladder closure is completed within 72 hours of birth. If
delayed, pelvic osteotomies are required to close the abdominal wall. Epispadias repair with
urethroplasty at age 12-18 months allows enough increase in bladder outlet resistance to improve
the bladder capacity. Bladder neck reconstruction at age 4 years allows continence and correction
of vesicoureteral reflux.
Pediatric Surgery 125
Recently single stage complete primary repair is being tried with some success. Urinary
diversion may be required for some cases.
PROGNOSIS
Evidence indicates that many exstrophic bladders do not function normally after reconstruction
and may deteriorate over time. Some studies have reported continence rates of 75 to 90 percent
after staged reconstruction in classic exstrophy, but more than one continence procedure are
usually required (e.g., bladder neck reconstruction, bladder augmentation, bladder neck sling,
artificial urinary sphincter). Many of these patients require life long clean intermittent
catheterization (CIC) through the urethra or a continent stoma because they are unable to void
spontaneously to completion.
VARIANTS
Among the variants of the above-described classic bladder exstrophy are continent and incontinent
hypospadias, pubovesical cleft and covered exstrophy.
A severe variant of bladder exstrophy is cloacal exstrophy that occurs in 1 in 200,000-
400,000 births. Patients are often preterm. Nearly all patients have an associated omphalocele.
The bladder is open and separated into 2 halves, flanking the exposed interior of the cecum.
Terminal ileum may prolapse as a “trunk” of bowel onto the cecal plate. The anus is absent. The
phallus is generally quite small and bifid. Often the testis may not be palpable and gender
assignment becomes difficult. As many as 95 percent of patients have myelodysplasia. This is
a far more complex condition to treat. Result of surgery remains poor.
A B
Figs 5.33A and B: (A) Cloacal exstrophy with limb anomalies (B) Meningocele in the same patient
PATHOLOGY
The head and neck are the most frequent (35-40%) sites of origin, followed by the genitourinary
tract, extremities, trunk, retroperitoneum, and uncommon regions (e.g., intrathoracic, GI tract,
perianal and anal regions). Although the tumor is believed to arise from primitive muscle cells,
tumors can occur anywhere in the body except bone.
Rhabdomyosarcoma is divided into 5 major histologic categories: embryonal, alveolar, botryoid
embryonal, spindle cell embryonal, and anaplastic. Embryonal rhabdomyosarcoma is the most
common subtype observed in children, accounting for approximately 60 percent of all cases in
this age group.
STAGING
The TNM staging system uses a preoperative evaluation to stage the tumour:
Stage I—tumors involving the area near the eye, the head, neck, and genitourinary tract
(except the prostate and bladder). The tumor is localized, meaning that the tumor has not
spread to other areas of the body.
Stage II—small, localized tumors less than 5 cm in any site not in stage I. There are no
tumor cells in the surrounding lymph nodes.
Stage III—localized tumor at any site not included in stage I that is larger than 5 cm and/or
has spread to surrounding lymph nodes.
Stage IV—disease that has spread to other areas of the body at the time of diagnosis.
PATHOGENESIS
Rhabdomyosarcomas usually have some type of chromosomal abnormality in the cells of the
tumor, which are responsible for the tumor formation. The cause of these chromosomal
abnormalities is unknown.
PRESENTATION
RMS usually manifests as an expanding mass; symptoms depend on the location of the tumor.
Pain may be present. If metastatic disease is present, symptoms of bone pain, respiratory
difficulty (secondary to lung nodules or to pleural effusion), anemia, thrombocytopenia, and
neutropenia may be present. Disseminated rhabdomyoblasts in the bone marrow may mimic
leukemia.
Typical presentations by the location of nonmetastatic disease are as follows:
Orbit—Proptosis or dysconjugate gaze
Paratesticular—Painless scrotal mass
Prostate—Bladder or bowel difficulties
Vagina—Protruding polypoid mass (botryoid, meaning a grapelike cluster)
Extremity—Painless mass
Parameningeal (ear, mastoid, nasal cavity, paranasal sinuses, infratemporal fossa,
pterygopalatine fossa)—Upper respiratory symptoms or pain.
Pediatric Surgery 127
A B
Figs 5.34A and B: (A) Rhabdomyosarcoma of the tongue. (B) after treatment
Photograph courtsey: Dr. Prof Bhudwani (Bhopal)
DIAGNOSIS
The initial diagnostic workup must address two basic issues. The nature of the primary disease
is determined by a surgical biopsy and extent by either CT or MRI. Next, the clinician must
evaluate the patient for locoregional or metastatic disease. This evaluation is accomplished by
performing a battery of adjunctive studies, including bone marrow biopsy, chest CT, and bone
scanning.
TREATMENT
Treatment in patients with RMS involves a combination of surgery, chemotherapy, and radiation
therapy.
PROGNOSTIC FACTORS
1. The site of origin: Head and neck rhabdomyosarcoma affecting the orbit and nonparameningeal
area have a prognosis more favorable than that of patients with tumors in other sites in the
body.
2. Tumor burden: Individuals with tumors smaller than 5 cm have a better prognosis when
compared with those with larger tumors.
3. Regional and distant metastasis: Regional nodal involvement is a poor prognostic marker.
4. Age: Patients who are younger than 10 years have a better prognosis compared to older
children. But infants tend to have a poorer prognosis again as they tolerate chemotherapy
poorly.
5. Histology: The embryonal histology has a better survival than other types and the alveolar
variety has the worst prognosis.
6. Residual disease: Patients without residual disease have a 90 percent 5-year survival rate. In
patients with microscopic residual disease, survival decreases to 80 percent, and those with
gross disease after surgery have a 5-year survival rate of 70 percent.
7. Biologic factors: Patients whose tumor cells have a DNA content 1.5 times higher than
normal (hyperdiploid) have a better outcome than those with normal (diploid) or twice
normal (tetraploid) DNA content.
128 Spotters in Pediatrics
PROGNOSIS
In patients with localized disease, overall 5-year survival rates have improved to >80 percent
with the combined use of surgery, radiation therapy, and chemotherapy. However, in patients
with metastatic disease, little progress has been made in survival rates, with a 5-year event-free
survival rate <30 percent.
INCIDENCE
Conjoint twins occur in the frequency of 1 in 50000 live births being more common in South
Africa and Asia. Most conjoint twins who survive long enough to become candidates for separation
are females, but if stillborns are included, there is a male predominance. Parasitic or heterotopic
twins are exceedingly rare, occurring in 1 per million live births.
EMBRYOLOGY
Zimmerman suggested that conjoint twins results when the inner cell mass incompletely divides
after the first seven days of when monozygotic twinning is supposed to occur (between 13 and
16 days after fertilization). This is associated with inhibition of complete differentiation of
various organ systems.
CLASSIFICATION
The classification is based on the most prominent site of connection that is added to the term
“pagus” (that which is fixed).
ANTENATAL DIAGNOSIS
The antenatal diagnosis of conjoined twins can be made with ultrasonography (US) as early as
12 weeks gestation and is important for optimal obstetric management. More accurate evaluation
of visceral conjunction is possible from 20 weeks gestation and should include fetal
echocardiography. The degree of cardiac fusion and the severity of associated cardiac anomalies
Pediatric Surgery 129
determine the postnatal viability of the twins and the likelihood of successful separation. Conjoined
hearts are easier to examine in utero because the amniotic fluid acts as a buffer during US. After
birth, the lungs inflate with air and thoracic fusion prevents optimal access. Other US features
that suggest the antenatal diagnosis of conjoined twins include constant relative positions of the
fetuses over time, with heads and other body parts persistently at the same level; inseparable
body and skin contours; fetuses facing each other with hyperflexion of the cervical spines;
fewer limbs than expected; shared organs; and a single umbilical cord with more than three
vessels.
Antenatal MR imaging has been of limited clinical value owing to poor image quality before
ultrafast scanning techniques were developed. Ultrafast MR imaging provides excellent contrast
with cerebrospinal fluid between the brain and spinal cord. Compared to ultrasonography,
ultrafast MRI facilitates more precise visualization of antenatal brain characterization and spinal
cord anomalies.
MANAGEMENT
Accurate antenatal assessment allows the parents to be counseled in depth as to the likely
outcome of the pregnancy and the chances of postnatal separation and survival. Most conjoined
twins are delivered at 36 to 38 weeks gestation by elective cesarean section, often at centers
where appropriate obstetric and pediatric surgical facilities are readily available. The postnatal
management of conjoined twins is determined by the effect of shared viscera on stability and
long-term viability. Therapeutic options include nonsurgical management, emergency separation,
or planned separation.
Twins in whom the prognosis is poor for both infants because of complex cardiac connections
or other life-shortening anomalies are treated conservatively with supportive measures and no
attempt at surgical separation. The indications for emergency surgery include the following:
one twin is stillborn or has anomalies incompatible with survival; damage to the connecting
bridge; ruptured omphalocele or other life-threatening event; and congenital anomalies that are
surgically correctable but would be fatal if not treated. Here one twin may have to be sacrificed
to save the other.
130 Spotters in Pediatrics
The ideal is elective surgery at 6 to 12 months of age to allow time for growth, tissue
expansion, and accurate imaging demonstration of the anatomic union and associated anomalies
to aid surgical planning. The goal of separation is the survival of one or both twins with a
reasonable quality of life.
The surgical procedure performed depends on the site and complexity of the conjunction
and the types of organs shared. The surgical separation is developed on an individual basis and
requires precision planning and a multidisciplinary approach. During the preoperative assessment
period, the surgeons hold regular, detailed, multidisciplinary meetings in which imaging plays a
vital role, and the findings determine whether the specialist pediatric surgeons require assistance
from experts in cardiothoracic, orthopedic, or urologic surgery. The meetings also involve
anesthetists, intensive care and surgical theater nurses, therapists, surgical theater staff, and
management and public relations personnel. During the preoperative planning, two separate
surgical teams are established, each with responsibility for one of the twins; an experienced
general pediatric surgeon usually takes charge of overall coordination.
Accurate determination of anatomy and vascular supply is important in planning the separation
of the twins. Evaluation of vascular shunts and cross-circulation is important for anesthetic
management and to allow ligation and separation of these vessels early during surgery to prevent
hypovolemic shock from loss of blood volume through these shared vessels. Once all organ
systems have been evaluated and vascular territories have been established, the multidisciplinary
team reviews the information to plan separation. Decisions are made about how organs will be
distributed between the twins, the order of organ separation, anesthesia, monitoring of vital
signs, and wound closure, including plans for preoperative tissue expansion and postoperative
care. Use of diagrams, three-dimensional organ models, and complete rehearsals of the separation
procedure is done to ensure that each member of the team is familiar with his or her role and the
overall plan of the surgery so that the actual operation proceeds as smoothly as possible.
PROGNOSIS
The outcome of surgery and the long-term survival of separated twins depend on numerous
factors. Results depend on the site and complexity of the conjunction, the extent of shared
organs, and the severity of associated anomalies, as well as the general medical condition of the
twins at the time of separation. There is a higher mortality rate for twins separated in the
neonatal period. The outcome is better in twins who do not share vital organs such as the heart
or brain, and the best results are reported for omphalopagus twins and pygopagus twins without
neural involvement. After separation, there are often large areas devoid of skin; despite use of
preoperative tissue expansion, primary wound closure is not always possible, increasing the
risk of postoperative sepsis in these individuals. The success of surgery in ischiopagus twins
depends largely on the extent of union. Separation and reconstruction of the bony pelvis,
urogenital tract, and lower gastrointestinal tract is associated with significant morbidity, especially
as many of these twins will have only one leg. In craniopagus twins, sharing of neural tissue
often precludes surgery; in other cases, success depends on the extent of shared dural venous
sinuses, as division and reconstruction of these are difficult with a high risk of hemorrhage.
Pediatric Surgery 131
PARASITIC TWINNING (Figs 5.36A, B and 5.37A to C)
A parasitic twin is the result of a situation related to the process that results in teratomas,
vanishing twin, and conjoined twins; two unique embryos begin developing in utero—except
one of the twins stopped developing during gestation and is now vestigial to a healthy, otherwise
mostly fully-formed individual twin. Fetus in fetu describes an extremely rare abnormality that
involves a fetus getting trapped inside of its twin. It continues to survive as a parasite even past
birth by forming an umbilical cord-like structure that leeches its twin’s blood supply until it
grows so large that it starts to harm the host, at which point intervention is required. Invariably
the parasitic fetus is anencephalic and lacks internal organs, though it may have limbs, digits,
hair, nails and teeth. Fetus in fetu is such a rare condition that only some 91 cases worldwide
have ever been reported. Usually, both twins die before birth. Sometimes, however, the host
twin survives and is delivered.
A B
Figs 5.36A and B: Conjoint twins. (A) Conjoint twins Ischiopagus tetrapus (B) Conjoint twins parasitic
B C
Figs 5.37A to C: Postoperative photographs (A) The child (B) The removed parasitic part
(C) The patient at 12 years of age. Photograph courtsey: Dr. Vinay Gupta (Bilaspur)
132 Spotters in Pediatrics
Craniopagus parasiticus is a condition in which a parasitic twin head is attached to the head
of a developed twin. This kind of parasitic twinning is inseparable. An example is the “Two-
Headed Boy of Bengal,” who was born in 1783 and died of a cobra bite in 1787. His skull
remains in the collection of the Hunterian Museum of the Royal College of Surgeons of London.
PREDISPOSING CONDITIONS
Malnutrition: seen in nearly 60% cases with 25% severely malnourished.
Immunity: Both humoral and cell mediated immunity are affected. CMI change is more pronounced
Viral infection e.g. measles and chicken pox predispose to ET. Best regards,
Pustules have been seen to precede the development of ET.
Seasonal variations: The studies reported from India have shown a seasonal predilection where
ET is seen more commonly in summer than in winter. The most common causative organism
also seems to vary – Staphylococcus aureus (the commonest organism reported from India) in
summers and staphylococcal pneumoniae (the commonest organism reported in western
literature) in winters.
CAUSATIVE ORGANISMS
The commonest organism seen in the tropical countries is staphylococcus aureus. Other
organisms reported are S. pneumoniae, Klebsiella aerogenes, S. faecalis and methicillin-resistant
Staph. aureus. The commonest organism reported in western studies is Streptococcus
pneumoniae. Frank tuberculous empyema is rare, occurring in only about 2 percent cases of
tuberculous pleurisy
PATHOPHYSIOLOGY
Para-pneumonic effusions that occur in first 48 to 72 hours are small, sterile polymorphonuclear
leucocytes (PMNS) predominant exudate with pleural fluid pH more than 7.30, glucose more
than 60 mg/dl and LDH less than 500 IU/L .
This is the exudative stage. The fibrinopurulent stage is marked by bacterial invasion and
lasts from 4 to 14 days. In this stage, there is fibrin deposition in pleura. This is marked by
septations, loculations and thickening of pleural fluid. After 14 days the pus organizes to form
an inelastic “peel” that restricts lung expansion and is impermeable to drugs. This is the
organizational stage and is seen most commonly with Staph aureus. An ET may get complicated
by bronchopleural fistula, parenchymal necrosis or empyema necessitates.
Pediatric Surgery 133
A B C
Figs 5.38A to C: Empyema thoracic (A) Five-year-old boy presented with pyrexia, breathlessness, cough.
Examination revealed bulging of left hemithorax, reduced breath sound and stoney dull note on percussion
overleft hemithorax. (B) X-ray chest revealed opaque left hemithorax with shifting of trachea to right side (C)
Intercostal chest drainage ICD with wide bore chest tube
PRESENTATION
ET can have a pneumonia like presentation where there is high fever, cough, breathlessness and
abdominal and chest pain. Any pneumonia that is not responding to 48 hours of parenteral
antibiotic therapy should be suspected to be having ET.
Another presentation is like that of a space-occupying lesion hampering normal respiratory
movement and causing bulging of the hemithorax. On examination there is decreased movement
and air entry, dullness on percussion, mediastinal shift and later scoliosis.
INVESTIGATIONS
1. Chest radiograph - erect (PA or AP): The earliest evidence is the obliteration of the
costophrenic angle. Later the meniscus sign develops and with further increase in fluid,
there is mediastinal shift and finally the entire hemithorax may be white – out. As pleural
thickening ensues, scoliosis appears with concavity towards the affected hemithorax. A
lateral chest radiograph not required routinely.
2. Ultrasonography: USG has emerged as an extremely useful tool to diagnose small amounts
of pleural effusion and to guide further interventions. It gives information regarding the size
and thickness of the effusion as well demonstrates pleural thickening. It can be used as a
guide to thoracocentesis and drainage.
3. CAT scan: is done only if a surgery (apart from intercostals drainage) is contemplated.
4. Pleural fluid examination: Should be done to do a gram staining and culture and sensitivity.
Routinely, biochemical examination is not required.
MANAGEMENT
1. Antimicrobial therapy: Empirically the patient is started on intravenous cloxacillin (50 mg/
kg/dose, Q6H) along with an aminoglycoside and benzyl penicillin (1 Lac units/kg/dose,
Q6H). The further treatment depends on the sensitivity pattern and clinical response. The
134 Spotters in Pediatrics
IV antibiotics are continued till the fever subsides, respiratory distress improves and the
pleural drainage becomes non-purulent.
2. Intercostal Chest drainage (ICD): A wide bore chest tube should be inserted to drain the
fluid. Thoracocentesis (needle aspiration) has no therapeutic role in managing empyema. At
times, more than one ICD needs to be done because of loculations or BPF.
3. Surgery: Decortication is the most popular mode of surgery that is done throughout the
world. It is supposed to give an opportunity for the lung to expand, to do pleural toilet and
to tackle BPF. Another mode of surgery is Video Assisted Thoracoscopic Surgery (VATS).
While it is applicable for the fibrinopurulent stage, its exact status in the management of ET
is yet to be defined.
4. Fibrinolytic agents (urokinase, streptokinase): Though studied more extensively, the cost
factor and inability to use them with hypersensitive patients and BPF has limited their use.
REFERENCES
1. Rattan KN, Sharma A. Achalasia cardia. Indian J Pediatr 2000; 67(2): 157-58.
2. Wakhlu AK, Pathak VB, Tandon RK, et al. Achalasia cardia in an infant. Indian Pediatrics 1987; 24(11):
1050-51.
3. Teitelbaum DH et al : Hirschsprung’s disease and related neuromuscular disorder of the intestine. In:
O’Neill JA Jr., Rowe MI et al eds. Pediatric Surgery. 5th ed. Mosby 1998; 1381-1424.
4. Emir H, Akman M, Sarimurat N, et al: Anorectal manometry during the neonatal period: its specificity in
the diagnosis of Hirschsprung’s disease. Eur J Pediatr Surg 1999; 9(2):101-3.
5. Yanchar NL, Soucy P: Long-term outcome after Hirschsprung’s disease: patients’ perspectives. J Pediatr
Surg 1999; 34(7): 1152-60.
6. Neill and Rowe: Pediatric Surgery 5th edition; 1998: Mosby.
7. Wakhlu A, Wakhlu AK: The management of exomphalos. J Pediatr Surg 2000; 35(1):73-6.
8. Pediatr Surg Int. Use of a plastic hemoderivative bag in the treatment of gastroschisis. Miranda ME, Tatsuo
ES, Guimaraes JT, Paixao RM, Lanna JC 1999; 15(5-6): 442-4.
9. Routine Cesarean Delivery Does Not Improve the Outcome of Infants With Gastroschisis. Obstetrical and
Gynecological Survey. Puligandla et al 2004; 59(10):699-701.
10. Ben-Chaim J, Jeffs RD, Reiner WG, Gearhart JP: The outcome of patients with classic bladder exstrophy
in adult life. J Urol 1996; 155(4): 1251-2.
11. Connor JP, Lattimer JK, Hensle TW, Burbige KA: Primary closure of bladder exstrophy: long-term
functional results in 137 patients. J Pediatr Surg 1988; 23(12): 1102-6.
12. Diamond DA, Bauer SB, Dinlenc C, et al: Normal urodynamics in patients with bladder exstrophy: are
they achievable? J Urol 1999; 162(3 Pt 1): 841-4; discussion 844-5.
13. Gearhart JP, Jeffs RD: Exstrophy-epispadias complex and bladder anomalies. In: Campbell MF, Retik AB,
Vaughan ED, Walsh PC, eds. Campbell’s Urology. 7th ed. Philadelphia, Pa: W.B. Saunders; 1998; 1939-90.
14. Kelly JH: Exstrophy and epispadias: Kelly’s method of repair. In: O’Neill JA Jr., Rowe MI et al eds.
Pediatric Surgery. 5th ed. Mosby 1998; 1732-59.
15. Mathews RI, Perlman E, Marsh DW, Gearhart JP: Gonadal morphology in cloacal exstrophy: implications
in gender assignment. BJU Int 1999; 84(1):99-100.
16. Stolar CJH, Dillon PW : Congenital Diaphragmatic Hernia and Eventratioon. In: O’Neill JA Jr, Rowe MI
et al eds. Pediatric Surgery. 5th ed. Mosby 1998; 819-37.
17. Adzick NS, Harrison MR, Glick PL, et al: Diaphragmatic hernia in the fetus: prenatal diagnosis and
outcome in 94 cases. J Pediatr Surg 1985; 20(4): 357-61.
18. Lotze A, Knight GR, Anderson KD: Surfactant (beractant) therapy for infants with congenital diaphragmatic
hernia on ECMO: evidence of persistent surfactant deficiency. J Pediatr Surg 1994; 29(3): 407-12.
Pediatric Surgery 135
19. Al-Salem AH, Khwaja S, Grant C, Dawodu A: Congenital intrinsic duodenal obstruction: problems in the
diagnosis and management. J Pediatr Surg 1989; 24(12):1247-9.
20. Britton JR, Britton HL: Gastric aspirate volume at birth as an indicator of congenital intestinal obstruction.
Acta Paediatr 1995; 84(8): 945-6.
21. Stauffer UG, Schwoebel M : Duodenal atresia and stenosis-annular pancreas. In: O’Neill JA Jr., Rowe MI
et al eds. Pediatric Surgery. 5th ed. Mosby 1998; 1133-1143.
22. Imaji R, Dewan PA: The clinical and radiological findings in boys with endoscopically severe congenital
posterior urethral obstruction. BJU Int 2001; 88(3): 263-7.
23. Parag P, Sen S, Chacko J, Zachariah N, Thomas G, Mammen KE. Bilateral high loop ureterostomy in the
primary management of posterior urethral valves in a developing country. Pediatr Surg Int. 2001; 17(2-
3):157-9.
24. Tanagho EA: Urinary obstruction and stasis. In: Tanagho EA, McAninch JW eds. General urology 14th ed.
Appleton and Lange, Norwalk, 177-85.
25. Pena A: Management of anorectal malformations during the newborn period. World J Surg 1993; 17(3):
385-92.
26. deVries PA, Pena A: Posterior sagittal anorectoplasty. J Pediatr Surg 1982; 17(5): 638-43.
27. Shaul DB, Harrison EA: Classification of anorectal malformations—initial approach, diagnostic tests, and
colostomy. Semin Pediatr Surg 1997; 6(4): 187-95.
28. Bangroo AK, Chauhan Smita. Hair tourniquet syndrome. Journal of Indian Association of Pediatric Surgeons.
2005; 10(1): 55-56.
29. R Scott Strahlman. Toe Tourniquet Syndrome in Association With Maternal Hair Loss. PEDIATRICS
2003;111(3): 685-87.
30. Flamant F, Rodary C, Rey A, et al: Treatment of non-metastatic rhabdomyosarcomas in childhood and
adolescence. Results of the second study of the International Society of Paediatric Oncology: MMT84.
Eur J Cancer 1998; 34(7): 1050-62.
31. Pappo AS, Shapiro DN, Crist WM, Maurer HM: Biology and therapy of pediatric rhabdomyosarcoma. J
Clin Oncol 1995; 13(8): 2123-39.
32. Mazzoleni S, Bisogno G, Garaventa A, et al: Outcomes and prognostic factors after recurrence in children
and adolescents with her nonmetastatic rhabdomyosarcoma. Cancer 2005; 104(1):183-90.
33. James A, O’Neill. Conjoined Twins. Pediatric Surgery, V edn. Ed. O’Neill et al. Mosby 1998; 1925-38.
34. Kharat A, Karamchandani A, Singh A, Shetty SS. Antenatal ultrasound appearance of dithoracic paraphagus
conjoint twins. Ind J Radiol Imag 2004; 14:2:159-60.
35. Catherine A. Kingston, Kieran McHugh, Jeevan Kumaradevan, Edward M. Kiely, Lewis Spitz. Imaging in
the Preoperative Assessment of Conjoined Twins. Radiographics 2001; 21:1187-1208.
36. Ayhan Özkur, Mehmet Karaca, Ahmet Göçmen, Metin Bayram. Cephalopagus conjoined twins presented
with encephalocele: diagnostic role of ultrafast MR imaging Diagnostic and Interventional Radiology. 2006;
12(2):090-092.
37. Bumsted RM: Cleft lip and palate, in Cummings CJ, et al, eds. Otolaryngology-Head and Neck Surgery, St.
Louis, Mosby and Co., 1986; 1129-67.
38. Bagatin M: Submucous cleft palate. J Maxillofac Surg 1985; 3:37-38.
39. Mandell DL: Head and neck anomalies related to the branchial apparatus. Otolaryngol Clin North Am
2000;33(6): 1309-32.
40. Currie AR, King WW, Vlantis AC, Li AK: Pitfalls in the management of preauricular sinuses. Br J Surg
1996;83(12):1722-4.
41. Farrugia MK, Morgan AS, McHugh K, Kiely EM: Neonatal gastrointestinal perforation. Archives of
Disease in Childhood Fetal and Neonatal Edition 2003;88:F75.
42. Shah RS, Patel MP, Pikale HS, Kulkarni BK, Borwankar SS: Benign neonatal pneumoperitoneum—an
enigma. J Postgrad Med [serial online] 1992.
43. Frank JD, Brown S: Thermometers and rectal perforations in the neonate. Arch Dis Child 1978;53:824.
136 Spotters in Pediatrics
44. Academy of Pediatrics. Committee on Quality Improvement. Subcommittee on UTI: Practice parameter:
the diagnosis, treatment, and evaluation of the initial urinary tract infection in febrile infants and young
children. Pediatrics 1999 Apr;103(4 Pt 1):843-52.
45. Horowitz M, Glassberg KI: Vesicoureteral reflux. In: O’Donnell B, Koff SA. eds. Pediatric Urology 3rd ed.
Butterworth-Heinemann: 1997.
46. Baranwal AK, Singh M, Marwaha RK, Kumar L. Empyema thoracis: A 10-year comparative review of
hospitalised children from south Asia. Archives of Disease in Childhood 2003;88:1009-14.
47. Mishra OP, Varshney K, Usha, Ali Z, Nath G, Pathak VK, Das BK. Immune Status with Empyema
Thoracis. Indian J Pediatr 2004;71:301-05.
48. Hardie WD, et al. Complicated Parapneumonic Effusions in Children Caused by Penicillin-Nonsusceptible
Streptococcus pneumoniae PEDIATRICS 1998;101(3):388-92.
49. Davies CWH, Gleeson FV, Davies RJO. BTS guidelines for the management of pleural infection Thorax
2003;58:ii18.
Chapter
6 Bone Disorders
DEFINITION
Rickets, derived from the old English word ‘wrickkens’, meaning to twist. Rickets is a disease
of growing bones especially its cartilaginous epiphyseal growth plate. It is only seen in children.
Undermineralization in adulthood leads to osteomalacia.
CAUSES
The classical rickets is due to vitamin D deficiency; associated with lack of sunshine, skin
pigmentation or poor diet.
Secondary rickets may occur in:
Chronic liver disease when there is impairment of 25 hydroxylation of vitamin D.
Chronic renal diseases, when the 1- hydroxylation of 25(OH) D to 1.25(OH) is defective.
During recovery from malabsorption.
Anticonvulsant drugs especially phenytoin. They degrade vitamin D to less active metabolites.
Vitamin D resistant rickets (Familial hypophosphatemic rickets). It is an X-linked dominant
condition. There is defect in renal tubular transport of phosphate.
Renal tubular function disorders like RTA, Fanconi’s syndrome and cystinosis.
PATHOPHYSIOLOGY
The main antirachitic action of vitamin D is facilitation of intestinal absorption of calcium
and phosphorous and of reabsorption of phosphorous in the kidney and a direct effect on
mineral metabolism of bone.
138 Spotters in Pediatrics
CLINICAL FEATURES
Misery
Failure to thrive/short stature
Frontal bossing
Craniotabes (ping pong sensation)
Bowlegs most common
Prominent wrist (excessive accumulation of osteoid).
Marfan’s sign positive (impression of double malleolus).
Ricketic rosary and Harrisons sulcus, knock knee
Hypotonia and seizures.
A B C
Figs 6.1A to C: (A) Ricketic beading (enlargement of costochondral junction). (B) An infant 6-month old having
physiological bowing, it has to be differentiated from NR which exhibit Marfan’s sign over ankle. This patient has
normal serum alkaline phosphatase level. (C) Same child at age of four year. Note bowing disappeared
LABORATORY INVESTIGATION
Serum calcium is low normal (normal 8.0-10.5 mg/dl)
Serum phosphate is low (normal 3.8-6.0 mg/dl).
Serum alkaline phosphatase level is elevated (over 400IU/L). Normally, growing child has
high level of alkaline phosphatase.
Renal function test
X-ray of the wrist shows widening, cupping fraying, osteopenia. The most important finding
is the increased space between the epiphysis and the provisional zone of calcification. In
Bone Disorders 139
Fig. 6.2: X-ray wrist joint showing cupping Fig. 6.3: X-ray wrist joint after a week of
and fraying of distal radius and ulna. vitamin D dose. Preparatory zone of
The prominent wrist is due to excessive calcification is seen, an indirect evidence
accumulation of osteoid of healing nutritional rickets
severe cases additional deformities of the bones are seen, like bowing of legs seen in lower
limb, thoracic kyphosis with a ‘pigeon chest’, enlargement of anterior ribs causing ‘ricketic
rosary’ and bossing of skull.
TREATMENT
“Strosstherapy” (single large dose of vitamin D).- a total of 6 lakh IU of ergocalciferol or
cholecalciferol is given by mouth in six divided doses every 2 hours. This therapy helps to
differentiate NR from familial hypophosphatemic rickets (FHR). Patient with NR shows a
rise in serum PO4 in 4 to 7 days and radiographic evidence of healing of rickets in 7–10
days.
Calcium supplementation 500 mg to 1000 mg of elemental calcium given orally till serum
calcium normalizes
Maintenance doses of vitamin D (400) IU is started after 12 weeks.
Sign of recovery is assessed by serum alkaline phosphatase level and X-ray after one month.
The level should fall after a month but it takes several months for normalization.
A B
C D
Figs 6.4A to D: (A) A five-year-old boy, a case of spastic cerebral palsy presented with frank manifestation of
scurvy. With swollen knee joints and spongy gums. The examination revealed classical scorbutic beading over
costochondral junction. (B and C) The X-ray elbow, leg and knee joint revealed classical radiological changes.
Patient responded well will oral ascorbic acid. (D) A 1-year-old, male child came to Pediatric clinic with complaints
of anorexia and crying on being handled. The child’s bones were tender and he was reluctant to move his limbs.
He used to keep the limbs in frog like posture. The child also had evidence of gum bleeds. The X-ray of Knee joint
showed characteristic features of Scurvy. The child was treated with Ascorbic acid 300 mg per day and the
child responded in 6-7 days. (Courtesy: Dr Siddhartha Sethi, Dr Sumer Sethi, UCMS, Medical College, Delhi)
leads to defective dentine formation, hemorrhaging into the gums, and loss of teeth.
Hemorrhaging is a hallmark feature of scurvy and can occur in any organ. Hair follicles are
one of the common sites of cutaneous bleeding. Bone involvement is typical for infantile
scurvy. The bony changes occur at the junction between the end of the diaphysis and
growth cartilage. Osteoblasts fail to form osteoid (bone matrix), resulting in cessation of
endochondral bone formation.
Clinical manifestation:
• Scurvy can be seen at any age, majority between 6 and 24 month age, but quite rare in
newborn period.
• There is vague symptoms of irritability, tachypnea, digestive disturbance, and loss of
appetite. There is evidence of general tenderness; especially noticeable in the legs when
the infant is picked up or when the diaper is changed.
• The pain results in pseudoparalysis, and the leg assumes the typical frog like position, in
which the hips and knees are semiflexed with the feet rotated outward. In some cases
Bone Disorders 141
subperiosteal hemorrhage is palpable at lower end of femur. The child look very
apprehensive.
• There is bluish, purple swelling of mucous membrane over upper incisor.
• A rosary at the costochondral junction is seen and a depression at sternum may be
noticed.
• Other features includes Malena, orbital and subdural hemorrhage, delayed wound healing.
Radiological manifestation: The changes are noted in distal end of femur, tibia and fibula,
radius and ulna, humerus and sternal end of ribs. The imaging features seen are as follows.1
• Bone assumes a ground glass appearance with pencil thin cortex.
• Osteoporosis.
• Ring of increased density around epiphysis (Wimberger’s sign).
• End of long bones show increased density of provisional zone of calcification. (White
line of Frankel).
• Metaphyseal spurs or marginal fractures. (Pelkan spur).
• Transverse band of radiolucency in the metaphysis sub adjacent to the zone of proximal
calcification. (Trummerfeld zone) .
• These changes improve with treatment.
Differential diagnosis is considered out of causes of tenderness of limb and pseudoparalysis.
Treatment—Daily administration of 3-4 oz of orange juice or tomato juice quickly produces
healing. The daily therapeutic dose is 100–200 mg orally or parentally.
DEFINITION
Osteogenesis imperfecta is a heterogeneous group of collagen disorders characterized by
bone fragility, blue sclerae, and dentinogenesis imperfecta.
Incidence: The overall incidence is 1 in 28,500 live births. OI type II have incidence of 1 in
54,000 birth.
Etiology: OI is heterogeneous disorder of production, secretion, or function of collagen.
CLINICAL TYPES
OI Type I: It has autosomal inheritance pattern. Patients have blue sclera, increased bone
fragility and deafness. Infants have normal birth weight and do not have multiple fractures.
It is again divided into Type A and Type B depending on presence or absence of dentinogenesis
imperfecta.
OI Type II: It is lethal variety of OI. Infants are still born or die in the neonatal period.
Multiple fractures occur in utero. Long bones are shortened, broad and crumpled. Thorax is
short but not narrowed. Skull poorly ossified and blue sclera is present. This type is divided
142 Spotters in Pediatrics
A B C D
Figs 6.5A to E: Osteogenesis imperfecta. (A) Note the fracture segments obvious in both lower limbs. (B) X-ray
whole body of newborn depicting multiple fractures of both upper and lower limb. (C) X-ray of left upper arm at
the age of one month depicting fracture of humerus with callus formation. (D) X-ray of the same patient at the age
of one year depicting healed fracture with callus formation (E) A patient aged 12-year with blue sclera since birth
MANAGEMENT
There is no effective drug treatment.
Physiotherapy is important. Exercise should be encouraged because increased muscle mass
reduces the chances of fracture. Swimming is helpful for all cases.
Braces and splints are required in severe cases to aid ambulation. As soon as callous is
formed patient mobilization of patient is encouraged.
Surgery in the form of intramedullary rod fixation is used for lower limb fractures to straighten
the deformity and to reduce the recurrent fractures. In upper limb deformity is computable
with good function.
Deafness is frequently conductive and ossicular reconstruction and stapedectomy can help.
Hearing aid should also be considered.
Adequate dental care should be imparted for dentinogenesis imperfecta.
Genetic counseling is complicated and important and depends upon type of OI.
A B
C D E
Figs 6.6A to E: Congenital clubfoot. (A) Bilateral (B) Unilateral (C) Unilateral mild
(D) Unilateral severe. (E) Club hand left. Photographs courtesy: Dr Ramesh Bhatt, KMC, Manipal
144 Spotters in Pediatrics
DIGITAL ABNORMALITIES
Digital abnormalities consist of following abnormalities.
1. Polydactyly
2. Syndactyly
3. Symphalangism
4. Brachydactyly
5. Ectrodactyly.
These terms pertain to anatomical abnormalities rather than any specific disorder.
A B
Figs 6.7A and B: (A) Duplication of little finger postaxial polysyndactyly
(B) Postaxial polysyndactyly of both hands
Bone Disorders 145
Preaxial polydactyly: Unilateral extra thumb or hallux is usually nongenetic. But there are
several autosomal dominant forms of uncomplicated, bilateral, preaxial digital duplication.
Postaxial polydactyly: It is more common than preaxial one.
• The reasons of high prevalence are not known but it has been suggested that inheritance
is autosomal dominant, with variable expression.
• Postaxial polydactyly is a component of various lethal condition such as trisomy 13,
asphyxiating thoracic dystrophy, and Saldino Noonan syndrome. It is also a feature of
chondro-ectodermal dysplasia.
• It is also seen in Bardet-Biedle syndrome where it is associated with mental retardation,
retinitis pigmentosa, and hypogonadism. It is distinguished from Laurance-Moon
syndrome in which digits are normal.
B C
Figs 6.8A to C: (A) Preaxial polydactyl there is duplication of both great toes along with postaxial polysyndactyly
of both hands (B) Preaxial polydactyly of great toes (C) Syndactyly of third and fourth fingers
A B
Figs 6.9A and B: (A) Brachysyndactyly present over both feet. (B) Brachydactyly of both third toe
GENETICS
It may be sporadic or inherited as an autosomal dominant. Expression is very variable and
skipped generations are not uncommon. There is uncommon autosomal recessive form of
ectrodactyly.4
In view of existence of sporadic, dominant and recessive forms of the Lobster-Claw defect,
there is considerable heterogeneity; genetic counseling can be very difficult.5
A B C
Figs 6.10A to C: Split hand and feet. (A) (B) Autosomal dominant family with split hand and feet, note mother and
two kindred are the sufferer. (C) Sporadic split hand and feet, no family history of such defect in family
A B C
Figs 6.11A to C: Multiple cartilaginous exostosis. (A) Note cartilaginous outgrowth at lower and upper end of
tibia. (B) Cartilaginous growth at lower end of radius. (C) X-ray of knee joint AP and Lateral view. Note the
outgrowth from the lower end of femur and upper end of tibia
A B
Figs 6.12A and B: Greenstick fracture. (A) Note the deformity of upper limb.
(B) X-ray forearm depicting greenstick fracture of ulna
A B C D
Figs 6.13A to D: Congenital scoliosis- (A) (B) Note the gibbous in-3-year-old boy, note the convexity of the
lower thoracic spine to the right side along with hemivertebrae. (C) (D) Note the spinal deformity clinically and
its radiological correlate
Bone Disorders 149
Radiographic examination for scoliosis generally includes a standing posterior-anterior film
of the entire spine from the cervical level to the sacrum including both iliac crests, and a
lateral film of the same area of the spine.
Scoliosis is associated with congenital heart disease more with cyanotic heart disease than
with acynotic. In addition higher incidence of coarctation of aorta is also seen with scoliosis.
REFERENCES
1. Bhushan N Lashkar, Chandrakant M Shetty. Concise radiology for undergraduate, first edition, 2006;
Scurvy, 123.
2. Tuncbilek. E and Say, B. Polydactyly in turkey. In fifth international congress of human genetics 1976.
3. Yasuda M. Pathogenesis of preaxial polydactyly of the hand in human embryos. Journal of embryology
and experimental morphology, 1975;33(3):745.
4. Mackenzie HJ and Penrose LS. Two pedigree of ectrodactyly. Clinical Genetics, 1951;9:347.
5. Verma IC, Joseph R, Bhargawa S, Mehta S. Slit hand and foot deformity inherited as autosomal recessive
trait. Clinical Genetics 1976;9(1):8.
150 Spotters in Pediatrics
Chapter
7 Neurology
NEUROCUTANEOUS SYNDROME
Phakomatosis is a heterogenous group of disorder generally have neurological and cutaneous
manifestations. Most of them also have visceral and connective tissue abnormalities. Disorders
are autosomal dominant like Tuberous sclerosis, Neurofibromatosis and Hypomelanosis of Ito,
or spordic like Sturge-Weber syndrome, Neurocutaneous Melanosis and Parry-Romberg
syndrome.
NEUROFIBROMATOSIS
Neurofibromatosis is not a single entity, but it is a group of heterogenous diseases. Several
variants of neurofibromatosis has been proposed, to date National Institute of Health (NIH)
Consensus Development Conference has defined only two distinct type. Type I is known for
florid skin manifestations while type II is almost synonymous with bilateral acoustic neuroma.
A B C
D E
Figs 7.1A to E: Neurofibromatosis Type I. (A) Plexiform Neurofibromatosis involving trigeminal nerve (B) Plexiform
neurofibroma of left upper limb. (C) Cafe au lait patches on back. Neurofibromatosis Type I. (D) Skeletal deformity
in Neurofibromatosis (Angular scoliosis) (E) Subcutaneous nodules
152 Spotters in Pediatrics
DIAGNOSTIC CRITERIA
Two or more of the following:
Six or more cafe-au-lait spots.
1.5 cm or larger in postpubertal individual.
0. 5 cm or larger in prepubertal individual.
One plexiform neurofibroma or two or more neurofibroma of any type.
Two or more pigmented iris hamartoma (Lisch Nodule).
Axillary and inguinal freckling.
Optic nerve Glioma.
First degree relative with NF1.
Bony lesions, e.g. dysplasia of greater wing of sphenoid, pseudoarthrosis.
Many somatic manifestation of NF1 are age related, external stigmata may be subtle or
absent in very young children. Cutaneous lesions and tumor at all sites generally increase in size
and number with increasing age.
Learning disability, psychological disturbances, hydrocephalus with aqueductal stenosis,
hypertension secondary to renal artery stenosis and other vascular abnormalities like aneurysm
and moya-moya like features are discribed with NF1.
A B
Figs 7.2A and B: Neurofibromatosis Type II. (A) MRI image, bilateral acoustic neuroma.
(B) CT scan. bilateral acoustic neuroma
Neurology 153
DIAGNOSTIC CRITERIA
i. Bilateral 8th nerve masses.
ii. Parents sibling, or child with NF2 and either unilateral 8th nerve mass or any one of the
following:
• Neurofibroma
• Meningioma
• Glioma
• Schwannoma
• Posterior capsular cataract or opacity at young age
A B C
D E F
Figs 7.3A to F: Tuberous sclerosis. (A) (B) Adenoma Sebaceum. Tuberous sclerosis (C) Hypomelanotic
Macule. (D) Shagreen Patch. Tuberous sclerosis. (E) Subependymal Calcified Nodules. (F) Subependymal
Calcified Nodules
154 Spotters in Pediatrics
NEUROLOGICAL FEATURES
Mental retardation and epilepsy are cardinal symptoms. Infantile spasm may be the earliest
manifestation, EEG reveals classical hypsarrhythmia.
Psychiatric manifestation: Hunt and Dennis (1987) in series of 90 cases reported psychotic
behavior, hyperkinetic, aggressive mode and autistic feature in children affected with TS.
Raised ICT due to blockade of CSF flow by tuber. Rarely neoplastic transformation of long
standing benign nodule into an astrocytoma or glioblastoma.
Congenital brain tumor cortical tuber and subependymal nodules were found at autopsy in
an infant of 28 weeks. The antenatal diagnosis of TS has been made in two 33 weeks
fetuses in which MRI reveals multiple subependymal nodule and cortical tuber.
Fundus examination shows retinal phakomas, a raised, mushroom like lesion present near
the optic disc. They often develop very early. Lesions are usually asymptomatic.
CUTANEOUS MENIFESTATIONS
Adenoma sebaceum: It is a papular, acneiform rash over butterfly area of the face. It is
rarely detectable below 2 yr age. It was present in 53 percent of cases by age of 5 yr and in
100 percent by 35 yr in one series.
Amelanotic naevi: These are earliest skin manifestation, which are diagnostic and present
since birth. These are amelanocytic, pale ash leaf shaped, hypopigmented macule, varying
sizes 3-60 mm, seen over trunk and limbs histologically the naevi contains melanocyte but
there is no production of melanin, suggesting metabolic block.
Shagreens patch: irregular rough area of skin often seen over lumbar area.
Periungual fibroma: Fleshy out growth on finger and toes.
Poliosis (lock of pale hair), enamel pits.
VISCERAL ABNORMALITY
Renal: Polycystic kidneys, adenoma, fibroma, lipoma, angioma, teratoma.
Cardiac: Rhabdomyoma—It is reported that 80 percent of children with cardiac rhabdomyoma
will have TS.
IMAGING
CT scan and MRI will pick up most of the intracranial lesion. X-ray skull rarely shows
Intracranial calcification. Abdominal USG to pickup renal cyst and echocardiography to
locate rhabdomyoma, are other investigations required.
MANAGEMENT
The following evaluations are recommended in children.
• Renal ultrasonography every 1 to 3 years followed by renal CT/MRI if large or numerous
renal tumors are detected.
• Cranial CT/MRI every 1-3 year.
• Echo evaluation of heart to pickup rhabdomyoma of heart.
Neurology 155
Antiepileptic drugs are helpful in reducing the seizure frequency, but rarely provide complete
relief. The drug Vigabatrin has better spectrum to keep seizure under control in patient with
TS. Visual field defect is major side effect with this drug, which has to be monitored.
Genetic counseling is important in explaining the course and progression of the disease in
progenies.
INHERITANCE
It is usually sporadic, but dominant and recessive nature are also known and rare.
NEUROLOGICAL FEATURES
Convulsions usually begin in first year of life, often in newborn period, seldom later than
two years of age. Fits are abrupt and of catastrophic nature, Initially fits are partial contralateral
to nevus later become generalized and often lead to status epilepticus.
Mental retardation and hemiplegia worsens with each bout of seizure.
CUTANEOUS FEATURES
Nevus is always congenital. Affects the upper
part of face, its distribution corresponds to first
and second division of trigeminal nerve. Nevus
is mostly unilateral and flat-red in appearance,
known as portwine stain.
Facial nevus may be present without features of
SWS. On the other hand, rare cases are reported
with typical radiological and neurological features
of the syndrome but without nevus called as
“SWS sine nevus”. Fig. 7.4: Sturge-Weber syndrome
facial nevus (portwine stain)
OPHTHALMOLOGICAL FEATURES
Raised intraocular tension is found in one third of SWS with buphthaloms.
Episcleral hemangioma was found in all patient with SWS with glaucoma.
Homonymous hemianopic field defect are known.
Rarely retinitis pigmentosa is also reported with SWS.
IMAGING
X-ray of skull reveals pathognomic feature of intracranial calcification with double contour,
like a railway line.
156 Spotters in Pediatrics
CT scan will reveal occipitoparietal calcification. Calcification is usually on the outer part of
cortex. It is unilateral on the side of the nevus. Rare cases have been reported with bilateral
calcification some time with bilateral nevus. Atrophy of affected hemisphere often developed.
Microcephaly has been reported in some cases.
MRI ranks superior to CT because it detect white matter changes and extent of the lobar
involvement with degree of cortical atrophy. PET scans are used for better functional imaging.
Carotid arteriography reveals slowing of circulation in angiomatous vessel.
MANAGEMENT
Multiple antiepileptic drugs are usually required to control seizure.
Surgical: The hemispherectomy has been tried in selected cases with refractory seizures.
Hoffman’s reviewed the result of hemispherectomy in seven children, 6 of them under
11 month of age followed up for 1-13 yrs. 4 had excellent results, two were rendered
hemiparetic and one died of recurrent hemorrhage.
Flash lamp pulsed laser therapy gives good cosmetic result in portwine stain. Pulsed dye
laser now seems good in children for the management for raised intraocular tension and
buphthalmos.
NEUROLOGICAL FEATURES
Ataxia becomes evident in early childhood and
progress till the age of 10 to 12 years. Occulomotor
apraxia, hypotonia, diminished reflexes, generalized
muscular weakness become obvious late.
OPHTHALMOLOGICAL FEATURES
Conjuctival telangiectasis appeared between 3rd and
4th year of age, sometime confused with angular Fig. 7.5: Ataxia telangiectasia.Note right
conjunctivits. temporal bulbar telangiectasia
CUTANEOUS FEATURES
Cutaneous telangiectasia observed later in course of illness. Premature aging of skin and hair,
recurrent skin infection are other reported features.
Recurrent pulmonary infection and malignancy are two common causes of death. Low
level of IgA and IgE with high levels of IgM, serum alpha—fetoprotien and Carcino-embryonic
antigen are supportive to the diagnosis of ataxia telangiectasia.
Neurology 157
PARRY-ROMBERG SYNDROME (Fig. 7.6)
Parry-Romberg syndrome is a rare disorder characterized
by slowly progressive hemifacial atrophy, distinctive changes
of the eyes and hair. Symptoms and physical findings usually
become apparent during the first or second decade of life. In
rare cases, the disorder is apparent at birth. In most cases,
Parry-Romberg syndrome appears to occur sporadically.
Neurological Features
Episodes of uncontrolled seizures, trigeminal neuralgia and Fig. 7.6: Parry-Romberg syndrome.
Left facial atrophy with hyperpigmen-
migraine like headaches.
tation of forehead
Cutaneous Manifestations
Initial facial changes usually involve the tissues above maxilla or nasolabial fold and progress to
involve the angle of the mouth, the areas around the eye, the brow, the ear, and sometimes
neck. In most cases, progressive tissue wasting is limited to one half of the face, usually the left
side. Affected areas may demonstrate atrophy of subcutaneous tissue and underlying cartilage,
muscle or bone.
In addition, the skin may become hyperpigmented vitiligo is rarely reported. Atrophy of half
of the upper lip and tongue, or wasting of the roots of certain teeth on the affected side also
seen.
In many cases, hair abnormalities may also appear on the affected side including whitening,
bald patches, loss of eyelashes and eyebrow.
MANAGEMENT
In most affected individuals, hemifacial atrophy typically progresses over approximately three
to five years and then ceases. Plastic surgery of the face should be deferred till progression of
facial atrophy.
A B
Figs 7.7A and B: Cutis Verticis Gyrata—(A) Family with cutis verticis gyrata with care taker.
(B) Vertical skin folds over scalp
A B
C D
Figs 7.8A to D: Klippel-Trnaunay-Weber syndrome. (A) (B) New born with the vascular nevi and
asymmetrical right limb hypertrophy. (C) (D) New born with hypertrophy nevus over left lower limb
Neurology 159
WAARDENBURG SYNDROME (Figs 7.9A and B)
Autosomal dominant disorder due to defective migration and differentiation of neural crest
cells. It is characterized by heterochromic irises, lateral displacement of medial canthi dystopia
canthorum, broad nasal root, deafness, a white forelock and hypopigmented cutaneous lesion.
A B
Figs 7.9A and B: Waardenburg syndrome (A) Unilateral hetrochromia iridae.
(B) Note hetrochromia iridae in a child and his grandmother, there was hearing loss in both
INTRODUCTION
It is most common parasitic disease of CNS caused by larval form of Taenia solium. When the
cysticercus cysts are present in the brain it is called neurocysticercosis.
It is caused by eating improper cooked pork and also spread by orofecal route. The most
common age of presentation is school age group.
A B C
Figs 7.10A to C: (A) White flat ribbon like adult parasite Taenia solium. (B) A boy infested with Taenia solium
has passed adult worm in stool. His parent brought the specimen to us with curiosity (C) CT scan head depicting
single ring enhancing lesion with surrounding edema
160 Spotters in Pediatrics
Life cycle: Adult worm is carried in human intestine (definite host). The eggs are excreted
in the faces are ingested by pig (intermediate host). The ingestion of infected uncooked
pork, raw vegetables contaminated with sewage and human excreta causes the larval form
to enter in the human body. The larval form enters the circulation and spread into most of
the tissue. Larva forms the cysts in the CNS, ranges from 4 to 20 mm. It contains transparent
fluid and contains thin, whitish friable membrane. Scolex is visible as invagination of 2 to
3 mm of membrane. There are four stages of the parasite.
• Vesicular stage—This is the viable cystic stage with scolex and without inflammatory
reaction around it.
• Cysticercus granuloma—The vesicular stage is converted into granuloma after 1-5 years.
It consists of cyst filled with jelly like whitish fluid and is covered by dense fibrous
capsule. The scolex degenerates and forms eccentric mural nodule.
• Granulomatous nodular stage—It is small size lesion covered by thick wall with no
scolex.
• Calcified stage—All cysts degenerate and calcified later on.
The first three stages represent active form and fourth one inactive form of NCC. Live
cysts and granuloma are symptomatic ‘active’ while residual calcifications and gliosis are
considered ‘inactive’.
Clinical features—Seizures are the most common presentation of NCC. Almost all type of
seizure are noted in NCC. Raised intracranial pressure, headache, hemiplegia,
meningoencephalitis, learning disability, and psychomotor problems. The youngest child
described was 9 months.
Diagnosis—NCC is diagnosed 1. Clinical features. 2. Immunological tests. 3. Cerebrospinal
fluid. 4. Neuroimaging. Serology, CSF studies, stool examination, radiology of leg muscle
and funduscopy are usually not cost effective in children as the parasite load is not high in
children.
• Immunological tests—NCC is diagnosed by immunological test of serum and CSF. ELISA
for IgM antibodies has sensitivity of 50 percent and specificity of 70 percent in serum
and 87 percent sensitivity and 95 percent specificity in CSF. The enzyme linked
immunoelectrotransfer blot (ELTB) assay is 100 percent specific and 98 percent sensitive
for diagnosis of NCC.
• CSF examination shows pleocytosis mostly lymphocytes and eosinophils.
• Neuroimaging—CT scan and MRI helps in accurate diagnosis of NCC. CT scan pickup
60 to 75 percent cases of NCC. It shows hypodense cystic lesion with eccentric hyper
density indicating scolex, on contrast CT it appears as ring enhancing. Lesions are
mainly at grey-white junctions in parietal, frontal and occipital lobes and are rare in
temporal lobe and the posterior fossa. The tuberculoma, a common differential diagnosis,
on the other hand, is seen more in basal region. MRI pickup early parenchymal cyst and
edema.
Radiological criteria for diagnosis of NCC according to Rajshekhar V1 et al are as follows.
MRI features—Single, small well defined lesion less than 20 mm, contrast enhancement,
ring, disc oval lesion, perifocal edema, absence of mass effect, corticomedullary junction
location.
Neurology 161
CT features—Multiple low-density lesions with or without enhancement, diffuse bilateral
low-density pattern, chinked pattern, calcified lesions, scolex, meningeal obstruction,
obstructive hydrocephalus, up to three lesions, solitary lesions, communicating
hydrocephalus.
Treatment
• Cysticidal drugs—its use in NCC is controversial. Present consensus in that the intracranial
lesion improves of its own and use of cysticidal drugs probably expedite the natural
course of disease and chance of local scarring and later calcification is increased. Main
indication are said to be cysticercosis meningitis and intracranial hypertension. Drugs
used are Praziquental 50 mg/kg/day in three divided doses for 14 days. Albendazole
15 mg/kg/day for 28 days.
• Corticosteroids—is indicated when patient is under cysticidal drugs. It combat the
symptoms caused by parasite death.
• Anticonvulsant—either carbamazepine or phenytoin is adequate in controlling the seizures.
The duration to which these drugs are used in still controversial. They are used from 6
to 18 months.
A B
Figs 7.11A and B: Facial palsy. (A) Left facial palsy. (B) Left facial palsy in a boy note
it becomes obvious while closing the eyes, left half of the face droops
162 Spotters in Pediatrics
Clinical features
• A history of viral infection and upper URI is seen.
• The features of neuritis like pain, tingling in the ear canal in the ipsilateral ear always
precede the palsy.
• The half of the face on the affected side sags and enlarges the palpebral fissure.
• In an attempt to use the muscle of expression the face is pulled to the normal side. There
is difficulty in eating and drinking, the fluid leaks from the weak corner of the mouth.
Depth of nasolabial fold is reduced on the affected side.
• The most common portion of the facial nerve involved is the portion within temporal
bone, which impairs the taste, lacrimation and salivation (due to involvement of chorda
tympanic branch) and induces hyperacusis (due to involvement of nerve to stapedius
muscle).
• The muscle remains week for 2 to 4 weeks and then strength returns to normal gradually.
Diagnosis: The diagnosis is mostly clinical but thorough clinical and neurological examination
is needed to rule out other problematic conditions. Patients ear is to be examined for herpetic
vesicles (Ramsay Hunt syndrome).
Imaging is required when facial palsy is in association with other neurological disorder or if
facial palsy persists for more than a month.
Bells palsy has to be differentiated from upper motor neuron lesion of facial nerve. In lower
motor neuron lesion whole half of affected side is paralysed while in upper motor neuron
lesion upper half of the face (forehead) is spared.
Bilateral facial palsy though very rare is seen in Guillian-Barre syndrome, Sarcoidosis and
Melkersson-Rosenthal syndrome later is triad of facial palsy, recurrent facial edema and
plication of tongue.
Management—to maintain the moistness of the cornea artificial tears are used. Protect the
eye while playing by covering. Children with facial palsy do not require corticosteroid as
compared to adults. If at all it is planned to start in older child, hypertension and infection
has to be ruled out.
A B
Figs 7.12A and B: Marcus-Gunn phenomenon. (A) Demonstration of Marcus-Gunn phenomenon. On an attempt
to move the lower jaw, as in the act of sucking the bottle, the left eyelid is retracting upwards. (B) Note the
retraction of left upper eyelid making the eyeball quite prominent
A B C D
Figs 7.13A to D: Myasthenia Gravis: (A) (B) Bilateral ptosis and facial weakness. (C) 8-year-old patient
presented with ptosis which aggravates during the end of the day, (D) Watch the response to inj neostigmine
over the ptosed eyes and facial alertness, this test is also one of the diagnostic for myasthenia gravis
164 Spotters in Pediatrics
DEFINITION
Rett syndrome is neurodegenerative disorder occurs only in girls and the prevalence is estimated
to be 1:10,000 to 1: 20,000. A period of normal development followed by loss of developmental
skill and with characteristic hand movement.
Neurology 165
GENETICS
This is caused by mutation in the gene encoding methyl-CpG-binding protein-2. The gene maps
to chromosome Xq28. The precise mechanism of inheritance by which an X-linked disorder
occurs in only female is not yet established.
A B
Figs 7.14A and B: Rett syndrome: (A) Hand wringing and mouthing movements in a girl aged 2 years
(B) Note the stereotype hand washing movement and mouthing in a 1-year-old patient
CLINICAL FEATURES
Affected girls are normal during the first year. Developmental arrest usually begins at
12 months but may appear as early as 5 months but as late as 18 months.
The initial features are deceleration of head growth leading to microcephaly and rapid
developmental regression. It is characterized by loss of language skills, decreased use of
hands, gait ataxia, seizures and autistic behavior.
There is characteristic feature of this syndrome is loss of purposeful hand movement before
age three. They are replaced by stereotype activity that looks like hand wringing of washing.
Disorganized breathing with hyperventilation. Seizures are common and is seen in 75-80
percent patient and vary from tonic clonic, partial complex seizures, Myoclonic seizures
occur in most children between the ages of 1 and 3 years.
DIAGNOSIS
So far no rational interpretation has been presented to correlate these derangements with
underlying disease and the diagnosis is purely clinical. Recently mutation in MECP2 seems to be
the main cause of Rett syndrome in 77 percent cases.3, 4
TREATMENT
No specific therapy has been suggested. Anticonvulsant has been used to control the convulsion.
166 Spotters in Pediatrics
INTRODUCTION
In 1965, Dr Harry Angelman, an English physician, first described three children with features
of Angelman syndrome. They all have stiff, jerky gait, excessive laughter and seizures.
SYNONYM
Happy puppet syndrome
CLINICAL FEATURES5
Developmental delay, functionally severe speech impairment, none or minimal use of words;
receptive and on-verbal communication skills are higher than verbal ones.
Movement disorders usually ataxia, and tremulous movement of limbs.
Behavior uniqueness; any combination of frequent laughter, smiling, apparent happy
demeanour, easily excitable personality, often with hand flapping movement.
Delayed disproportionate head growth leading to microcephaly and seizures. EEG is
characteristic – (1) 2-3 Hz high amplitude slow wave (over 200 mV) mixed with spikes or
sharp wave. (2) Large amplitude slow wave 4-6 Hz (theta activity) amplitude reaching >
200 mV.
Tongue thrusting, sucking, swallowing seen. Wide mouth, wide spaced teeth and frequent
drooling.
A B
Figs 7.15A and B: Angelman syndrome. Note happy disposition, wide mouth, wide spaced teeths
GENETIC ASPECTS
There is microdeletion at chromosome 15 at 15q11-q13 seen in 60 percent cases. Few cases
have paternal disomy for chromosome 15.
Neurology 167
DUCHENNE MUSCULAR DYSTROPHY (DMD) (Figs 7.16A to D)
DEFINITION
Duchenne muscular dystrophy is the most common hereditary neuromuscular disease affecting
all race.
INCIDENCE
It is 1:3,600 live born infant boys.
GENETIC
It is inherited as X-linked recessive trait. DMD and Becker muscular dystrophy (BMD are
variable phenotypic expressions of a gene defect at the Xp21 site. The abnormal gene product
in both DMD and BMD is a reduced muscle content of the structural protein dystrophin. In
DMD the dystrophin content is less than 3 percent of normal, and in BMD thee dystrophin
content is 3 percent to 20 percent of normal.
CLINICAL FEATURES
Gait disturbance is the early feature, onset always before age 5 years and is often before age 3.
Toe walking and frequent fall are typical complaints.
Proximal muscle weakness is sufficiently severe to cause difficulty in rising from floor and
an obvious waddling gait. This is called as Gower’s sign. It is evident at age 3 and is fully
expressed at age 5 to 6 yr. Calf muscle is hypertrophied.
There is learning disability and mild mental retardation.
Functional ability deteriorates after 8 yr, and after 9 children may requires wheel chair.
Scoliosis occurs in some children. The immediate cause of death is usually a combination of
respiratory insufficiency and cardiomyopathy.
A B C D
Figs 7.16A to D: DMD. Note ths patient aged 6 yr exhibiting classical ‘GOWER’S SIGN’. The child needs to turn
prone to rise, then uses his hands to climb up on his knees before standing, because of poor hip girdle fixation
and or proximal muscle weakness. Any child continuing to do this after 3 yrs is likely to have a neuromuscular
condition
168 Spotters in Pediatrics
DIAGNOSIS
Before age 5 years the serum CK is 10 times the upper limits the rate of normal. The
concentration then declines with age at an approximately 20 percent per year.
Mutation analysis is the standard for diagnosis, carrier detection, and fetal diagnosis. Iatrogenic
deletion can be identified in 60 percent of affected boys and duplication in another 6 percent.
Dystrophin analysis of muscle is useful to distinguish DMD from BMD.
TREATMENT
There is neither a medical cure for the disease nor a method of slowing its progression.
Quality of life can be improved by tackling complications.
Supportive therapy—cardiac, pulmonary support, vitamins, calcium, physiotherapy.
Myoblast transfer therapy—it is in experimental state.
Prednisolone, 0.75 mg/kg/d increases strength and function of muscle. It decreases the rate
of apoptosis or programmed cell death of myotubules during ontogenesis, but long-term
steroid use has its own disadvantage.
SPINA BIFIDA
Synonym- Spinal dysraphism, rachischisis, meningocele, meningomyelocele.
Definition- Spina bifida can be defined as a midline defect of the vertebrae resulting in
exposure of the contents of neural canal.
C B D
Spina bifida
Ventral Dorsal
(Rare) (Common)
Spina bifida occulta (15%) Spina bifida aperta (85%)
• Meningocele
• Meningomyelocele
Dorsal defect is by far the most common. They are subdivided into two spina bifida occulta
15 percent is characterized by small defect completely covered by skin. Most of the time
the condition is asymptomatic and is detected incidentally at radiographic examination of the
spine. Some time an area of hypertrichosis, pigmented or dimpled skin, or presence of
subcutaneous lipoma. A dermal sinus connecting skin to vertebrae and to the dura mater
may occasionally be seen.
Spina bifida aperta—is the most common, i.e. 85 percent of dorsal defect. It may be open
or covered by a thin membrane. If the tumor contains purely meninges it is meningocele and
if it contains neural tissue it is called meningomyelocele.
Associated anomalies—The two main categories are associated CNS defects and foot defect.
The CNS defects consists of abnormality in posterior fossa called as Arnold-Chiari
malformation type II. Dislocation of hip and foot deformity (club foot, rockerbottom foot).
A B C
Clinical manifestation
• These defects presents in axial skeletal with variable amount dermal covering depending
on specific lesion.
• Head is examined for presence of increased intracranial pressure by assessing fontanelles.
Head size is important to rule out large size and lacunar skull (Leukenschadel)
• Lower limb abnormalities includes club foot and limited range of movement.
• Neurological examination depends on type and level of lesion. In higher lesion reflexes
may be absent like knee, ankle and anal wink. Sensory impairment reflects the level of
the lesion.
• About 85 percent of the NTD occurs in isolation, and inheritance is multifactorial. There
may be visible associated congenital anomalies like cleft lip and palate, imperforate anus
and crytorchidism.
• There are few conditions, which are associated with NTD. Like Chromosomal
abnormalities especially trisomy 13 and 18 syndrome. Mutant gene (Meckels syndrome),
teratogen exposure (alcohol, valproate, thalidomide).
Prenatal diagnosis
• Maternal alpha fetoprotein (AFP) levels at 16 th weeks of gestational age is now standard.
Elevated AFP for gestational age (>2.0 multiples of mean {MOM}) should prompt further
investigation via high-resolution sonography to look for fetal anomalies. Elevated amniotic
fluid AFP and acetylcholinesterase provides further support for the diagnosis.
• Radiographic signs of open neural tube defect specifically include signs of the associated
Arnold-Chiari malformation (a “banana sign” or flattened cerebellum and a transient
frontal bone anomaly (a “Lemon sign”). USG can also demonstrate the level of the
normal cord and placode. Fetal MRI can further define anatomy.
Preventive measures—all women of child bearing age should receive folic acid 0.4 mg/day
(maximum daily requirement of folic acid is 0.4 mg).
For women who previously have given birth to an affected infant with a neural tube defect
should receive folic acid 4.0 mg/day beginning one month prior to conception through 3
month of pregnancy.
Obstetrical management—The most important issue here is time and mode of delivery.
Infants with spina bifida should be delivered at term. Preterm deliveries are considered in
case when fetal ventriculomegaly and macrocrania is suspected. If the diagnosis is made in
the second trimester the option for termination has to be offered to the patient. Vaginal
deliveries may cause the trauma to neural tissues and exposes to bacteria of the birth canal.
A B
Figs 7.19A and B: (A) Sincipital meningoencephalocele. (Photograph courtesy Dr Abhijeet Saha & Dr Prerna
Batra Senior Lecturers in Pediatrics, MGIMS, Sevagram, Wardha. (B) Sincipital encephalocele in one month old
female child.
A B
Figs 7.20A and B: (A) Anencephalic baby with occipital encephalocele and attached placenta.
(B) Anencephalic still born note the loss of cranial vault and peeping brainmatter
172 Spotters in Pediatrics
ETIOLOGY
It has been reported in maternal syphilis and with Fig. 7.21: Iniencephay stillborn. Note the extreme
sedative intake. retroflexion of neck and rechischisis of cervico
thoracic spine
DIAGNOSTIC CRITERIA
Imperfect foramina of the base of the skull, particularly at the level of foramen magnum.
Presence of spinal rachischisis.
Exaggerated lordosis of the spine.
ASSOCIATED ANOMALIES
Eighty four patient of iniencephalic infant have other associated anomalies, including anencephaly,
cephalocele, absence of mandible, cleft lip and palate, cardiovascular anomalies, diaphragmatic
hernia, single umbilical artery, omphalocele, gastoschisis, situs invertus.
PROGNOSIS
Almost fatal.
OBSTETRICAL MANAGEMENT
The option of termination of the pregnancy should be offered to the patient. If pregnancy is
continued it may cause obstructed labor due to hyperextended head, hence cephalocentesis or
embryotomy has to be done to avoid cesarean section.
DEFINITION
Microcephaly is clinical syndrome characterized by a head circumference below 2 SD.
Neurology 173
A B
Figs 7.22A and B: (A) Small sloping forehead with head circumference below 2 SD. Clinically patient was
exhibiting features of spastic cerebral palsy (B) A patient with gross microcephaly and mental retardation
CLASSIFICATION
Microcephaly is divided into two categories: (a) Microcephaly without associated anomalies
and (b) Microcephaly with associated malformations like macrogyria, pachygyria, and atrophy
of basal ganglia.
Causes
Familial—when present since birth and development is normal. Autosomal recessive condition—
when it is associated with developmental delay. Congenital infections. Acquired—insult to the
developing brain like perinatal hypoxia, hypoglycemia, meningitis, they are later associated with
cerebral palsy and seizures.
•A number of syndromes may be associated with ACC. Some of the more common ones
include Dandy-Walker syndrome, Aicardi syndrome, fetal alcohol syndrome, and several
of the trisomies.
The establishment of a nosologic diagnosis clarifies the etiology of the disease, providing
more efficient genetic counseling and treatment options.
A B
Figs 7.23A and B: Agenesis of corpus callosum (A) CECT head depicting selective dilatation of trigones and
occipital horns of lateral ventricles. There was a high riding third ventricle with radial spoke like arrangement of
gyri. (B) MRI head- hypoplasia of corpus callosum. This 11-month-old patient was put on to long-term anticonvulsants
(Photographs courtesy- Dr Sidharth Kumar Sethi, Dr Anju Aggarwal, Dr MMA Faridi Department of Pediatrics,
UCMS and GTB Hospital, Shahdara,Delhi)
A B
C D
Figs 7.25A to D: (A) A one-year-old child presented with prolonged pyrexia. He was first issue of
nonconsanguinous marriage. He had history of periodic tachypnea and apnea. Note the hypotonia and postaxial
polydactyly of fifth toes, occulomotor apraxia and abnormal eye movements. (B) Fundus examination revealed
coloboma of disc and choroids. (C, D) CT Scan head revealed vermian agenesis and ‘Molar tooth sign’
176 Spotters in Pediatrics
Differential diagnosis—The “molar tooth sign” could be present in association with the
Dandy-Walker malformation and occipital encephalocele. The differential diagnosis of
cerebellar hypoplasia consists of conditions related to Joubert syndrome such as Arima
syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital
ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1
mutations.
A B
Figs 7.26A and B: Macrocephaly. (A) A neonate with hydrocephalus at birth. (B) A neonate with Hydranencephaly.
Please note that clinically all large head appears same unless screened by cranial ultrasound or CT MRI head
Fig. 7.27: Transillumination test. Note
the transillumination over the skull
firmly attached to the skull. Note the transillumination. Translucency beyond 2 to 2.5 cm in
the frontal region and over 1 cm in the occipital region may be abnormal. Transillumination
is positive in subdural effusion, subdural hematoma, hydrocephalus, hydranencephaly and
porencephaly. Suboccipital transillumination is positive in Dandy-Walker malformation.
A B
Figs 7.29A and B: Acute dystonic reaction: (A) Six-year-old patient had spasmodic conjugate deviation of the
eye upwards accompanied by synergistic movement of head and neck (Occulogyric crisis). This abnormal
posture was caused by drug metachlorpramide, a nonphenothiazine antiemetic that blocks post synaptic dopamine
receptors. (B) Two-year-old boy presented with abrupt onset of dystonia of neck with uprolling of eye ball, he
has received injection metachlorpramide for vomiting
Domperidone and metoclopramide use is restricted in children and young adults (under 20
years) in whom acute dystonic reactions are more common, often delayed (tardive) dystonias
are seen.
Condition is self-limiting or responds well to anticholinergics (benztropine) or benzodiazepines,
but they may be prolonged and resistant to therapy.
Tardive Dystonia—The onset is usually 3 to 11 days after treatment with neuroleptics drugs
is initiated. The dystonia is usually generalized in children but may be focal in adults.
REFERENCES
1. Rajshekharan V, Haran RP, Prakash S. Differentiating solitary small cysticercus granulomas and tuberculomas
in patients with epilepsy. J.Neurosurg 1993;78:402-07.
2. Myasthenia gravis; 250 cases in clinical medicine, RR Baliga; 186, third edition 2002.
3. Huppke P et al, Rett syndrome: analysis of MECP2 and clinical characterization of 31 patient; Hum Mol
Gen 2000;22:9(9):1369-75.
4. M Ghofrani and T Mahmoodian. Rett syndrome; Indian Journal of Pediatrics 2000;67(7).
5. Angelman syndrome. Consensus for diagnostic criteria. Am J Med Genet 1995;56:237.
6. Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic
aspects of Joubert and related syndromes. : J Child Neurol. 1999;14(10):660-6; discussion 669-72
Chapter
8 Genetic
DEFINITION
It is chromosomal disorder, having aberration on chromosome number 21 hence also called as
trisomy 21. It was first described in 1866 by John Langdon Down. The condition was labeled
‘mongolism’ due to its facial resemblance to people of mongolian race.
CLINICAL FEATURES
The facial feature of this condition is so classical that it can be recognized immediately or
‘gestault’ recognition. The patient is hypotonic, short nose with flat nasal bridge, up slanting of
palpebral fissure and prominent epicanthic folds, speckling of iris (Brushfield spots), mouth
small and tongue appears large. Ears low set with sensorineural deafness in 75 percent patients.
Occiput is flat, neck short. CHD is present in 40 percent cases with A-V canal defects. Duodenal
atresia is most common gastrointestinal problem associated. Simian crease, short and broad
hands with short metacarpals and phalanges, clinodactyly, hypoplasia of middle phalanges of
little finger. Wide gap between first and second toe. Hypoplastic pelvis and short stature.
Hypothyroidism is more common than hyperthyroidism. Ten fold higher chances of leukemia
than general population.
GENETIC ASPECTS
Trisomy 21- There are three representatives of chromosome 21 instead of usual two, thus
making a total of 47 chromosomes.
Maternal nondysjunction at chromosome 21 is responsible for 95 percent of trisomic cases.
Mosaicism is seen in 3 percent cases.
180 Spotters in Pediatrics
A B C
Figs 8.1A to C: Down syndrome. (A) note upslanting palpebral fissure, epicanthus folds, prominent tongue, small
nose, depressed nasal bridge (B) A 10-year-old girl of Down syndrome, note the Mongolian slant of palpebral
fissure, synophrys,epicanthus (C) Cliniodactyly with simian crease
PRENATAL DIAGNOSIS
Triple test: Screening with triple markers offers a non-invasive method for detection of up
to 60 percent of Down syndrome pregnancies. Presence of Down syndrome can be suggested
by:
• Lower maternal serum alpha fetoprotien (msAFP) levels.
• Decreased maternal serum unconjugated estradiol values.
• Increased maternal serum human chorionic gonadotropin values.
It is performed between 16 and 18 weeks and if positive needs further invasive tests.
Chorionic villous blood sampling by amniocentesis of all mothers above 35 years age.
Antenatal ultrasonography: May reveal increased nuchal fold translucency, duodenal atresia,
tracheoesophageal atresia, VSD, ASD, hypoplasia of middle phalange of little finger. This
anomaly scan is to be performed at 24 weeks gestation.
Genetic 181
Fetal nuchal skin thickening: It is increase soft tissue thickening in the posterior aspect of
neck. The nuchal thickness of more than 6 mm during second trimesters has a sensitivity of
38 percent and positive predictive value of 69 percent with false positive rate of 0.1 percent
for Down syndrome. More recently thickness of more than 3 mm in the first trimester
increases the risk of Down syndrome by 10 folds. There are some other condition were
increased thickness of skin is seen over nuchal region are:
Chromosomal syndromes: 13q syndrome, xxxx and xxxxy syndromes, trisomy 18,
18p-syndrome.
Nonchromosomal disorders: Multiple pterigium syndrome (Escobar syndrome), Klippel-
Feil sequence, Zellweger syndrome (cerebrohepatorenal
syndrome)
DEFINITION
Trisomy of chromosome 18 results in Edwards’ syndrome. It occurs with frequency of 1 in
5,000 live births. This condition is noted in deliveries of aged mothers. Female male ratio is 4:1.
CLINICAL FEATURES
These babies have low birth weight, prominent occiput, narrow palpebral fissure. Nails are
small and finger occupies a peculiar position. Small and second and fifth finger overlap the
middle two. Feet have convex profile with prominent heel it is called as Rocker bottom foot it
is due to vertical talus. Other anomalies associated are cleft lip, exomphalus, radial aplasia,
CHD, horseshoe kidney. 30 percent cases die within 2 month and 90 percent die before one
year.
B C
Figs 8.2A to C: Edwards’ syndrome.(A) Preterm, low birth weight baby with sloping forehead. (B) See the feet
profile which is convex and heel prominent ‘Rocker bottom foot’. (C) Characteristic fisting in which second and
fifth finger overlaps the middle two
182 Spotters in Pediatrics
GENETIC BASIS
Most of the cases have regular trisomy. The risk of recurrence is one percent.
PRENATAL DIAGNOSIS
Second trimester anomaly scan will reveal presence of IUGR, CHD, polyhydramnios, club
foot, rocker bottom feet, choroid plexus cyst, large cysterna magna, micrognathia and small
nose.
A B
C D
Figs 8.3A to D: Patau syndrome (A) Microcephaly with sloping forehead, hypotelorism, small nose. (B) Localized
scalp defect in parieto-occipital area. (C) Shows postaxial polydactyly in both hands. There is flexion of fingers
with overlapping and camptodactyly. (D) Shows polydactyly of right foot (Photograph courtesy Dr Ramesh
Bhatt, Manipal)
Genetic 183
SALDINO-NOONAN SYNDROME
(SHORT RIB-POLYDACTYLY TYPE I) (Figs 8.4A to D)
CLINICAL FEATURES
This condition was originally described by Saldino and Noonan in 19721 Naumoff et al (1977)
proposed two distinct type of lethal short rib polydactyly syndrome. Type I and type II. Saldino-
Noonan syndrome is comparatively common and characterized by micromelia, postaxial
polydactyly, brachydactyly, thoracic narrowing and abnormalities of the cardiovascular system
and genitalia.
The base of the ileum is hypoplastic and vertebrae rounded, sometimes with coronal clefts.
The ends of the long bones are either pointed or have a convex central area of ossification
with lateral metaphyseal spikes.
GENETIC ASPECT
It is autosomal recessive condition.
It is lethal condition and death occurs within few hours of birth and is due to pulmonary
hypoplasia.
Antenatally in the absence of positive family history specific diagnosis is not possible. The
condition is suspected in the presence of short limb dysplasia, narrow thorax, and polydactyly.
OBSTETRICAL MANAGEMENT
The option for termination of the pregnancy must be offered to the patient as soon as the
diagnosis has been established.
A B
C D
Figs 8.4A to D: Saldino-Noonan syndrome. (A) Infant with very narrow thorax, short limbs, and postaxial
polydactyly. (B) Severely shortened thorax, short ribs, small pelvis, short tubular bones (C) (D) Note polysyndactyly
Ref- Indian Pediatrics 2005; 42:389 with permission
184 Spotters in Pediatrics
CLINICAL FEATURES
This is extremely rare condition, presents with short stature with disproportionate short limbs.
There is characteristic mid line cleft lip cleft palate. Short flat nose malformed and low set ears.
Preaxial and postaxial polysyndactyly of hands or feet. Brachydactyly, short and oval tibia,
short rounded metacarpals, narrow thorax, horizontal ribs. Ambiguous genitalia are common.
Death is due to pulmonary hypoplasia.
A B C
Figs 8.6A to C: Majewski dysplasia (A) Note midline cleft, depressed nasal bridge, low set ears (B) Polysyndactyly
of palms and feet (C) X-ray revels shortening of limb, presence of oval shaped tibia
GENETIC ASPECT
It is autosomal recessive condition.
Prenatal diagnosis: It has been made in fetuses at risk by identification of short tibia, polydactyly
and cleft lip at fetoscopy, or severe micromelia, short ribs with narrow thorax, and polydactyly
at ultrasound. The earliest diagnosis has been made at 16th week of gestation.
Genetic 185
OBSTETRICAL MANAGEMENT
Termination of the pregnancy must be insisted after the diagnosis of the condition.
CLINICAL FEATURES
The patient is delivered with short limb, prominent forehead and depressed nasal bridge.
Chest is narrow. Affected individual are usually stillborn or die due to respiratory insufficiency
in the neonatal period.
B C
Figs 8.7A to C: Thanatophoric dysplasia. (A) Note very short bowed limbs, narrow chest with large head,
prominent forehead, depressed nasal bridge, mid facial hypoplasia. (B) X-ray Pelvis with lower limb- Shortened
long bones with metaphyseal widening and cupping and characteristically curved femur “Telephone receiver”.
The iliac wings are hypoplastic, narrow sacrosciatic notches, severe flattening of vertebral body gives ‘H’ or ‘U’
shape in AP radiographs. (C) X-ray chest and abdomen revealed narrow thorax along with classical skeletal
abnormalities
186 Spotters in Pediatrics
The vertebral bodies have an H-shaped appearance in frontal radiograph due to flattening of
their mid-portions and relative prominence of their pedicles. Pelvis is broad, with horizontal
acetabulae. The tubular bones are broad and short. The femora are bowed with a ‘telephone
receiver’ configuration, which is pathognomic of thanatophoric dwarfism.
GENETIC ASPECTS
Most cases are sporadic. A lethal dominant gene probably causes the condition. Mutation of
the Fibroblast Growth Factor 3 (FGFR3) gene has been demonstrated.
Thantophoric dysplasia (TD) associated with clover- leaf skull is a separate condition from
isolated TD also called as ‘Kleeblattschadel’ syndrome. The long bones are longer and may
not be bowed. The skull changes are very unusual in that the basal and occipital bones are
underdeveloped so that parietal bones form most of the back of the skull.6
ANTENATAL DIAGNOSIS
A specific diagnosis of this condition is only possible when severe micromelia is associated
with cloverleaf skull. In the absence of cloverleaf skull the disease should be suspected when
severe rhizomelic dwarfism and a narrow thorax are detected. In 71 percent cases achondroplasia
is associated with polyhydramnios. These features may not be evident till late mid trimester.
The relationship between femur and BPD become abnormal after 21st and 27th weeks.
OBSTETRICAL MANAGEMENT
When the diagnosis is certain the option to terminate the pregnancy may be offered to patient
since the condition is uniformly fatal.
SYNONYMS
Type IA is the Houston-Harris type,
Type IB is the Parenti-Fraccaro type,
Type II is the Langer-Saldino type and is also called Chondrogenesis Imperfecta. It is difficult
to distinguish them clinically.
INCIDENCE
Rare with probably less than 100 cases reported.
Genetic 187
GENETICS
Mutations in the COL2A1 and SLC26A2 genes cause achondrogenesis. Type I may be inherited
as autosomal recessive in some cases. Most of the type 2 are sporadic and are likely to represent
new autosomal dominant mutation.
A B C D
Figs 8.8A to D: Achondrogenesis: (A and B) A stillborn infant with rhizomelic shortening of limbs, head appears
relatively large, short neck, short thorax, (C and D) X-ray whole body reveals very short long bones with
metaphyseal widening, vertebral bodies poorly mineralized. Photographs courtesy Dr Nalini Madharia, Raipur,
CG.
DIAGNOSIS
Type I achondrogenesis is a severe chondrodystrophy characterized radiographically by
poor ossification of the spine and pelvis bones which results in stillbirth or early death.
Type II also presents with the same findings but the mineralization deficit is less severe and
the long bones less short.
Differential Diagnosis
Osteogenesis Imperfecta (type II and occasionally IIIc) and hypophosphatasia also present
with demineralization but the limb shortening is not usually as severe.
Prognosis
Lethal
MANAGEMENT
Termination of pregnancy can be offered before viability. Standard prenatal care is not altered
when continuation the pregnancy is opted for. Confirmation of diagnosis after birth is important
for genetic counseling.
188 Spotters in Pediatrics
ETIOLOGY
Autosomal recessive inheritance. Minor manifestations of the disease have been noted in parents
of affected children, and therefore, the possibility of heterozygous expression has been suggested.
CLINICAL FEATURES
Jeune syndrome or asphyxiating thoracic dystrophy (ATD) is a rare autosomal recessive skeletal
dysplasia characterized by a small thorax, predominantly rhizomelic brachymelia, renal and
hepatic anomalies. Half of the cases have polydactyly. Radiological confirmation of diagnosis is
essential. The ribs are short, and the ilia of the pelvis are small, horizontal acetabular roof medial
bony projection is visible to give a trident appearance. Premature ossification of capital femoral
epiphysis is seen. Newborn with thoracic dysplasia associated with lung dysplasia usually die
during the neonatal period due to respiratory failure. In those who survive, chronic renal failure
is a common cause of death. Renal histopathology reveals cystic changes later peri-glomerular
fibrosis. Cirrhosis liver is also one of the causes of early morbidity.
ANTENATAL DIAGNOSIS
At present there is no biochemical or
genetic marker, which could be used for
prenatal diagnosis of ATD. However,
prenatal ultrasonography measurements
like TC/AC (Thoracic circumference /
Abdominal circumference) and RCP (Rib
Cage Perimeter)/TC helps in diagnosing
skeletal dysplasia associated with small
thorax.
PROGNOSIS
A B
Eighty percent of affected infants die in
the neonatal period from respiratory failure Figs 8.9A and B: Asphyxiating thoracic dystrophy. (A) Note
small and elongated thoracic cage, protuberant abdomen.
and infections. Long- term survivors have (B) Note short horizontal ribs with irregular costochondral
been reported but they seem to have milder junction and narrow thoracic cage
form of disease.
OBSTERTICAL MANAGEMENT
Termination of pregnancy is offered when the diagnosis is made in second trimester. There is
paucity of data on which to be based the management of cases diagnosed in the third trimester.
Genetic 189
ACHONDROPLASIA (Figs 8.10A to C and 8.11A to G)
Achondroplasia is by far the commonest and best-known form of short-limbed dwarfism.
CLINICAL FEATURES
The characteristic facies, habitus and stance of the achondroplast are unmistakable. They can
be diagnosed at birth.
The limbs are disproportionately short (rhizomelic shortening) and the knees are often bowed
while lumber spine is lordotic. There is inability to approximate the third and fourth finger
produces a ‘trident’ configuration of hand. The forehead is bossed and nasal bridge is
depressed.
The general health is good, and the life span is not reduced. Skeletal problems may include
premature osteoarthritis, particularly of knee joint. Backache may be troublesome and some
degree of spinal cord compression may supervene. Restriction of nasal airway predisposes
to upper respiratory infection. Mentality is normal, but intellectuality is compromised in
minority of achondroplasts, probably due to mild internal hydrocephalus. Severe
hydrocephalus needs sometime shunt surgery.
Radiologically the pelvis is abnormal with small iliac wings have ‘tombstone’ configuration,
horizontal acetabular roof with bony spike. The long bones are short and the metaphysis
slope. There is translucent area at the proximal ends of the femur in the neonatal period;
later narrowing of the interpedicular distances in the lumber region becomes evident. Skull
is relatively large, with frontal prominence and a small foramen magnum.
A B C
Figs 8.10A to C: Achondroplasia. (A) Short stature with rhizomelic shortening of limbs, with broad prominent
forehead. (B) X-ray upper limb. Note rhizomelic shortening (C) X-ray pelvis and legs Note short round ilea crest,
horizontal acetabular roof
190 Spotters in Pediatrics
GENETIC ASPECTS
Achondroplasia is an excellent example of autosomal dominant inheritance the gene is invariably
penetrant, with persistent clinical expression. More than 80 percent of achondroplasts have
normal parents.8 These ‘sporadic’ patients are assured to be the result of new mutation of
particular gene, which has taken place before conception. Murdoch et al2 have shown that
there is a significant increase in the average age of the unaffected fathers of sporadic
achondroplasts. Achondroplasia, therefore, ranks as one of the disorders in which paternal are
effect in the genesis of a new mutation has been demonstrated. The gene maps to 4q and
mutation have been demonstrated in the fibroblast growth factor receptor3 (FGFR3) gene.
A B C D
E F G
Figs 8.11A to G: Achondroplasia. (A) (B) Note large and prominent forehead, rhizomelic shortening and lumbar
lordosis (C) Chest X-ray-small thorax, shortened and anteriorly splayed ribs (D) X-ray pelvis- elephant ear-
shaped iliac wings. narrow sacrosciatic notches, flat acetabular roofs (E) X-ray skull - enlarge with significant
midfacial hypoplasia, hydrocephalus rarely presents, small skull base with tight foramen magnum (F) X-ray spine
shows short pedicle of vertebral bodies with decreased interpedicular distance most marked in the lumbar
spine. Posterior vertebral scalloping which persists through the life (G) Normal parent of an achondroplast child,
explains fresh mutation, here the recurrence risk are small
Genetic 191
COUNSELING
Unaffected parents of achondroplasts can be reassured that the risk of recurrence in further
offspring is very low. If an achondroplast married to normal individual, the offspring will
definitely be an achondroplastic. If both parents are achondroplasts then there is theoretical
chance of 25 percent of infants may be homozygous for abnormal gene, 25 percent may be
homozygous for normal gene and rest 50 percent may be heterozygous for abnormal gene.
PRENATAL DIAGNOSIS
Prenatal diagnosis of achondroplasia has been reported by several authors.9 The diagnosis has
been relied on identification of shortened long bones, particularly the femur. But it has been
noted that the shortening has not been picked up until the third trimester, and therefore a
diagnosis before viability may only be possible in the most severe cases.
PROGNOSIS
This condition is compatible with normal life. Recurrent ear infection occurs due to poor
development of facial bones and inadequate Eustachian tube drainage. Crowded dentition may
lead to malocclusion. Average height in men 52 inches and in female 49 inches. Hydrocephalus
and syringomyelia may be because of small foramen magnum. Sudden death and respiratory
compromises is attributed to compression of upper cervical spine. The most significant handicaps
in these patients are neurological complications secondary to spinal cord compression; which
may range from paresthesias to complete paraplegia.
DEFINITION
It is a syndrome characterized by short stature female, sexual infantilism, streak gonads, absence
of second sex chromosome and other somatic anomalies.
SYNONYM
Gonadal dysgenesis, XO syndrome, Ulrich-Turner syndrome.
GENETICS
Most cases (50%) have XO karyotype in every cell. About 15 percent cases have mosaic
pattern 45X, / 46XX and 45X/47XXX.
INCIDENCE
Between 1 in 2,500 and 1 in 6000. About 98 percent of pregnancies involving Turner syndrome
abort spontaneously.
192 Spotters in Pediatrics
B C
Figs 8.12A to C: Turner syndrome. (A) Newborn with webbing of neck, low posterior hairline,
edema of hand (B) Pedal edema (C) Webbing of skin and low posterior hair line
CLINICAL FEATURES
Short stature (adult height usually < 144 cm), broad chest with wide spaced nipple, webbing of
posterior neck (about 50% cases), lower posterior hair line, short neck, hyperconvex nails and
cubitus valgus (increased carrying angle of arms), lymphedema of dorsa of hands and feet.
OTHER FEATURES
CHD (15-30% cases) Bicuspid aortic valve (50%), coarctation of aorta (20%), aortic root
dilatation (10%), aortic stenosis, anomalous pulmonary venous return. Renal anomalies like
horseshoe anomalies, UPJ obstruction, absence of kidney. Hearing loss. Abnormally large ears,
epicanthus, ptosis of upper eyelid, downward and outward slant of palpebral fissure, short
fourth metacarpals, cutaneous nevi, which increase with age. Lack of sexual maturation with
primary amenorrhea in a teenager. Intelligence is normal with some impairment in cognitive
function like visual-spatial processing, visual memory. Associated diseases are primary
hypothyroidism, diabetes mellitus, ulcerative colitis, Crohn’s disease.
LABORATORY INVESTIGATIONS
Karyotyping in every suspected cases.
Buccal smear for sex chromatin (Barr body).
Genetic 193
Hormonal assay (FSH, LH, TSH, T4).
Bone age.
USG – reveals small ovaries with often streak like appearance, horseshoe kidney and other
related anomalies.
Echo evaluation of heart to pick up cardiac anomalies and to monitor progressive dilatation
of aortic root.
TREATMENT
To enhance the height of patient growth hormone therapy usually between 2 and 5 years. It
has to be continued until growth velocity decreases to less than 2.5 cm/year with a bone age
over 15 years.
It is quite expensive as dose required is very high. Cyclical estrogen progesterone treatment
at pubertal age will induce withdrawal bleeding and give psychological satisfaction to patient.
Manage other associated anomalies accordingly.
ETIOLOGY
Sporadic although some AR and AD familial cases are reported.
A gene has been mapped to 12q11-qter.
PERFORMANCE
Mild MR in 50 percent cases.
KEY FEATURES
Short stature (more than 66% of cases), broad forehead with
ptosis, malformed ears, (low set, fleshy fold sod upper
transverse helix), low posterior hairline with webbed neck.
OTHER FEATURES
CHD is seen in more than 50 percent of cases. Common CHD
are seen valvular pulmonary stenosis, peripheral pulmonary Fig. 8.13: Noonan’s syndrome. Six-
artery stenosis, PDA, ASD VSD, aortic coarctation and Ebstein year-old patient with short stature,
characteristic facies, pectus
anomaly. Cryptorchidism, epicanthic folds, hypertelorism, excavatum, and wide spaced
micrognathia, flat nasal bridge, (saddle nose). One third cases nipple. This patient had systolic
shows variety of bleeding disorders. Noonan’s syndrome should murmur at pulmonary area,
confirmed to have pulmonary
not be referred to be as “Male Turner’s syndrome”. stenosis on echocardiography
194 Spotters in Pediatrics
DIFFERENTIAL DIAGNOSIS
Noonan’s syndrome has to be differentiate from XO/XY mosaicism, fetal hydantoin syndrome,
fetal myosoline syndrome and fetal alcohol syndrome.
ETIOLOGY
Autosomal dominant inheritance (Fibrillin (FBN1) mutation in chromosome number 15q21).
KEY FEATURES
Skeletal
Tall stature, long cylindrical limbs (arm span longer than the height), distance from pubis
symphysis to heel is greater than distance to crown. The skeletal abnormalities present are
Arachnodactyly, pes planus, joint laxity with scoliosis in 60 percent kyphosis. Pectus excavatum
or carinatum. Flexing thumb in the fist, the thumb crosses the ulnar border of palm is called as
“Thumb Sign” (Steinberg’s sign).
Eyes
Sublaxation of lens usually upward with defect in suspensory ligament. Myopia and retinal
detachment.
A B
Figs 8.14A and B: Marfan’s syndrome: (A) Note tall thin habitus with arachnodactyly. (B) Steinberg’s sign
Genetic 195
Cardiovascular
Dilatation of aortic root, with or without dissecting aneurysm of ascending aorta. Mitral valve
prolapse and regurgitation.
Other Features
Joint hyperextensibility, scoliosis, kyphosis, narrow face, myopia, retinal detachment, glaucoma,
hernias, large ears, sleep apnea.
FOLLOW-UP MANAGEMENT
Prevention of scoliosis is important during childhood.
To start beta-adrenergic blocking drug as soon as diagnosis of Marfan’s syndrome is made.
It reduces the incidence of aortic dissection and dilatation.10
Secondary glaucoma has to diagnosed and managed accordingly.
DEFINITION
This is characterized by the association of micrognathia and glossoptosis. Frequently a posterior
cleft palate or a high arched palate.
Incidence
The frequency is 1:30,000.
Etiology
Sporadic in 40 percent cases. Autosomal dominant and
recessive nature has also been noted.
Embryology
The primary disorder is probably an early hypoplasia of the
mandible. This would lead to posterior displacement of tongue
thus preventing the normal closure of posterior palatine Fig. 8.15: Micrognathia in Pierre
process. Robin sequence (Photograph
courtesy Dr Ramesh Bhatt, Manipal)
Pathology
Hypoplasia of mandible causes foreshortening of floor of mouth and reduction of size of the
oral cavity. As a result there is tendency to glossoptosis, which may alter the development of
the palate and lead to a posterior cleft or a high arched palate.
196 Spotters in Pediatrics
Associated Anomalies
Forty percent cases are seen as isolated robin anomalad. In 36 percent one or more anomalies
are associated. In 25 percent cases it is associated with known syndrome.
A B
Figs 8.16A to B: Albinism (A) Tyrosinase negative albinism which is characterized by white hairs (B) Tyrosinase
positive albinism, which is more common type, characterized by reddish blonde hairs
Albinism can be separated into those individuals with only eye involvement (Ocular albinism)
and those with eye, skin and hair abnormality (Oculocutaneous albinism OCA). There are
four classes of OCA, with multiple subsets in each class.
The gene locus is in chromosome 15q for tyrosinase – positive albinism (TPA) and in
chromosome 11q for tyrosinase negative albinism (TNA).
Hair bulb incubation test: It is a laboratory method for identifying TPA and TNA types of
albinism. Incubation of hair bulb in L- tyrosine 1mg/ml in 0.1 M phosphate buffer at pH 6.8.
In TPA, melanin production is detected in the hair bulb, in TNA no melanin production is
detected.
Classification of OCA-
• Tyrosinase related OCA1
• No tyrosinase activity OCA1A
• Residual tyrosinase activity
• Yellow OCA 1B
• Minimal pigment OCA1MP
• Unusual tyrosinase activity
• Temperature sensitive OCA1TS
• Tyrosinase positive OCA2
• Prader Willi/Angelman syndrome
Genetic 197
• Clinically color of skin is pink to cream. Hairs are cream to brown color in TPA and
snow-white color in TNA. Ocular manifestations are blue to brown iridae, photophobia,
nystagmus, diminished visual acuity, strabismus.
• Complications—It is in the form of sun burn and skin cancers.
• Treatment—Avoid sun exposure and adequate application of sunscreen before exposure
to sun. Surveillance of skin cancer and genetic counseling.
ETIOLOGY
Autosomal recessive. The primary defect is an absence of lysosomal hydrolase alpha-L
iduronidase (IDUA), it is responsible for degradation of the glycosaminoglycans, heparan sulphate
and dermatan sulphate. The IDUA gene is mapped to chromosome 4p16.3.
PERFORMANCE
Marked mental retardation, normal at birth with progression to syndromic features and
increasingly severe developmental delay.
KEY FEATURES
Scaphocephalis macrodactyly, coarse facies, anteverted nostrils, depressed nasal bridge,
hypertelorism, corneal clouding, enlarge lips claw hands, hernias (umbilical, inguinal).
A B C
Figs 8.17A to C: Hurlers syndrome. (A) A five-year-old child with coarse facies, macrocephaly, thick lips,
limitation of extension of both upper and lower limbs (B) X-ray lumbar spine, short and anterior wedging of
thoracolumbar vertebrae. (C) X-ray wrist—note the proximal tapering of the metacarpals, coarse trabaculation
and irregular epiphysis
198 Spotters in Pediatrics
Other Features
Open mouth, nasal discharge, macroglossia, thick gums, abnormal placed teeth, kyphosis,
short neck, gibbus, hirsutism, hepatosplenmegaly, pectus carinatum and excavatum, characteristic
X-ray finding with coarse trabaculation.
DIAGNOSIS
It is confirmed by clinical diagnosis and biochemical investigation. The excretion of dermatan
sulphate and heparan sulphate in urine, and the absence of alpha- L–iduronidase in fibroblast
culture. Antenatal diagnosis is possible by detection of alpha-L-iduronidase level in amniotic
fluid cells.
INCIDENCE
1 in 40,000
Types
Type A- Severe form of the disease. There is deficiency of enzyme N-acetylgalactosamine-
6-sulphatase. Type B is mild form of disease. There is deficiency of Beta galactosidase enzyme.
ETIOLOGY
Autosomal recessive. The type A has been linked to chromosome 16q24.3, type II Morquio’s
syndrome is linked to chromosome 3p21.33.
A B
Figs 8.18A and B: Morquio’s syndrome (A) Seven-year-old patient with short neck, short trunk, pectus
carinatum, coarse facies, genu vulgus, kyphosis (B) X-ray spine lateral view note the generalized platyvertebrae
Genetic 199
PERFORMANCE
No mental retardation, normal at birth with progression to syndromic features, shortened life
span.
KEY FEATURES
Mildly coarsened features, (not always present), broad mouth, short neck, with restricted
movement, pectus carinatum, short stature, short trunk, marked platyspondyly, with vertebrae
changing to ovoid with anterior projection, knocked knees.
Other Features
Short anteverted nose, cloudy cornea (late in first decade of life), abnormal teeth (pitting and
enamel hyperplasia), hepatomegaly, short/stubby hands, joint laxity, scoliosis, lumbar lordosis,
tendency to C1-C2 dislocation (with spinal cord compression), progressive hearing loss, aortic
regurgitation (later in life).
DIAGNOSTIC CONFIRMATION
Depends upon two- dimensional electrophoresis or thin-layer chromatography of isolated urinary
glycosaminoglycans. False negative test are seen for urinary mucopolysaccharides, therefore
the deficiency of enzymes in cultured fibroblasts or leukocyte is more specific for confirmation
of diagnosis. Prenatal diagnosis is possible using both amniotic fluid cells and chorionic villi.
INCIDENCE
One in 250,000 to 1 in 4,000,000.
ETIOLOGY
Most cases are sporadic. Although there have been a few reports of affected siblings.
PERFORMANCE
No MR Life span in most cases ranges from 12 to 13 years and is due to possible complications
such as atherosclerosis (myocardial infarction or stroke).
KEY FEATURES
Alopecia onset between birth and 18 years. Skin is thin dry, warm (early skin is described as
scleroderma, i.e. thick and inelastic). Facial hypoplasia, with marked micrognathia, thin nose
with sculpted appearing tip, loss of subcutaneous fat (cheeks and pubic area are last to be lost),
head appears large for face, open fontanel’s, joints are stiff and partially flexed, growth
deceleration 9 between 6 months and 18 months).
200 Spotters in Pediatrics
A D
Figs 8.19A to D: Progeria (A) Six-year-old boy with alopecia, deficient growth, facial hypoplasia, micrognathia,stiff
and partially flexed prominent joint “Horse riding stance” (B) Skin thin with sclerodermatous changes, nails
hypoplastic, brittle curved and yellowish (C) X-ray hip joint coxa vulga (straight femur) (D) X-ray chest—Absent
clavicle
OTHER FEATURES
Typical early sign (mid facial cyanosis), delayed dentition, high-pitched voice, prominent eyes,
thin lip, dystrophic nails (thin, short, and small), and prominent appearing joint. Skin develops
brown spots and pigmentation.
DEFINITION
It is association of non-random defect of the first and second branchial arch, associated with
vertebral and ocular anomalies. These abnormalities are asymmetric and 70 percent cases are
unilateral involvement.
INCIDENCE
The frequency of occurrence is estimated to be 1 in 3000 to 1 in 5000, and there is slight (3:2)
male predominance.
Genetic 201
A B
Figs 8.20A and B: Goldenhar syndrome (A) (B) Bilateral limbal dermoid,
hemifacial microsomia left half of face, ear abnormalities
CLINICAL ABNORMALITIES
Face is affected asymmetrically, with ears small and malformed, pre-auricular skin tags. Cervical
and vertebral anomalies are common. Epibulbar dermoid is important diagnostic feature. When
this is absent the term first and second branchial arch syndrome is used. When the face is
affected on only one side without an Epibulbar dermoid then term used as Hemifacial microsomia.
Genetic aspects: Sporadic in most cases. Occasional dominant families are described.
DEFINATION
This syndrome is describes by Meckel in 1822 and later by Gruber. The diagnostic features are
occipital encephalocele, post axial polydactyly and polycystic kidneys.
ASSOCIATED ABNORMALITIES
Includes microcephaly, hydrocephaly and anencephaly, agenesis of optic chiasma, corpus
callosum, microphthalmia, ear anomalies and others.
GENETIC ASPECTS
Autosomal recessive. The locus is been mapped to 17q21-q24.
ANTENATAL DIAGNOSIS
It is possible to detect MGS Antenatally by elevated alpha-fetoprotein level in the presence of
encephalocele. Antenatal ultrasonography demonstrates paracranial mass, polydactyly.
202 Spotters in Pediatrics
B C
Figs 8.21A to C: Meckel Gruber syndrome: (A) Huge occipital encephalocele, postaxial polydactyly
(B) Cleft lip and palate (C) X-ray revealing huge encephalocele
OBSTETRICAL MANAGEMENT
Termination of pregnancy is offered before viability. In third trimester obstetrical management
depends on amount of herniated brain, size of the defect and associated anomalies.
ETIOLOGY
Sporadic (possible from insult during second trimester).
PERFORMANCE
MR is most cases, early feeding problems.
KEY FEATURES
Coloboma (usually retinal coloboma).
Heart abnormalities (TOF, PDA, VSD, ASD).
Atresia of the choanae.
Retardation (MR and postnatal growth retardation).
Genetic 203
A B
Figs 8.22A and B: Charge syndrome (A) Coloboma of iris at 5 and 7 O’ clock position
(B) Vertical scar mark of operated VSD, with absence of left depressor angularis oris muscle
Other Features
Microcephaly, facial asymmetry, facial palsy, malar flattening, long philtrum, cleft lip palate,
small mouth, swallowing difficulties, and polyhydramnios.
SYNONYM
Acrocephalosyndactyly.
ETIOLOGY
Autosomal dominat. Most of the cases are sporadic and are associated with old paternal age. It
is caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2) which maps to
chromosome number 10a25-10q26. The recurrence risk for the unaffected parents of a child
with Aperts is negligible, whereas the recurrence risks for the affected individual is 50 percent.
KEY FEATURES
At birth all the cranial sutures are abnormal, apart from lamdoidal, and the head is tower shaped,
flat from front to back with a prominent forehead. Eyes are prominent, the nose beaked and
high arched palate. The hands are characteristic with fusion of digits two to five and sometime
including thumb. Fusion of cervical vertebrae C5-C6 is seen in 70 percent cases. 50 percent
cases shows mental retardation. There is associated polymicrogyria, hypoplastic white matter,
and hetrotropic grey matter.
204 Spotters in Pediatrics
A B C
FUTURE MANAGEMENT
Surgery is indicated for craniosynostosis when there is indication of raised intracranial
pressure.
Early surgery to release the thumb to allow pincer grasp is recommended.
Hearing assessment to be done to detect hearing loss.
Facial and cosmetic reconstruction by plastic surgeon.
A C D
Figs 8.25A to D: Kabuki make-up syndrome. (A) 4 years old female patient with characteristic facial feature like
tenting eyebrows, everted outer one third lower eyelids, long palpebral fissure (B) open mouth with tented upper
lip. (C) Note the prominent fingertips (fetal pads). (D) Plain X-ray of hip joint displaying dislocated right femoral
head with pseudoarthrosis
TREATMENT
Allopurinol is used to reduce the hyperuricemia and thus, renal damage is prevented. For self-
injurious behavior resperidone is tried, to allay the anxiety diazepam has been tried, and
carbamazepine or gabapantene as mood stabilizers.
A B C D
Figs 8.26A to D: Lesch-Nyhan syndrome (A) (B) Picture depicts the extent of facial injury caused
by self-injurious behaior (C) (D) Depicts the choroathetoid movement exhibited by patient
A B C
Figs 8.27A to C: Poland sequence (A) (B) Left Poland sequence
(C) X-ray showing Hypoplastic left limb with digital defects
Genetic 207
OSTEOPETROSIS
(ALBERS-SCHÖNBERG SYNDROME) (Figs 8.28A and B)
A B
This is one of the important bone dysplasia displaying increased bone density. There are two
types of osteopetrosis.
• Autosomal recessive (OMIM 259700)13
• Autosomal dominant (OMIM 166600)
Most of the clinical features due to failure to remodel growing bones. This leads to narrowing
of cranial nerve foramina and encroachment of marrow space, which results in secondary
complications such as optic nerve dysfunction, anemia.
From birth the bones are sclerotic with poor modeling giving appearance of ‘bone within
bone appearance’. There is microcephaly, square shaped head, frontal bossing, ptosis and
strabismus.
Treatment: Bone marrow transplantation is successful in some patient. Calcitrol and interferon
gamma has been used with some benefit. Rest all symptomatic treatment.
A B
Figs 8.29A and B: Potter syndrome (A) Squashed facies, depressed nasal
bridge, low set ears (B) Fullness of abdomen, omphalocele
A B C
Figs 8.30A to C: Fibular hemimelia. 14 (A) Fibular hemimelia of right limb, note the absent lateral rays, and a
cutaneous dimple corresponds to pseudoarthrosis of tibia (B) Fibular hemimelia of right foot in a newborn. (C) X-
ray depicting pseudoarthrosis of tibia and absent fibula. R ef- Indian Pediatrics 2003; 40:359, with permission.
A C
Figs 8.32A to C: Bardet-Biedl syndrome (A) Note the obesity polydactyly and
hypogonadism (B) Postaxial polydactyly and syndactyly (C) Hypogonadism
A B
Figs 8.33A and B: Vater syndrome (A) Neonate with VATER anomalies
(B) X-ray showing vertebral defect, imperforate anus
Genetic 211
Most of these patients have normal brain function, hence, merit vigorous attempts towards
rehabilitation, surgical and otherwise.
Etiology: Idiopathic mostly, sporadic instances seen in family. More frequently seen in
offsprings of diabetic mothers.
Clinician should note that similar anomalies with more broader pattern are seen in trisomy
18 or del (13q) syndromes, Holt-Oram syndrome and VATER with hydrocephalus, the
prognosis in such cases are guarded. One must rule out their presence before framing the
prognosis.
Fig. 8.35: Milroy’s disease. 3 months old infant with bilateral lower limb edema with hypertrophy of penile skin
(Photographs coutesy: Dr Alok Purohit and Dr Sagori Mukhopadhyay (SMS) Hospital Jaipur)
212 Spotters in Pediatrics
A B
Figs 8.36A and B: Macrodystrophia lipomatosa18 (A) Macrodystrophia lipomatosa of second toe of right
foot (B) X-Ray of right foot showing localized gigantism of 2nd metatarsal and digits and lipomatosa
around it
Radiographic examination demonstrates macrodactyly including the soft tissue and the bone.
The trabeculae are normal. T1–weighted coronal MRI image shows marked proliferation of
adipose tissue. A high signal linear structure with low signal rim along the involved areas
may correspond to a thickened nerve.
Macrodystrophia lipomatosa should be differentiated from other causes of congenital
macrodactyly, hemangioma, Klippel-Trenaunay-Weber syndrome, Ollier’s disease and Proteus
syndrome.
MAYER-ROKITANSKY-KUSTER-HAUSER
SYNDROME19–22 (Figs 8.37A to D)
The MRKH is comprised of vaginal atresia with other Müllerian (i.e., paramesonephric) duct
abnormalities, skeletal abnormalities and renal abnormalities. MRKH is characterized by Müllerian
duct structures agenesis, in genetically, phenotypically and developmentally normal (46XX)
females. It usually remains undetected until the patient presents with primary amenorrhea despite
normal external development. The MRKH is the most common congenital cause of primary
amenorrhea. Although this condition has psychologically devastating consequences, its
physiological defects can be treated surgically. Following diagnosis, surgical intervention allows
patients to have normal sexual function. Reproduction may be possible with assisted techniques.
Incidence statistics vary from 1: 4000 (at birth) to 1:20,000 at female hospital admissions.
EMBRYOLOGY
Around the fifth gestational week, the müllerian ducts stop developing. The skeleton, derived
from the embryonic mesoderm, is vulnerable to developmental disturbances at this time. The
Genetic 213
A B
C D
Figs 8.37A to D: MRKH syndrome: (A) Apparently a pair of ill developed labia majora like structure seen on
standing posture with a protruding mass similar to hypertrophied clitoris was found overhanging the external
genitalia. (B) Congenital absence of thumb. (C) Congenital kyphoscoliosis and absence of widening of pelvis in
the late adolescence. (D) External urethral meatus covered by a structure resembling labio-scrotal folds containing
adequate amounts of rugae with a raphe mimicking the texture of scrotal skin, fused at upper end with a whirling
pattern resembling clitoris. Photographs by Dr Ranbir Pal and Dr Ankur Barua, Sikkim Manipal Institute of Medical
Sciences
uterus, cervix, and upper 75 percent of the vagina form from the fused caudal ends of the
Müllerian ducts. Fallopian tubes develop from the unfused upper ends; the renal system
simultaneously develops from the wolffian ducts. Ovarian function is preserved because the
ovaries originate within the primitive ectoderm, independent of the mesonephros. A gene
responsible for MRKH has not been identified.
COMPONENTS
1. Absence of vagina and rudimentary cornua uteri but morphologically normal ovaries and
fallopian tubes. External features and ovulation are normal but the woman is amenorrheic
and infertile.
2. Urinary tract anomalies, most common being renal agenesis, ectopia and fusion, occurs in
about one-third cases.
3. Skeletal abnormalities are seen in 12 percent cases, 2/3rd of them being abnormalities of
spine, limb and rib. A term MURCS association has been coined to denote Müllerian duct
aplasia, renal aplasia and cervicothoracic somite association (Klippel-Feil type). Other
abnormalities such as congenital heart conditions and inguinal hernia may also be associated.
214 Spotters in Pediatrics
PRESENTATION
Primary amenorrhea and cyclic abdominal pain are common. The patient undergoes puberty
with normal thelarche and adrenarche; however, menses do not begin. Because ovarian function
is normal, patients experience all bodily changes associated with menstruation. On examination,
height is normal. The vulva, labia majora, labia minora, and clitoris are normal. Speculum
examination of the vagina may be impossible or difficult because of the degree of vaginal
agenesis.
Infertility Patients who do not undergo evaluation for primary amenorrhea often seek clinical
attention for infertility.
Inability to have intercourse. The more shallow the vaginal canal, the greater the likelihood
of the patient having dyspareunia. Some patients present with a history of voiding difficulties or
recurrent urinary tract infections.
WORK-UP
1. Lab studies: Chromosomal analysis is essential to exclude karyotypic abnormalities of the
X chromosome (e.g., Turner’s syndrome). Other chromosomal aberrations may include a
46, XY karyotype, suggesting a form of androgen insensitivity syndrome. Normal circulating
levels of human chorionic gonadotropin (HCG), luteinizing hormone (LH), and follicle
stimulating hormone (FSH) indicate appropriate ovarian function.
2. Imaging studies
• Sonography: Sonography easily depicts the upper level of the vagina and the length of its
obstruction. It can identify uterine duplications and tubal obstruction. It can rule out a
hydrocolpos or a hydrometrocolpos. It simultaneously assesses the kidneys and bladder.
• Magnetic resonance imaging: MRI provides excellent images of superficial and deep
tissue planes, cavitation of the uterus and presence of a cervix.
• Laparoscopy: Laparoscopy provides only indirect assessment of uterine cavitation. It is
useful when uterine remnants or endometriosis cause cyclic pelvic pain requiring excision.
MANAGEMENT
The ideal repair provides the patient with an unscarred vagina that allows sexual functioning.
Excision of uterine anlage can also prevent endometriosis and resultant ovarian function
impairment. Frank technique or perineal dilation is the only nonsurgical option and is successful
only in patients with a long rudimentary vagina. Patients apply progressive pressure to the
perineum using a bicycle-seat stool to hold a dilator in place. Compliance is often poor. The
surgical options used are basically to create a neovagina using local skin flaps or/and bowel.
The condition has tremendous psychological impact and the help of a psychiatrist is required.
PROGNOSIS
The patient may have normal sexual functioning after surgical reconstruction. However,
conception cannot occur without the aid of artificial techniques.
Genetic 215
GENETIC COUNSELING
(Courtesy: Dr Amar Verma, Asso. Prof. Pediatrics
Medical College Ranchi, Jharkhand)
DEFINITION
In defining the role of the genetic counselor, it is useful to first define genetic counseling. The
definition use by the American Society of Human Genetics (1975) is very comprehensive.
The American Society of Human Genetics defines2 genetic counseling as a communicative
process which deals with the human problems associated with the occurrence or risk of
recurrence of a genetic disorder in a family. This process involves an attempt by one or more
appropriately trained persons to help the individual or family to: (i) Comprehend the medical
facts including the diagnosis, probable course of disorder and the available management; (ii)
Appreciate the way heredity contributes to the disorder and the risk of recurrence in relatives;
(iii) Understand the alternatives for dealing with the risk of recurrence; and (iv) Choose the
course of action which seems to them appropriate in view of this risk, their family goals, ethical
and religious standards and to act in accordance with that decision to make the best possible
adjustment to the disorder in an affected family member and/or to the risk of recurrence of that
disorder.
The four main components of the role relate to:
1. Communication with clients, both to obtain the family medical history necessary to provide
the client with reliable information, and convey the genetic information in a meaningful and
clear way.
2. Client support, particularly at times of decision-making or particular stress, e.g. after a new
diagnosis has been made in the family.
3. Education of clients and other health professionals.
4. Skills, which enable the genetic counselor to interpret research findings for the benefit of
clients, and to support or conduct appropriate research.
The person who seeks genetic counseling is called the consult and or counsele and the one
who gives it is the counselor. In addition to medical specialists, trained persons with various
backgrounds like nursing, social work education and psychology can function as genetic
counselors.
From the definition, it is clear that the objective of genetic counseling is to make the individual
or the family to understand the scientific information about the disease, thus helping them to
cope with the problem of genetic disorder and to reach a reproductive decision.
Pedigree
Next the pedigree (at least 3 generations) is constructed using standardized set of symbols.
Direct questions need to be asked for similarly affected individuals, miscarriages, early deaths,
consanguinity, major and minor malformations.
Examination
A complete physical examination and relavent anthropometric measurements are necessary. In
a case with dysmorphology correct description of facial features, minor malformations, normal
variants need to be noted down. A photographic record of dysmorphic child is essential as it is
much better than a lengthy description. Examination of parents may be needed to verify whether
a dysmorphic feature (e.g., shape of ears) is of diagnostic significance or a normal familial
feature in that family.
DNA Diagnosis
As more and more disease related genes are getting mapped and sequenced, the DNA diagnostic
tests are becoming available for single gene diseases. Currently DNA diagnosis for Thalassemia,
Hemoglobinopathies, Hemophilia, Duchenne muscular dystrophy, Fragile-X-mental retardation
and Spinal muscular atrophy are available in India. For providing prenatal diagnosis, the DNA
diagnosis of the affected child in the family needs to be done before hand.
Syndrome Diagnosis
Multiple malformation syndromes with or without mental retardation is an important group of
patients needing genetic counseling. With an evergrowing list of syndromes, reaching an exact
diagnosis may be difficult. The situation is greatly helped by various computerized databases,
218 Spotters in Pediatrics
namely, London Dysmorphology Database and Pictures of Standard Syndromes and Undiagnosed
Malformations (POSSUM). Referring to the books giving detailed descriptions of syndromes
and diagnostic approaches is also of great help.
Counseling
Accurate diagnosis is of paramount importance for meaningful genetic counseling. Other requisities
are a quiet, comfortable room and adequate time. The counselor should be a good sympathetic
listener with good communicative skill. He should give information in simple nontechnical and
local language. Counseling needs to include all aspects of the condition and the depth of
explanation should be matched to the educational background of the couple. Natural course of
the disease and treatment (sometimes only supportive) should be highlighted. The risk of
recurrence should be explained, if necessary with the help of diagrams. The risk, for example
1 in 4 should be explained in both ways, i.e. 1 in 4 and 25 percent. It should be made clear that
there may be 2 or 3 or more consecutively affected children in a family as chance does not have
memory. The probability can be explained by an example of tossing a coin or like. It is often
useful to compare this recurrence risk against the general population risk for the condition and
for common birth defects. It should be stressed that any family can have children affected with
genetic diseases or congenital malformations and parenting such a child or carrier status for
genetic disease is not a stigma nor should be considered a discriminating factor. A common
misconception about heredity may also need to be dispelled.
Postcounseling options-role of counselors is limited to providing options but they must
sincerely help the family during investigations and final decision.The last and the most important
part of the counseling is about reproductive options. Depending upon the parents judgment
about the risk of recurrence, they may go for contraception, adoption, in vitro fertilization or
further pregnancy with or without prenatal diagnosis. The family may need to be referred to a
genetic center for getting the latest information about the disease and facility for prenatal diagnosis.
REFERENCES
1. Anoop Verma. Short Rib Polydactyly Syndrome Type I (Saldino-Noonan Syndrome) Indian Pediatrics
2005; 42:389.
2. Saldino RM, Noonan, CD. Severe throracic dystrophy with striking microlmelia, abnormal osseous
development, including spineand multiple visceral anomalies. Am.J.Roentgenol, 1972; 114:257.
3. Nsumoff, P, et al. Short rib Polydactyly (SRP) syndrome type 3. Radiology, 1977; 122:443.
4. Majewski, F, et al. Polysyndaktylie, verkurzte Gliedmassen and Genitalfehlbildugngen: Kennzeicheneines
selbastandigen Syndrome? Z. Kinderheilkd, 1971; 111:118.
5. Mareaux P, Lamy M, Robert JM. Le nanisme thantophore. Press Meedicale, 1967; 75:2519.
6. Young RS, Pocharzevsky R, Leonicus JC, et al. Thanatophorus dwarfism and clover leaf skull
(Kleeblattschadel), Raidiology, 1973; 106:401.
7. Anoop Verma, HS Gurudatta. Jeune Syndrome; Indian Pediatrics 2004;41:954-55. With permission.
8. Scott, CI. Achondroplastic and Hypochondroplastic dwarfism; Clinical orthopaedic and related research
1976; 114:18.
9. Murdoch JL, Walker BA, Hall JG, et al. 1970. Achondroplasia- a genetic and statistical survey, Annals of
Human Genetics, 1070; 33:227.
Genetic 219
10. Salim MA, et al. Effect of beta-adrenergic blockade on aortic root rate of dilatation of in the Marfan
syndrome. Am.J. Cardiol 1994; 74:629.
11. Anoop Verma Disorganization-like Syndrome Indian Pediatrics 2003; 40:268. With permission.
12. Smith Recognizable Pattern of Human Malformations, 5th edition, Poland Sequence page 302.
13. Nelsons Text book of pediatrics, 17th edition, Chapter 687, Osteopetrosis, 23333.
14. Anoop Verma, Shirish Yadu; Fibular hemimelia Indian Pediatrics 2003; 40:359. With permission.
15. Anoop Verma, Nirved Jain. Proboscis Lateralis Indian Pediatrics 2005; 42:607. With permission.
16. Smiths Recognizable Pattern of Human Malformation, 5th edition, Bardet-Biedle Syndrome page 590.
17. Color atlas of Congenital Malformation Syndromes, Michael Baraitser and Robin M Winter, Bardet-Biedle
Syndrome, 1996; 162.
18. Anoop Verma, Yadu S. Macrodystrophia lipomatosa, Indian Pediatrics, 2003; 40(17):363-64. With
permission.
19. Graziano K, Teitelbaum DH, Hirschl RB: Vaginal reconstruction for ambiguous genitalia and congenital
absence of the vagina: A 27-year experience. J Pediatr Surg 2002; 37(7):955-60.
20. Rosenberg HK, Sherman NH, Tarry WF: Mayer-Rokitansky-Kuster-Hauser syndrome: US aid to diagnosis.
Radiology 1986; 161(3):815-9.
21. Tolhurst DE, van der Helm TW: The treatment of vaginal atresia. Surg Gynecol Obstet 1991; 172(5):407-
14.
22. Hensle TW, Kennedy WA. Abnormalities of the female genital tract. Pediatric Surgery, V edn. Ed. O’Neill,
et al. Mosby 1998; 1819-33.
23. Rimoin DI, Conner JM, Pyretiz RE (Eds): Emery and Rimoin’s Principles of Medical Genetics, 3rd Ed.
New York, Churchill Livingstone, 1997; 31:277-767.
24. Cunnigham FG, Gant NF, et al, William’s Obstetrics 21 edn. New York: Mcgraw Hill 2001; 206, 217,940:
978-79.
25. Chakravorty Amit: Screening and Diagnosis of fetal Malformation: Eds: Debdas AK – 1st Edition, 2004;
179-87.
26. Harper PS. Practical genetic counseling, 4th Edition, Butterworth-Heinmann, Oxford 1993.
27. Harper DS, Practical gnetic counseling, 4th Edition USA Butterworth Heinemann. Oxford University
Press, 1993 .
28. Phadke SR. et al, Genetic counseling in paediatric practice: Indian paediatric: vol. 36, no. 8, 1999; 789-97.
29. Emery’s elements of Medical genetics, Robert Muller, Ian Young, 10th Edition, Churchill-Livingstone:
237-43.
30. Harper PS. Practical genetic counseling : 4th Edition, Butterworth-Heinemann, Oxord.
220 Spotters in Pediatrics
Chapter
9 Miscellaneous
Conditions
SYMPTOMS
Most of the patients are diagnosed in the first two-month of age following identification of
murmur. Few patient present with severe cyanosis the first few days of life.
The classical description of severe cyanosis, hypercynotic spells and squatting on exercise
developing in late infancy is now rare.
It is important to recognize hypercynotic spells, as they may lead to myocardial infarction,
cerebrovascular accidents and even death if left untreated. They are characterized by a
rapid increase in cyanosis, usually associated with irritability or inconsolable crying, because
of severe hypoxia, and breathlessness and pallor because of tissue acidosis.
SIGN
Clubbing of the fingers and toes in older children.
Miscellaneous Conditions 221
A B
C D
Figs 9.1A to D: Tetrology of Fallot (A) Ten-year-old child with clinically obvious central cyanosis (B) Clubbing of
fingers (C) Classical X-ray finding consistent with wooden shoe or boot shaped “Coeur en sabot” heart (D)
Peculiar position in bed during sleep, similar to sqatting episode adopted by patient
A long, loud ejection systolic murmur is best heard in the third left intercostals space,
usually with single second heart sound.
As with increase in right outflow tract obstruction the murmur will shorten and cyanosis
will increase.
INVESTIGATION
Chest X-Ray
Shows upturned cardiac apex, absent pulmonary shadow at the left cardiac border, oligemic
lungs field with right aortic arch in few cases.
ECG
Shows right axis deviation and right ventricular hypertrophy.
222 Spotters in Pediatrics
Echocardiography
This will demonstrates the cardinal features. But cardiac catheterization may be required to
show the detailed anatomy of pulmonary arteries, which may be small or stenosed.
CT Scan
In case cerebral abscess is suspected.
MANAGEMENT
Palliative Surgery
Infants who becomes symptomatic in first few month. Surgery is inclined to improve pulmonary
blood flow. This is done by placement of an artificial tube between the subclavian artery and the
pulmonary artery (Modified Blalock-Taussig shunt).
Corrective Surgery
It is performed around six months of age. It involves closing the VSD and relieving right
ventricular outflow tract obstruction with an artificial patch. The operative risk is approximately
2 to 5 percent.
A B
Figs 9.5A and B: Rhinosporidiosis of conjunctiva (A) (B) Note the
sessile mass projecting out from the upper conjunctiva
Miscellaneous Conditions 225
When the face and lids are involved, it has to be differentiated from yaws, blastomycosis
and leishmaniasis. Masses of pedunculated, granulomatous polyps containing the fungus
produces painless deformities (unless there is secondary infection) any discharge. The
external ocular membrane and lacrimal passage are readily involved. Even the sclera has
been known to be infected, with the threat of perforation of the eye.
Diagnosis is made by demonstration of sporangia up to 350 mew micron in diameter in
section of excised tissue.
Treatment is essentially surgical.
A B
Figs 9.6A and B: (A) (B) Bitot’s spots
226 Spotters in Pediatrics
A B
Figs 9.9A and B: (A) Patient with unilateral nasal discharge, retracted right nostril is depicting
foreign body inside it. (B) A piece of sponge was taken out from the right nostril
A B
Figs 9.10A and B: (A) Ingestion of coin at upper esophagus. (B) Foreign body nail in the duodenum
Button batteries ingestion poses additional problems, as leaking alkali can ulcerate and
perforate the esophageal wall, and leaking mercury is toxic if absorbed. Removal from
esophagus is, therefore, important and onward passage through the gut (if the battery has
reached the stomach) should be encouraged with metachlorpram.
A B C
Figs 9.11A to C: Foreign body bronchus (A) X-ray chest of patient presented with chronic cough with no
history of aspiration, revealed collapse right lower lobe (B) In spite of an adequate antibiotic for 10 days repeat
X-ray shows almost no change, which gives us an indication for diagnostic bronchoscopy (C) Small peanut
taken out from right lower bronchus
Miscellaneous Conditions 229
• Heimlich maneuver: It involves embracing the child’s trunk from behind just below the
rib margin and producing a rapid squeeze with the object of causing a forceful expulsion
of air and foreign body from the lungs. This may be aided by holding the child upside
down. The risk of this procedure is that the foreign body may be forced from a bronchus
only as far as the trachea and result in even more severe obstruction.
Diagnosis: Foreign body impaction produces various symptoms and sign, depending on its
site, duration and extent.
• Stridor (inspiratory) and wheeze on auscultation;
• Hyper-resonance and overinflation due to air trapping;
• Displaced apex beat due to mediastinal shift;
• Collapse and consolidation if obstruction is complete and prolong.
Investigation – get an X-ray chest PA view in inspiration and expiration. The hyperinflation
of the lung fields is seen due to air trapping on the affected side in expiration. The foreign
body aspiration is much more common on right side.
Bronchoscopy – a rigid pediatric bronchoscope with grasping forceps is needed to remove
the foreign body under general anesthesia. Occasionally emergency tracheotomy is sometime
required.
Group Examples
Trauma
Infections Tuberculosis, tertiary Syphilis, typhoid, diphtheria, mucormycosis,
actinomycosis.
Neoplasia Lymphoma, carcinoma, melanoma
Collagen disease Wegener’s granulomatosis, SLE
Idiopathic Midline lethal granuloma
Other Cocaine abuse
A B C D
Figs 9.13A to D: Extravasation injury (A) Gangrene of left great toe and third toe secondary to femoral artery
puncture (B) Gangrene of toes of both feet (C) Extravasation of intravenous fluid causing injury and edema of
dorsum of hand (D) Erythema and cellulitis of temporal skin seondary to extravasation of fluid from scalp vein
needle
• Mild reaction including irritation, Erythema and swelling.
• Severe infiltration can lead to life threatening ischemia and need for amputation.
Mechanism of damage
• The extravasation of normal saline or 5 percent dextrose solution can cause irritation
and pain at the IV site but does not cause significant tissue loss.
• Tissue damage may be result of direct cellular injury. Solutions such, as hyperalimentation,
that has an osmolarity greater than serum can alter the osmotic gradient leading to
intracellular fluid overload or dehydration and subsequent cell death and necrosis.
• Potassium and Calcium are dangerous as they are not only hypertonic but also causes
precipitation of protein, leading to cell death.
• Chemotherapeutic agents often cause injury due to cytotoxic mechanism.
• Vasoconstriction leading to tissue ischemia by drugs causing vasoconstriction does cause
extravasation injury.
Immediate treatment: Once extravasation has occurred immediate treatment should be
instituted.
• IV therapy should be ceased.
• Elevate the limb. 2 percent of 1,800 extravasation injuries progressed to tissue loss if
immediately diagnosed and treated properly.
• Application of intermittent ice when combined with conservative measurement was
successful in 85 percent of injuries due to chemotherapeutic agents.
• The use of heat and ice is controversial in neonate neither is useful because of tissue
damage.
• Wound management depends on whether there is full thickness (with or without eschar
formation) or partial-thickness tissue loss, characterized by blistering and discoloration.
• Silver sulfadiazine is advocated for both partial and full thickness wounds. Betadine and
normal saline dressings can also used.
More aggressive intervention: Some author advocates the measure to counteract the effects
of the extravasated material or physically removes from the tissue.
• Despite a sizable body of literature, the use of antidote to infiltrated therapeutic agents
remains controversial. The table lists the accepted treatment for number of frequently
extravasated medication. Hyluronidase, phentolamine and nitro-glycerine are the most
common.
232 Spotters in Pediatrics
HYALURONIDASE
It is an enzyme that degrades interstitial bonds, thus facilitating diffusion and absorption of
the extravasated fluid.
It is used to counteract wide variety of infiltrated substance.
The usual dose is 15 U/ml administered in aliquots of 0.2 mL around the periphery of the
area of infiltration.
PHENTOLAMINE
An alpha-adrenergic antagonist that has shown to counteract the vasoconstrictive effects of
infiltrated vasopressor such as dopamine and dobutamine.
The dose is 5-10 mg/10 ml of normal saline injected in 0.5 mg aliquots.
NITROGLYCERIN
Topical nitroglycerin has been shown to counter act the vasoconstrictive contribution to
tissue necrosis.
The dose is 4 mm of 2 percent ointment per kg body weight.
Treatment of specific infiltrated substance2
*Soft Tissue infiltration injury 412-424—Manual of Neonatal Surgical Intensive Care, AR Hansen and M Puder,
2003.
Miscellaneous Conditions 233
INTRAOSSEOUS TRANSFUSION (Fig. 9.14)
This provides fast and reliable vascular access in critically ill children. It remains available even
in shock and is indicated in an emergency when other methods are unavailable or unsuitable e.g.
in burns cases. Guidelines are that during CPR in children aged < 6 years should obtain
intraosseous access if cannot achieve reliable venous access after three attempts or 90 secs,
whichever comes first. Intraosseous access has the same benefits in children over 6 years but
access to the anterior tibial marrow is more difficult and other sites such as the lower femur,
iliac crest or sternum should be considered.
Fig. 9.14: Intraosseous transfusion in an 11-month-old patient presented is shock due to dehydration
Complications are rare and include subcutaneous fluid leakage, extravasation from the
puncture site, damage to the bone and infection.
Relative contraindications include fractured limb, local infection or osteomyelitis severe
bone disease, especially osteogenesis imperfecta.
Can achieve high flow rates especially if using a syringe to infuse fluid.
Can give all resuscitation fluids except bretylium.
Gaining intraosseous access: Ideally a sterile procedure using a custom designed needle. However,
can use bone marrow aspiration needle or any 14-20-gauge needle with an internal stylus in an
emergency.3,4
Palpate the access site 2-3 cm distal to the tibial tuberosity on the flat medial surface of the
tibia.2
Prepare skin and infiltrate with lignocaine, if necessary.
Advance needle at 90 degrees through the bone cortex using firm pressure and a rotary
motion (entry into the marrow cavity is felt as a loss of resistance).
Confirm placement by flushing with saline, which should produce free flow with no evidence
of subcutaneous extravasation.
Connect to infusion set with a short extension and three-way tap to reduce traction on
needle. Immobilize access with a dressing and tension relief with adhesive tape between
legs and infusion set.
Obtain venous access as soon as adequate resuscitation achieved.
234 Spotters in Pediatrics
Difference in Sickle Cell Trait and the Different Types of Sickle Cell Disease?
Sickle trait can have microscopic hematuria or slight increase in kidney infections. Individuals
with sickle trait can have pain if they go to very high altitudes, greater than 12,000 feet. Other
than these uncommon problems, there should be not health problems from sickle trait. Individuals
with sickle trait may have children with sickle cell disease if their partner also has sickle,
thalassemia, or hemoglobin C trait. People with sickle trait have one gene making HbS and one
gene making HbA, so one would expect equal amounts of HbS and HbA in the RBC. The
unstable property of HbS, however, means that not the entire amount of HbS made in the red
blood cell (RBC) stays floating around in the RBC, because some of the HbS decomposes.
Therefore, the RBC contents for a person with sickle trait has slightly less than 50 percent HbS,
typically something like 55 to 60 percent HbA and 40 to 45 percent HbS. The predominance of
Miscellaneous Conditions 235
HbA inhibits and dilutes the ability of HbS to show its polymerization property, and so sickle
trait is not a form of sickle cell disease. People with sickle trait have no anemia, no painful
episodes, no special susceptibility to infection, and no implications for life expectancy.
Symptoms
The clinical course of sickle cell anemia does not follow a single pattern; some patients have
mild symptoms, and some have very severe symptoms. The basic problem, however, is the
same: the sickle-shaped red blood cells tend to get stuck in narrow blood vessels, blocking the
flow of blood. This results in the following conditions:
Hand-foot Syndrome
When small blood vessels in hands or feet are blocked, pain and swelling can result, along with
fever. This may be the first symptom of sickle cell anemia in infants.
Fig. 9.16: A patient with Sickle cell disease had severe abdominal pain. Surgeon thought it due to acute
appendicitis. He was operated and pain did not disappear after surgery. He was referred for expert opinion. He
was a case of Sickle cell disease (SS) with painful crisis. He recovered with medical line of treatment
236 Spotters in Pediatrics
Fig. 9.17: On right is an elder brother with SS, he is primary teacher. Younger sib also has SS, he studies in 9th
std. Family responsibility lies with elder one alone. Parents are old. Economic crisis is a major threat for regular
follow-up
A B
Figs 9.18A and B: Sickle cell arthropathy (A) Look at bent little finger on both side.
(B) Shortening of left lower limb due to avascular necrosis of head femur
Eye Problems
The retina can deteriorate when it does not get enough nourishment from circulating red blood
cells. Damage to the retina can be serious enough to cause blindness.
Jaundice
Jaundice is seen due to chronic hemolysis.
Delayed growth and puberty in children – is caused by chronic anemia.
Miscellaneous Conditions 237
MANAGEMENT ISSUES6
Acute illness in sickle cell disease: Acute illness is characterized by any of the following sign
and symptoms listed below.
1. Temperature > 38.5°.
2. Pain inadequately relieved by home measures.
3. Significant respiratory symptoms.
4. Abdominal pain, distension and acute enlargement of spleen.
5. Any neurological sign and symptoms.
6. Significant increase in pallor, fatigue or lethargy.
7. Priapism episode persisting > 3-4 hr
8. Significant diarrhea and vomiting.
Pain Management
Mild to moderate
Acetaminophen with codeine 1 mg/kg po (then q 4hr) and oral fluids.
Consider starting ibuprofen 10 mg/kg po q 6-8 h or other anti-inflammatory agent if no
contraindication present. Limit more frequent dosing to 72 hrs duration.
Moderate to severe
Morphine 0.1-0.15 mg /kg IV. Reassess the pain q 15-30 min. Patients with severe pain may
require repeated doses of morphine 0.02-0.05 mg/kg IV q 15-30 min.
Alternative analgesic such as hydromorphine 0.015-0.02 mg/kg IV may be appropriate.
Ketorolac 0.5 mg/kg (30 mg maximum dose) IV may be used. Do not use ibuprofen with
ketorolac.
Fluid of choice in prevention of Painful crisis: We recommend water as the drink of choice
during an episode of sickle cell pain. The rationales are:
1. Sickle red blood cells tend to be dehydrated,
2. Test tube studies show that adding water to the sickle red blood cell can lower the hemoglobin
concentration and decrease sickle polymer formation.
3. A study from the 1960’s showed that giving IV fluid without electrolytes (5% dextrose in
water, abbreviated D5W) or low in electrolytes (D5 1/4 normal saline) was better than IV
fluid with electrolytes for sickle cell crisis patients hospitalized for crisis.
4. Kidney damage from sickle cell makes it harder to excrete sodium than the average person,
so that continuously adding too much salt to the body may worsen the dehydration of the
sickle red blood cells and increase sickle polymer formation.
5. Too much water given IV (in the vein) may cause problems with edema of the lungs or
brain, so IV overhydration is not a good idea. A combination of IV and oral fluid intake is
preferred, because the patient’s hormonal control of thirst can keep electrolytes and volume
from getting too far out of line.
238 Spotters in Pediatrics
Fig. 9.19: In vaso-occlusive crisis liver and spleen size will decrease.
In sequestration crisis liver and spleen size will be enlarged
Miscellaneous Conditions 239
Management of acute chest syndrome: An acute chest syndrome is defined as acute illness
associated with lower respiratory symptoms, hypoxemia, or new infiltrates on CXR. It is
managed by supplementation of Oxygen to keep oxygen saturation above 92 percent. Analgesics
like acetaminophen or ibuprofen or morphine according to severity of pain. Antibiotics like
Cefotaxime or cefuroxime 50 mg/kg IV q 8 hrly if febrile. Substitute clindamycin 10 mg/kg IV
q 6 hr for known or suspected cephalosporin allergy. Strongly consider adding Vancomycin
10-15 mg/kg IV q 8 hr for severe illness like large infiltrate or pleural effusion. Consider
bronchodilator if wheezing is present. Blood transfusions and positive pressure ventilation as
per required in individual cases.
Management of acute splenic sequestration: An acute illness associated with hemoglobin 2gm/
dl or more below patient’s base line value with acutely enlarged spleen. Mild to moderate
thrombocytopenia is often present. Retics count equal or greater than base line. A low retics
count indicate coexisting aplastic crisis. Apart from the other aspects of management like
antibiotics, oxygen and vital monitoring, it is managed by transfusion of packed red cells 10 ml/
kg for hemoglobin < 4 –5 gm /dl and/or signs of cardiovascular compromise. A post transfusion
level of hemoglobin should be 8-9 gm/dl to avoid the hyperviscocity that may occur several
days’ later sequestrated red cells return to the circulation.
Hydroxyurea: The first effective drug treatment for adults with severe sickle cell anemia was
reported in early 1995, when a study conducted by the National Heart, Lung, and Blood Institute
showed that daily doses of the anticancer drug hydroxyurea reduced the frequency of painful
crises and acute chest syndrome. Patients taking the drug needed fewer blood transfusions.
REFERENCES
1. British Dental Journal 2005;199:267-69. doi: 10.1038/sj.bdj.4812650.
2. Care of the Critically Ill Child. Macnab A et al. Churchill Livingstone.
3. Boon JM, Gony DL, Meiring JH. Finding an ideal site for intraosseous infusion of the tibia: an anatomical
study. Clin Anat 2003;16(1):15-8.[abstract]
4. Daga SR, Gosavi DV, Verma B. Intraosseous access using butterfly needle. Trop Doct 1999;29(3):142-
4.[abstract]
5. Platt OS, Brambilla DJ, Rosse WF, et al. Mortality in sickle cell disease- Life expectancy and risk factors
for early death. N Engl J Med 1994; 330(23):1639-44.
6. Anupam Sachdeva, Dr SP Yadav, Dr NK Pati, Dr Bharat R Agrawal. Draft Guidelines for the management
of Sickle Cell Disease in Children and Adolescents, for and on behalf of Pediatric Hematology Oncology
(PHO) chapter of IAP, 2005.
7. Karlsson, S. The first steps on the gene therapy pathway to anti-sickling success. Nature Medicine 2000;
6: 139-40.
8. Lewis R. Human Genetics: Concepts and Applications, 3rd ed., 334-35, WCB/McGraw-Hill, Boston.
Index
A B hypoplasia of
Abscess 81 Baby of diabetic mother 54 depressor anguli oris
Balanoprosthitis 115 muscle 57
Achalasia cardia 94
Bardet-Biedl syndrome 209 hypothyroidism 74
Achondrogenesis 186
Barium enema, diaphragmatic
Achondroplasia 189
Acne neonatorum 53 Intussusception 104 hernia 111
Acrodermatitis Beckwith-Weideman melonocytic
enterohepatica 27 syndrome 56 nevus 40
Acyclovir 6 Bells palsy 161 ptosis 223
Acute dystonic reaction 178 Birth trauma 62 scoliosis 148
Adenoma sebaceum 154 Bitot spot 225 syphilis 60
Aganglionic megacolon, Bladder extrophy 123 twin 128
congenital 105 Blepharophimosis Cushing’s syndrome 73
Agenesis of corpus callosum syndrome 211 Cutis laxa 35
Brachydactyly 145 Cutis marmorata 48
173
Breast abscess, neonate 50 Cutis marmorata
Albendazole 12
Bullous impetigo 54 Telangiectatica
Albers-Schonbergs
syndrome 207 congenita 25
Albinism 196
C Cutis Verticis Gyratus 157
Alopecia 16 Café au lait spots 152 Cystic hygroma 84
Alopecia areata 18 Candidiasis oral 60 Cysticercosis 159
Ambiguous genitalis 78 Caput succedaneum 49
Amniotic band 58
Cataract 223 D
Cephalohematoma 48 Dermatofibroma 40
Anagen effluvium 17
CHARGE syndrome 202
Anaphylactoid purpura 20 Dermatographism 39
Chickenpox (varicella) 4
Anencephaly 171 Dermatitis
Circumcision 116
Angelman syndrome 166 atopic 15
Claustradium tetani 9
Anogenital wart 7 seborrheic 22
Clavicle fracture 62
Anorectal malformation 108 Dermoid cyst 83
Cleft lip 87
Anus-Imperforate 108 Cleft palate 87 Diaphragmatic hernia 111
Apert’s syndrome 203 Cliniodactyly 180 Digital abnormalities 144
Aplasia of depressor anguli Club foot 143 Disorganization-like
oris muscle 57 Collodion baby 32 syndrome 204
Arachnodactyly Marfan Coloboma 202 Down syndrome 179
syndrome 194 Collar-stud abscess 8 Drug reaction
Ascaris lumbricoides 12 Condylomata accuminata 7 erythema multiforme
Asphyxiating thoracic Congenital major 18
dystrophy 188 cataract 223 erythema multiforme
Asymmetric crying facies 57 club foot 143 minor 18
Ataxia telangiectasia 156 club hand 144 Duodenal atresia 97
Atopic dermatitis 15 Hypertrophic Duchenne muscular
Autoimmune thyroiditis 76 pyloric stenosis 95 dystrophy 167
242 Spotters in Pediatrics