ii

iii
Pediatric Surgery
Case snippets & Images

Dr. V.R. Ravikumar

Retired Professor of Pediatric Surgery,
Coimbatore Medical College, Coimbatore.

Edited by
Dr.RameshBabu
Professor of Pediatric Urology,
Sri Ramachandra Institute of Higher Education &
Research, Chennai

iv
 Contents
Preface ......................................................................................... 1
1. Case snippets ........................................................................... 3
Case 1. Leucocyte adhesion deficiency with multiple ulcers in
a neonate. ................................................................................. 3
Case 2 Bardet-Biedl syndrome initially presenting as
McKusick-Kaufman syndrome................................................ 6
Case 3. Human papillomavirus infection in newborn ........... 10
Case 4. Rhabdomyoma of the right atrium in a newborn ...... 13
Case 5. Hurler syndrome with surgical complications .......... 17
Case 6. Biliary ascites due to spontaneous perforation of bile
duct with pseudo choledochal cyst. ....................................... 22
Case 7. Ankyloblepharon filiforme adnatum with cleft lip ... 28
Case 8. Heterotopic salivary gland with salivary fistula in the
neck........................................................................................ 32
Case 9. Reversed rotation of kidney with hydronephrosis .... 36
Case 10. Congenital constriction band presenting as
impending gangrene of hand at birth – A rare presentation .. 40
Case 11. Spontaneous healing of a large abdominal wall defect
in a road traffic accident, and the use of Bogota bag method as
temporary closure in abdominal compartment syndrome in
congenital diaphragmatic hernia. ........................................... 45
Case 12. Caffey’s disease in a four-month-old child. ............ 51
Case 13. Internal carotid artery aneurysm in a five-year-old
boy ......................................................................................... 55

v
Case 14. Adrenal adenoma in a girl with congenital adrenal
hyperplasia .............................................................................59
Case 15 Question mark ear - Cosman ear ..............................63
Case 16. Congenital torticollis due to right coronal synostosis
of cranium ..............................................................................69
Case 17. Cranial migration of Ventriculo peritoneal shunt -
retrieval by infant cystoscope .................................................74
Case 18. Two cases of gastric perforation in New-born with
scrotal pneumotocele ..............................................................78
Case 19. Congenital diaphragmatic hernia left side with
intrathoracic renal ectopia ......................................................84
Case 20. Large Prostatic utricles in non hypospadiac infants 90
Case 21. Meconium peritonitis presenting as post neonatal
intestinal obstruction in children ............................................96
Case 22. Intraluminal calcification of meconium in the bowel
of newborn ...........................................................................102
Case 23. Congenital adrenal hyperplasia with virilisation due
to 3β-Hydroxy steroid dehydrogenase deficiency in twins ..106
Case 24. Juvenile granulosa cell tumour of the ovary with
precocious puberty in a six-month-old child ........................111
Case 25. Pseudo penile appendages in girl children
masquerading as ambiguous genitalia ..................................115
Case 26. Ankyloglossia superior in a child with cystic partially
differentiated nephroblastoma. .............................................119
Case 27. Anterior urethral diverticulum and valves .............124
Case 28. Female epispadias: Single stage correction of urethra
with continence procedure ...................................................134
Case 29. Forme fruste choledochal cyst with stent induced
duodenal perforation ............................................................138

vi
 Case 30. Morgagni hernia masquerading as cardiac lesions in
children ................................................................................ 144
Case 31. Congenital and acquired H type of recto vestibular
fistula in children ................................................................. 149
2. Images.................................................................................. 156
1. Congenital anomalies of nose with associated
malformations. ..................................................................... 156
2. Exstrophy variants with long term follow-up of a girl with
covered exstrophy ................................................................ 165
3. Identical congenital lesions in twins. ............................... 169
4. Gastro intestinal cysts ...................................................... 174
5. A pictorial illustration of Rhabdomyosarcoma (RMS) in
children ................................................................................ 186
6 Pictorial illustration of some rare neural tube defects. ..... 193
7. Severe Popliteal Pterygium syndrome and Pterygium of the
thighs with total penoscrotal transposition in two different
children. ............................................................................... 210
8. Macroglossia.................................................................... 212
9. Congenital Epulis in three children and Ameloblastoma in a
girl........................................................................................ 219
10. Vaginal cysts in children ............................................... 222
11. Chapter Necrotising enterocolitis with perforation of
bowel with multiple sub serosal air pockets in bowel--a rare
sight on the operation table. ................................................. 227
12. Exomphalos major with ventral hernia : Review after 34
years..................................................................................... 229
13. Rare lesions ................................................................... 233
14. Classic ureteral valve producing hydronephrosis in a
solitary kidney. .................................................................... 247
vii
15. Spontaneous rupture of biceps femoris tendon in a girl
child. .....................................................................................250
16. Aspergillosis infection in the kidney of a newborn child.
..............................................................................................253
17. Necrotising fasciitis in newborn and older children .......256
18. Scrotalisation of the undescended testis. ........................260
19. A pictorial representation of vascular anomalies ...........264

viii
 Preface
The book “Case snippets and images in pediatric surgery” is a
compendium of clinical material collected over several decades.
Some were published but due to lack of follow-up, lab testing,
consent for surgery, being single case report etc many could not
be published.

Many were seen in seventies and early eighties when access

to journal for references was very difficult. Some of the
anomalies that were seen are extremely rare and might help
younger surgeons to acquaint themselves with these anomalies
when they see them for the first time.

I have made them into two parts. In part one they are written
as conventional case reports, part two images where a brief
account of the condition is given and more like an atlas of rare
anomalies. There are about 200 odd illustrations with nearly 400
images in them. Even if the text is not read completely, just
brushing through the images may enlighten one on the subject. It
has been made as e-book, available for reading wherever you go,
a more enriching experience than plain text. The success of this
venture will embolden many seniors with plenty of unpublished
but useful data to come out in an e-book format for the benefit of
pediatric surgeons.

I hope the rendition of the case reports in this format is useful

for the readers. I thank Professor Ramesh Babu for guidance to
bring it into a book format and editing it and Prof.
RamkumarRaghupathy, for helping to fine tune the articles.

1
V.R.Ravikumar.
Retd Professor of Pediatric surgery,
Coimbatore Medical college hospital, Coimbatore

2
 1. Case snippets
Case 1. Leucocyte adhesion deficiency
with multiple ulcers in a neonate.
Abstract

Leucocyte adhesion deficiency is a rare disorder in new-born

characterised by delayed cord separation, multiple non-healing
ulcers with leucocytosis. Diagnosis is made based on
leucocytosis and flow cytometry. There is impairment of
granulocyte function in this condition and carries a poor
prognosis. Current curative therapy is haematopoietic stem cell
transplant.
Keywords

Leucocyte adhesion deficiency, Primary immune deficiency,

leucocytosis, ITGB2 gene. Delayed cord separation

Case report.

A one-month-old sick-looking new-born child was admitted with

a history of delayed cord separation and multiple ulcers in the
body. The child was sick looking with ulceration in the
periumbilical region, left axilla, and perianal regions. There was
no pus in the ulcers. The child was investigated for acquired
immune deficiency and was normal. The leucocyte count was
one lakh. Flow cytometry showed C1118 deficiency of integrins.

Discussion

Leukocyte adhesion deficiency (LAD), is a rare autosomal

recessive disorder characterized by immunodeficiency resulting
in recurrent infections. Leukocyte adhesion deficiency (LAD) a
disorder involving both B and T cells and is characterized by an
inability of leukocytes to migrate to the site of infection to kill
3
offending microbes.1 The adhesion defects result in poor
leucocytes and chemotaxis, particularly neutrophils, inability to
form pus, and neutrophilia.

A. Delayed umbilical cord separation. B. Ulcerations in inner aspect of

right eye. C. Umbilical and peri umbilical sepsis. D. Perianal ulcer.
E. Axillary ulcer

It is divided into three subtypes - LAD I, II, and III. Patients with
LAD1 have an inherited molecular defect that causes a
deficiency of the β-2 integrin subunit, also called CD18, which is
encoded by the ITGB2 gene found on chromosome 21. LAD-II
diagnosis includes the study of different glycosylated forms of
the transferrin protein. In LAD-III, as platelet function is also
affected, this could be used to differentiate it from the other
types. Each subtype is diagnosed by genetic testing.2

Diagnosis

This disorder is characterized by delayed separation of the

umbilical cord, severe recurrent bacterial infections, impaired
formation of pus, high leukocyte counts, and abnormalities in
granulocyte-adherence dependent function. The subtypes can be
diagnosed by genetic testing. Most of the children die with
fulminant infections although patients can receive intensive
4
antibiotic therapy and even granulocyte transfusions from
healthy donors.

Treatment. The only current curative therapy is the

haematopoietic stem cell transplant.

References

1.Angel A. Justiz Vaillant; Faran Ahmad Leukocyte Adhesion

Deficiency, Star pearls Continuing educational activity NCBI
resources.

2 Robert P; Canault M; Farnarier C; Nurden A; Grosdidier C;

Barlogis V; Alessi MC (2011). "A novel leukocyte adhesion
deficiency III variant: kindlin-3 deficiency results in integrin-
and nonintegrin-related defects in different steps of leukocyte
adhesion". Journal of Immunology. 186 (9): 5273–83

Recommended reading

Amos Etzioni, MD ,Bat-Galim, Haifa,National organisation of

rare disorders NORD : Rare disease data base :LAD syndromes.
Leucocyte adhesion deficiency syndromes.

5
Case 2 Bardet-Biedl syndrome initially
presenting as McKusick-Kaufman
syndrome
Abstract.

Bardet Biedl syndrome and McKusick-Kaufman syndrome are

often confused since there is an overlap of phenotype. Here we
are presenting a child with Bardet-Biedel syndrome initially
treated as McKusick-Kaufman syndrome.

Keywords

Hydrometrocolpos; McKusick-Kaufman syndrome; polydactyly,

Bardet-Biedel syndrome, Vaginal atresia

Case report.

A new-born girl child was seen with lower abdominal swelling

with postaxial polydactyly of both feet and left hand. Clinically
it was a suprapubic cystic swelling which persisted after the
infant had voided the urine.

Neonate with vaginal atresia , Hydrocolpos, supernumerary toes and fingers

6
Clinical examination of the external genitalia showed an absence
of vaginal orifice. The suprapubic swelling was
hydrometrocolpos. A clinical diagnosis of McKusick Kaufman
syndrome (MKKS) was made.

The ultrasound showed a grossly dilated vagina with debris

containing fluid, the uterus was perched up over the dilated
vagina.

Laparotomy was done. The grossly dilated vagina was

decompressed. A Hegar’s dilator was pushed through the dilated
vagina towards the place where a normal vagina would be
present. Through a perineal incision, the vagina was dissected
and vaginoplasty was done.

The same child at 8 yr of age; Bardet- Biedl syndrome

The child was followed up for a couple of years and the vaginal
orifice was adequate.

7
The child was brought by the parents at eight years of age for
review. The girl was obese with mental retardation and defective
vision characteristic of Bardet- Biedl syndrome.Her brother had
similar features with polydactyly.

Genetic testing could not be done due to financial reasons and

both of them are being treated by a team of specialists.

Her elder brother also had postaxial polydactyly, mental retardation.

Discussion

Bardet-Biedl syndrome (BBS) and McKusick-Kaufman

syndrome (MKKS) are rare congenital disorders of autosomal
recessive inheritance. Because of the phenotypic overlap of both
syndromes, including hydrometrocolpos postaxial polydactyly in
the neonatal stage, the potential for diagnostic confusion exists
(1). In this case, the initial diagnosis was MKKS based on
vaginal atresia, Post axial polydactyly. Later follow-up showed
features of BBS with mental retardation visual problems and
obesity. So, there is a significant clinical overlap between

8
MKKS and BBS. Hydrometrocolpos and polydactyly are the
common neonatal presentation of Bardet-Biedl and McKusick-
Kaufman syndromes (2). MKKS syndrome is caused by
mutations in the MKKS gene mapped onto chromosome 20p12
between D20S162 and D20S894 markers. Mutations in the same
gene cause Bardet-Biedl-6 syndrome. Typically, MKKS is
diagnosed (and reported) in very young children, whereas the
diagnosis of BBS often is delayed to the teenage years

When children on whom the diagnosis of MKKS has been made

infancy, they should be followed up and evaluated as the child
grows for symptoms of BBS. The parents should be
appropriately counselled regarding the need for long-term
follow-up.

References

1.A M Slavotinek 1, L G Biesecker Phenotypic overlap of

McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a
literature review.Am J Med Genet. 2000 Nov 27;95(3):208-15

2. David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A,

Vigneron J, Verloes A.Hydrometrocolpos and polydactyly: a
common neonatal presentation of Bardet-Biedl and McKusick-
Kaufman syndromes.J Med Genet. 1999 Aug;36(8):599-603.

Suggested reading

Jia-Woei Hou 1 Bardet-Biedl syndrome initially presenting as

McKusick-Kaufman syndrome ; J Formos Med Assoc 2004
Aug;103(8):629-32.

9
Case 3. Human papillomavirus infection
in newborn
Abstract.

Human papillomavirus (HPV) producing warts in the neonatal

period is extremely rare and here we report four children with
HPV viral warts in scalp, face ear and perianal region.

Keywords. Human Papilloma virus, warts, Condyloma

acuminata

Case report.

Human papillomavirus infection in newborns from infected

mothers is known well.

Four children were seen in the neonatal period with the

cutaneous manifestation of human papillomavirus infection. In
three it was primarily affecting the scalp, face, and the skin over
the ear. In one child it was in the perianal region simulating
condyloma acuminata. In all the histological proof of HPV
infection was obtained. Most of them regressed over a period of
10
12 weeks. and two children one with a perianal wart and the
other a larger pedunculated ear lesion were surgically removed.

Discussion :

HPV is a nonencapsulated, double-stranded DNA virus that can

infect either cutaneous or mucosal surface. There are five phases
in the HPV life cycle,1 they include (1) infection and uncoating,
(2) proliferation, (3) genomic phase, (4) viral synthesis, and (5)
shedding. The possibility of maternal transmission was
suggested by Hayek in 1956. He first described a condition in
which “multiple laryngeal papillomata are found in small
children and adolescents. Prenatal transmission of HPV has also
been suggested. This is supported by the presence of HPV
lesions on the infant at the time of birth. Low-risk HPV
genotypes 6 and 11 are the primary cause of condylomata
acuminata, although in children non-genital genotypes are also
found in a proportion, with the mode of transmission being either
perinatal, horizontal, or sexual. HPV DNA detection in amniotic
fluid, fetal membranes, cord blood, and placental trophoblastic
cells all suggest HPV infection in utero, i.e., prenatal
transmission.

The mother seems to be the main transmitter of HPV to her

newborn, but subsequent HPV infections are acquired
horizontally via saliva or other contacts. Recent studies on
perinatal infection with HPV have been inconclusive. It is still
unclear how frequently perinatal infection progresses to clinical
lesions, whether genital, laryngeal, or oral2. Bimodal peak
prevalence is seen for skin warts, oral papilloma, and recurrent
respiratory papillomatosis (RRP) in younger and older age
groups, suggesting similar epidemiology. Five cases of vulvar
congenital papillomas and papillomatoses in stillborn and
neonates dead upon birth have been reported.3

11
Management.

The lesions over the face and scalp slowly regressed and
completely dried and fell off leaving a scar in the area (Fig B,
C). The perianal wart and the pedunculated ear papilloma were
excised and small residual lesions were left off to regress by
themselves.

Prevention: The current Advisory Committee on Immunization

Practices (ACIP) recommendation is that vaccination of females
with bivalent or quadrivalent HPV vaccine beginning at 11 or 12
years of age (the series can begin at age 9). This helps in
preventing HPV spread through sexual contact.

References

1.Delese E. LaCour, MD Human Papillomavirus in Infants:

Transmission, Prevalence, and Persistence. J Pediatr Adolesc
Gynecol. 2012 Apr; 25(2): 93–97. •

2 S.Sirijanen M.Puranen: Human papillomavirus infections in

children: the potential role of maternal transmission Biol Med .
2000;11(2):259-74.

3.Eliane Pedra DiasJosé Maria Pinto BarcelosMaria Evangelina

Ferreira FonsecaNédia Gomes da Silva Basso: Congenital
papillomas and papillomatoses associated with the Human Papilloma
Virus (HPV): report on 5 cases Sao Paulo Med. J. 113 (4) • Aug
1995.

12
Case 4. Rhabdomyoma of the right
atrium in a newborn
Abstract.

A neonate with respiratory distress and congestive cardiac failure

with a prenatal diagnosis of large Rhabdomyoma of the right
atrium died in the neonatal period, Postmortem revealed a large
Rhabdomyoma in the right atrium. Rhabdomyoma is the most
common cardiac neoplasm in neonates. Spontaneous regression
of such tumors, particularly with smaller lesions, followed by
resolution of symptoms are well documented1. In this newborn
the tumor was large and died in the neonatal period. The clinical
outcome of rhabdomyoma and management options are
discussed in this article.

Keywords

Rhabdomyoma, congestive cardiac failure, Rhabdomyomatosis,

Tuberous sclerosis, mTOR inhibitor

Case report

A full-term male neonate was admitted with a prenatal

ultrasound diagnosis of large Rhabdomyoma right atrium. He
had respiratory distress and was desaturated and sick. X-ray
chest showed cardiomegaly (1A). An echocardiogram showed a
large tumor in the right atrium. The neonate was in congestive
failure and died within 24 hours of birth. Consent was obtained
to do a limited post-mortem of the chest

13
Infant with rhabdomyoma right atrium 1a: Xray chest shows cardiomegaly; 1b
Postmortem speciment of rhabdomyoma well encapsulated 5X4cm

Discussion

Rhabdomyoma is the commonest tumor of the heart in infants. It

may be solitary or multiple. It can be picked up prenatally.
Prenatally, it can present as round, homogeneous,
hyperechogenic masses of various sizes in the ventricles or
septal wall. It is most often seen in the second trimester and
grows in the third trimester and early neonatal period and starts
regressing thereafter. Smaller ones can undergo spontaneous
regression in the postnatal period. It is a benign tumor. It can
occur as numerous small nodules less than one millimeter and is
called Rhabdomyomatosis.

In utero, it can create fetal hydrops ventricular obstruction.

Postnatally it can produce ventricular and, supraventricular
tachycardia, arrhythmias, and obstruct valvular orifice or cardiac
chamber2 and may present with sudden cardiac death. Though
histologically "benign" tumor of the heart, it may have a
"malignant," unresectable location, producing life-threatening
ischemic symptoms.

It is often associated with tuberous sclerosis, a neurocutaneous

syndrome in 50 to 80 % of cases. The presence of hypomelanotic

14
skin patches and seizures should alert to the possibility of
association of tuberous sclerosis. Tuberous sclerosis complex
(TSC) is a rare multisystem autosomal dominant genetic disease
that causes non-cancerous tumors to grow in the brain and on
other vital organs such as the kidneys, heart, liver, eyes, lungs,
and skin. Not a true neoplasm, but a hamartoma or malformation
due to mutation in TSC1 and TSC2 genes.

Rhabdomyomas are small, firm, gray-white, well-circumscribed

myocardial masses (often multiple) that protrude into ventricles
Histologically rhabdomyoma shows clear cells and large,
rounded, polygonal cells ("spider cells") with glycogen vacuoles
separated by strands of cytoplasm extending between the cell
membrane and nucleus. No mitotic activity is seen

Management.

Many tumors regress spontaneously. (mTOR inhibitor-

Mammalian target of rapamycin or mechanistic target of
rapamycin) Sirolimus3 and everolimus have been used initially to
treat tuberous sclerosis but were found they shrink cardiac
rhabdomyoma also.

Oral sirolimus has been used in the prenatal period for fetal
cardiac rhabdomyoma and the tumor completely resolved in
utero, the mother also had tuberous sclerosis. The case reported
shows that oral sirolimus therapy in pregnancy may be a
treatment for multiple or large fetal cardiac rhabdomyoma. 4

The treatment is well tolerated with a relatively low risk of side

effects even with treatment extending over years. The only side-
effect observed in some patients was hyponatremia, which is
described in 8% of treated patients.

15
The above treatment allows some babies to avoid surgery.
Excision is mandatory in large tumors or tumors with left
ventricular outflow tract obstruction or refractory arrhythmia

References

1.A Carriço 1, C Moura, M J Baptista, G Silva, T Vaz, H

GuimarãesCardiac rhabdomyomas presenting in neonates. Rev
Port Cardiol. 2001 Nov;20(11):1095-101

2.M D Black 1, M Kadletz, J F Smallhorn, R M Freedom

:Cardiac rhabdomyomas and obstructive left heart disease:
histologically but not functionally benign Ann Thorac Surg1998
May;65(5):1388-90.

3 Helen Bornaun et al: Regression of Cardiac Rhabdomyomas in

a Neonate after Everolimus Treatment. Case Report | Open
AccessVolume 2016 |Article ID 8712962 |

4. Hyea Park, Chi Son Chang, Suk-Joo Choi, Soo-young Oh, and
Cheong-Rae Roh: Sirolimus therapy for fetal cardiac
rhabdomyoma in a pregnant woman with tuberous sclerosis.
Obstet Gynecol Sci. 2019 Jul; 62(4): 280–284.

16
Case 5. Hurler syndrome with surgical
complications
Abstract.

Hurler syndrome, also known as mucopolysaccharidosis Type IH

(MPS-IH) is a progressive disorder with a limited life span. Two
children with Hurler syndrome, one with massive inguinal hernia
and the other with hydrocephalus who had VP shunt are
discussed.

Keywords

Hurler syndrome, Hunter syndrome , Scheie syndrome,

mucopolysaccharidosis, inguinal hernia, hydrocephalus

Case Report 1.

A three-year-old male child came to the hospital with signs of

respiratory infection. The child had a classical facial appearance
typical of Hurler syndrome. The child had coarse features.
protuberant abdomen with hepatosplenomegaly. It had massive
bilateral inguinoscrotal hernia. Urine and enzyme assays were
confirmatory of mucopolysaccharidosis. Surgical correction was
planned but the anaesthetists were very apprehensive. It would
be extremely hazardous to push back all the intestines into the
abdomen without producing compartment syndrome. It was
decided to slowly reduce the intestines by raising the foot of the
bed and other measures. The child in the meanwhile developed
severe respiratory infection and died.

17
 Fig 1, Hurler syndrome with coarse features & bilateral massive hernia

Case report 2.

A two-year-old child diagnosed with mucopolysaccharidosis

developed hydrocephalus and a ventriculoperitoneal shunt was
performed. After three months the child developed an incisional
hernia at the abdominal incision. the abdominal muscles were
thin and needed a mesh repair to reinforce muscles. The disease
progressed and the child developed obstruction to laryngeal and
nasal passages and died at 4 years of age.

Fig 2 Hurlers with hydrocephalus; VP shunt was done; See the coarse feature
of the extremities
18
Hurler syndrome, also known as mucopolysaccharidosis is
formerly called, gargoylism is a genetic disorder that results in
the build-up of large sugar molecules called glycosaminoglycans
(GAGs) in lysosomes..1 It is clinically related to Hunter
syndrome (MPS II); however, Hunter syndrome is X- Linked,
while Hurler syndrome is autosomal recessive. It produces a
wide variety of symptoms including heart, brain, eye, and
skeletal structures. Scheie syndrome is a milder form of Hurler
syndrome. In Scheie syndrome the deficiency is specific to the
accumulation of dermatan sulfate. Individuals with Scheie
syndrome have normal intelligence, height, and life expectancy.

Hurlers have distinctive facial features which are coarse. It

produces corneal clouding in some individuals (Fig 3)

Fig 3. Hurlers; distinctive facial features with corneal clouding

They develop recurrent respiratory infections with enlarged

tonsils and adenoids. The first child also had abdominal
distension due to hepatosplenomegaly, Hydrocephalus develops
due to the accumulation of storage material in pia and can also

19
produce spinal cord compression and paralysis. Develop skeletal
abnormalities in the spine with scoliosis and kyphosis.

Diagnosis often can be made through clinical examination and

urine tests (excess mucopolysaccharidosis is excreted in the
urine). an abnormally elevated amount of dermatan and heparan
sulfate in the urine and complete deficiency of alpha-L-
iduronidase lysosomal enzyme activity. Enzyme assays (testing a
variety of cells or body fluids in culture for enzyme deficiency)
are also used to provide a definitive diagnosis of one of the
mucopolysaccharidoses. Prenatal diagnosis using amniocentesis
and chorionic villi sampling can verify if a fetus either carries a
copy of the defective gene or is affected by the disorder. Genetic
counseling can help parents who have a family history of
mucopolysaccharidoses to determine if they are carrying the
mutated gene that causes the disorders.

Treatment

There is currently no cure for Hurler Syndrome. Enzyme

replacement therapy with iduronidase (Aldurazyme) may
improve pulmonary function and mobility. It can reduce the
amount of carbohydrates being improperly stored in organs.
Symptomatic surgical correction for hernia and hydrocephalus
may be necessary. Surgical correction of hand and foot
deformities may be necessary. Corneal surgery may help
alleviate vision problems

Hematopoietic stem cell transplant is recommended for patients

with Hurler syndrome under the age of 2 years with normal
cognitive function (defined as IQ>70). When successful, it is a
one-time procedure that can prolong survival, preserve cognitive
function, and reduce morbidity in children 2

If safety issues can be resolved, gene therapy may provide an

alternative human treatment for MPS disorders in the future.
20
References

1.Christiane S. Hampe,1 Julie B. Eisengart, et al

Mucopolysaccharidosis Type I: A Review of the Natural History
and Molecular Pathology Cells. 2020 Aug; 9(8): 1838.

2. Kristin D’Aco, 1 Lisa Underhill,2 Lakshmi Rangachari et al

Diagnosis and treatment trends in mucopolysaccharidosis I:
findings from the MPS I RegistryEur J Pediatr. 2012; 171(6):
911–919.

Suggested reading from web-based information;

Deborah Marsden, Mucopolysaccharidoses. Rare disease data

base. National organisation for rare diseases web page

21
Case 6. Biliary ascites due to
spontaneous perforation of bile duct
with pseudo choledochal cyst.
Abstract.

Spontaneous biliary perforations in children are rare and most of

the reported cases are from perforation of Choledochal cyst.
Pseudocyst formation simulating a choledochal cyst from
spontaneous perforation of the apparently normal biliary tree is
unusual. The following is a case presentation in a four-month-old
female child.

Keywords.

Biliary ascites, Choledochal cyst, Biliary perforation, Pseudo

choledochal cyst.

Case report:

A four-month-old female child born to nonconsanguineous

parents was brought to the hospital with a history of progressive
abdominal distension, passing white-colored stool, and high
colored urine of one-week duration.

The child had surgery for a bilateral inguinal hernia at two

months of age

Clinical examination showed that the child was alert and active
with pallor and icterus. The abdomen was grossly distended,
with dilated veins over the anterior abdominal wall. Free fluid
was present in the abdomen.

22
Blood counts were elevated, and the liver function tests showed
elevated bilirubin with direct conjugated hyperbilirubinemia.
The total bilirubin was 6.2mg %, direct bilirubin 5.0mg%, total
protein 5.1gm%.

Pre-operative Ultrasound abdomen showed a thin gall bladder,

large serpiginous cystic mass under the surface of liver
extending from porta hepatis to the tip of the left lobe of the
liver.

Management: Through a right subcostal incision the abdomen

was opened and nearly 200 ccs of bile-stained fluid were sucked
out. There were adhesions between the liver and the colon. The
gall bladder was collapsed. A thick-walled cyst was seen on the
right side of the porta hepatis. Aspiration drew bile and an
operative cholangiogram was done.

It showed a normal intrahepatic biliary tree with the dilated

upper portion of the common bile duct. The rest of the common
bile duct was replaced by a large transversely situated cyst. The
distal common bile duct was not seen and there was no flow of
dye into the duodenum. The cyst was drained by an 8F Foley
catheter. Liver biopsy was done. Fig (2)
23
 Fig 2: Injection of dye into the cyst shows the pseudocholedochal cyst and the
normal intrahepatic biliary tree and proximal dilated common bile duct and the
gall bladder

The histology of the liver was normal. The bile discharge from
the drain continued for nearly 15 days and the motion remained
white-colored. The serum bilirubin returned to normal. The child
was re-explored through the original incision. There were dense
adhesions between the liver and the first portion of the
duodenum. The original cyst was not seen. As the adhesion was
released there was an incidental small perforation in the first part
of the duodenum. A dense stricture was seen extending from the
common hepatic duct to the junction with the cystic duct The
common bile duct distal to cystic duct was normal. The
structured segment with the gall bladder was removed.
Cholangiogram done through the distal common bile duct
showed the free flow of the dye into the duodenum.

The two cut ends of the common bile duct were anastomosed
over a 5 French feeding tube with a side hole. It was brought
through the incidental perforation in the first part of the
duodenum and drained externally. The complete disappearance
of the cyst during the second surgery indicated the cyst which

24
was seen during the first exploration was a pseudocyst
simulating Choledochal cyst.

On the fifteenth day after the second surgery cholangiogram was

done through the feeding tube draining the common bile duct
showed the free flow of bile into the duodenum and normal
proximal ducts with the minimal periductal leak. The drainage
tube was removed and the child made a good recovery. Fig 3.

Fig 3 : Post operative Cholangiogram through the feeding tube showing free
flow of dye into the duodenum with minimal periductal leak.

Follow up after two years showed normal liver function tests

with normal growth and development. Fig 4.

25
Fig 4.: At 2 years normal growth and development with normal liver function.

Discussion

Spontaneous bile duct perforation with resultant biliary ascites in

children is a rare clinical condition. (1) It is still rarer to have a
Pseudocyst formation simulating a choledochal cyst in bile duct
perforation. Most of the reports of bile duct perforations have
been described in the choledochal cyst. (2, 3, 4) Pseudocyst
formation has been reported in the perforation of the choledochal
cyst. (4) Spontaneous perforation of bile duct with biliary
peritonitis has been successfully treated by simple drainage of
the ascitic fluid and cholecystostomy. (5) Abdominal
paracentesis and peritoneal tube drainage for 2 weeks helped the
perforation to seal spontaneously when there is no distal
obstruction in some children.

Pancreaticobiliary maljunction was postulated to contribute to its

etiology in two children and the site of perforation was at the
junction of the common bile duct with the cystic duct in all cases
(6). The etiology of perforation is considered to be epithelial
irritation of the biliary tract due to refluxed pancreatic juice
caused by pancreaticobiliary malunion associated with mural
26
immaturity due to infancy, rather than an abnormal rise in ductal
pressure or congenital mural weakness at a certain point. (7)

Pseudocyst simulating a choledochal cyst due to spontaneous

rupture of the apparently normal common bile duct is a rare
entity

References

1. Sai Prasad TR, Jacobsen AS et al: Bile duct perforation in

children: is it truly spontaneous? Ann Acad Med Singapore.
2006 Dec;35(12):905-8.

2.Wagholikar GD, et al: Spontaneous perforation—a rare

complication of choledochal cyst-- Indian J Gastroenterol. 2004
May-Jun;23(3):111-2

3.Ando K, Miyano T, et al. Spontaneous perforation of

choledochal cyst: a study of 13 cases. Eur J Pediatr Surg. 1998
Feb;8(1):23-5

4. .Fumino S, et al . Spontaneous rupture of choledochal cyst

with pseudocyst formation-report on 2 cases and literature
review. J Pediatr Surg. 2006 Jun;41(6):e19-21

5.Sharma SB, et al. Spontaneous biliary perforation: a rare entity

in late infancy and childhood: Indian J Pediatr. 2003
Oct;70(10):829-31

6. Hasegawa T, et al . Does pancreatico-biliary maljunction play

a role in spontaneous perforation of the bile duct in children?
Pediatr Surg Int. 2002 Sep;18(5-6):565-6.

7.Ando K, Miyano T et al. Spontaneous perforation of

choledochal cyst: a study of 13 cases. Eur J Pediatr Surg. 1998
Feb;8(1):23-5.

27
Case 7. Ankyloblepharon filiforme
adnatum with cleft lip
Abstract.

Ankyloblepharon filiforme adnatum or congenital eye band

syndrome is a rare condition where the lid margins of the eye are
connected by fine filaments of extensile tissue at birth.
Association with cleft lip is rare though has been reported.

Keywords

Ankyloblepharon, Ankyloblepharon filiforme adnatum, Cleft lip

Case history

A three-day-old male child was admitted with a history of

inability to open both eyelids completely. The child was born
full-term to a multigravida. The siblings are normal. There was
no family history of a similar congenital anomaly.

Clinical examination revealed that the eyelids on both sides were

joined by multiple tiny strands of tissue. (Fig 1 a, b) The inner
aspects of both eyelids were free of adhesion. The child also had
an incomplete cleft lip on the left side. (Fig1.c) The palate was
normal. The child was otherwise normal and did not have any
other congenital anomaly.

Fig 1a&b: Fine filamentous adhesion of eyelids. Fig 1c. Cleft lip

28
Under general anesthesia, the multiple threads of adhesions of
both eyelids were released. The lid margins could be opened
fully. The resultant tiny specks of the wound healed completely.
A detailed examination of both eyes for any intraocular defect
did not reveal any abnormality, The surgery for the cleft lip was
not done in the neonatal period.

Discussion

Ankyloblepharon is a condition where the lid margins are

directly fused together. Ankyloblepharon filiforme adnatum
(AFA) or congenital eye band syndrome is another condition
where the lid margins are connected by fine bands of extensile
tissue. AFA may be unilateral or bilateral. It may be symmetrical
or asymmetrical. This abnormality may be an isolated anomaly
or associated with other ocular and nonocular abnormalities or
with other syndromes. 1

Rosenman proposed the classification of AFA into four types.2.

In type I the inheritance is sporadic and not associated with any
other abnormality. Type II is associated with the central nervous
system and cardiac defects. Type III is associated with
ectodermic syndromes characterized by popliteal pterygium,
cleft lip, cleft palate, and genitourinary abnormalities. Type IV is
associated with cleft lip and palate alone. Bacal et al suggested a
fifth group of AFA associated with chromosomal abnormalities.3

Two cases of AFA in siblings have been reported. One sib had
associated cleft lip and palate, the other had bilateral syndactyly
of the second and third toes.4 AFA has been associated with
infantile glaucoma and iridogoniodysgenesis 5. AFA was also
associated with imperforate anus, hydrocephalus, and
meningomyelocele6

AFA is probably due to developmental error either due to a

temporary arrest of the growth of epithelium or more probably to
29
an abnormally rapid proliferation of mesoderm allowing union at
certain points of mesenchyme of lid fold without epithelial
interposition.

The treatment of AFA is a simple division of the strands which

heal completely. All children need through ophthalmologic
examination to exclude any intraocular defects.

Ankyloblepharon filiforme adnatum associated with cleft lip is a

rare anomaly though the association has been reported.7, 8

References

1.Stewart Duke elder. System of optholomolgy Vol III 1964:

Ankyloblepharon filiforme adnatum 869- 871.

2 Rosenman Y, Ronen S, Eidelman AI, Schimmel MS

.Ankyloblepharon filiforme adnatum: congenital eye band
syndromes. Am J Dis child.1980 Aug:134(8):751-3

3. Bacal DA, et al Ankyloblepharon filiforme adnatum in

trisomy 18: J Pediatr ophthalmol strabismus 1993 Sep-
Oct:30(5):337-9

4. Akkermans CH, Stern LM. Ankyloblepharon filiforme

adnatum Br.J. Ophtholmol1979 Feb: 63(2):129-31

5.Scott.MH, Richard JM, Farris BK Ankyloblepharon filiforme

adnatum associated with infantile glaucoma and
iridogoniodysgenesis. J Pediatr Ophthalmol Strabismus. 1994
Mar-Apr;31(2):93-5

6. Kazarian EL, GoldsteinP: Ankyloblepharon filiforme adnatum

with hydrocephalus,meningomyelocele and imperforate anus.
Am.j. ophtholmol.1977 Sep:84 (3):355-77.Pandya

7.A,BharuchaBA,PatwardhanSD,KagalwalaTY,KumtaNB A
multiple malformation syndrome with cleft lip and palate and

30
Ankyloblepharon filiforme adnatum. : Indian J Pediatr. 1985
Nov-Dec;52(419):667-70.

8.Long JC, BlandfordSF Ankyloblepharon filiforme adnatum

with cleft lip and palate: Am.j.ophtholmol.1962 Jan:53:126-9

31
Case 8. Heterotopic salivary gland with
salivary fistula in the neck.
Abstract.

A salivary fistula in the upper third of the right sternomastoid

muscle due to heterotopic salivary gland mimicking branchial
fistula is being presented.

Keywords

Salivary fistula, Ectopic salivary fistula. Heterotopic salivary

gland, Branchial fistula

Case report

A four-year-old girl was seen with a history of watery discharge

from the upper third of the right sternomastoid muscle on and off
from birth. (Fig 1 A) The watery discharge was not meal-related.
The rest of the clinical examination was unremarkable. A clinical
diagnosis of the branchial fistula was made and was subjected to
surgery.

Through a horizontal incision in the neck, the tract was

dissected, which ended within 2 cm in a nodule of tissue. The
whole track and the nodule were excised and sent for
histopathological examination. The child made an uneventful
recovery.

Microscopy showed a dermal sinus tract lined by

pseudostratified columnar epithelium extending from the skin
surface. (Fig 1 C) The tract terminated on a lobule of the
mucinous salivary gland which was located in the subcutaneous
connective tissue. (Fig 1B) These findings were consistent with
an ectopic mucinous salivary gland with a fistula lined by
pseudostratified columnar epithelium.

32
 1a Watery discharge from upper third of right sternomastoid: 1b Mucinous
salivary gland; 1c Fistulous tract lined by pseudo stratified columnar
epithelium extending from skin surface

Discussion.

Heterotopic salivary gland tissue (HSGT) is defined as the

presence of salivary tissue outside the major salivary glands
(parotid, submandibular and sublingual) and the minor salivary
glands of the oral cavity, pharynx, and upper airways. It has
various distributions reported in numerous sites throughout the
body like periparotid and cervical lymph nodes, pituitary,
external auditory canal, thyroglossal duct cyst, mastoid bone,
middle ear, tongue, sternoclavicular joint, thyroid and
parathyroid glands, and the upper and lower neck regions and
gastroesophageal junction.

In the neck, the most common site described is along the anterior
border of the lower end of the sternal head of the sternomastoid
muscle, particularly around the sternoclavicular joint. The
presence of HSGT with an ectopic fistulous duct is a rare
occurrence. Embryogenesis of HSGT is more probably related to
ectodermal heteroplasia of the precervical sinus of His and that
an association with branchial cleft sinus may exist and cannot be
seen as exclusion criteria for diagnosis. (1). Congenital ectopic
salivary fistulas are unusual and most are composed of parotid
gland fistulas or submandibular gland fistulas in the face. (2)

33
Presence of salivary fistula in the upper third of the neck is very
unusual.

A diagnosis of the branchial cleft fistula was initially made in

this case because of its similarity with it regarding common
location along the anterior border of the sternomastoid muscle
with the absence of a history of infection or pain, Branchial cleft
fistula with heterotopic salivary gland tissue in the lower neck
has been described (3). In this case, however, there were no
branchial elements in the fistulous tract but the tract was lined by
pseudostratified columnar epithelium.

Branchial cysts with HSGT in the upper third of the neck have
been described. (4) Bilateral cervical fistulas with HSGT has
been reported in a 29 a year-old male individual where there
were fistulas in both sides of the neck, anterior to the
sternocleidomastoid muscle with salivary gland tissue (5)

The case described above had a classical histological picture of

mucinous salivary gland situated ectopically in the neck
producing a fistulous tract simulating a branchial fistula which is
a rare occurrence and hence the presentation.

References.

1.Wen-Yu Chang, Ka-Wo Lee, Kun-Bow Tsai and Gwo-Shing

Chen1.Ferlito A, Bertino : Heterotopic Salivary Gland Tissue: A
Case Report Demonstrating Evolution and Association with the
Branchial Apparatus ; The Journal of Dermatology Vol. 32: 731–
736, 2005

2. Jana AK, Jaswal A, Sikder B, et al. Fistula of submandibular

gland-a rare presentation. Indian J Otolaryngol Head Neck Surg
2006;58(4)

34
3. Takimoto T1, Kato H. Branchial cleft fistula with heterotopic
salivary gland tissue in the lower neck. ORL J Otorhinolaryngol
Relat Spec. 1990;52(4):265-8.

4.Gallego Aranda I1, Lassaletta Atienza L, López-Ríos Moreno

F, et al : Branchial cysts with heterotopic salivary tissue in the
upper third of the neck : Acta Otorrinolaringol Esp. 2000 Nov-
Dec;51(8):755-8.

5. Kei Ogawa Kenji Kondoh Kaori Kanaya Atsushi Ochi et al :

Bilateral Cervical Fistulas from Heterotopic Salivary Gland
Tissues : Journal of ORL 2014;76:336–341.

35
Case 9. Reversed rotation of kidney with
hydronephrosis
Abstract.

Reversed rotation of the kidney where the pelvis faces laterally is

a rare anomaly. A ten-year-old girl with recurrent abdominal
pain was found to have reversed rotation of the kidney
ectopically placed with hydronephrosis, underwent pyeloplasty,
and became asymptomatic.

Keywords

Malrotation of kidney reversed rotation, Hydronephrosis,

Pyeloplasty, Ectopic kidney

Case report

A ten-year-old girl was admitted with recurrent abdominal pain

for evaluation. The pain was primarily in the left loin which used
to disappear spontaneously.

Fig 1. Reversed rotation of left kidney with pelvis facing laterally and calyses
medially. The right kidney shows normal excretion

There was no history of fever or bowel-related symptoms.

Clinically there was tenderness in the left loin and a vague mass
36
was palpable. A clinical diagnosis of kidney mass was made.
Routine investigations were unremarkable.

This child was seen in the late seventies when an ultra-sonogram

was not available. An Intravenous urogram was done. It showed
the pelvis of the left kidney was facing laterally and the calyces
were medial. The whole kidney was lowly placed compared to
the normal position. The right kidney was normal in position and
excretion. Fig 1.

The left kidney was explored through a left loin incision and the
kidney was completely rotated with pelvis facing laterally. There
was moderate hydronephrosis and there were fibrous bands
surrounding the pelviureteric junction with vessels running in
front from the posterior aspect of kidney.

A dismembered pyeloureteroplasty was done. The patient made

an uneventful recovery. IV urogram done 3 months later showed
good drainage without hold up of dye . Fig 2.

Fig 2. Postoperative IVU showing good drainage from the kidney.

37
Discussion.

The kidney and renal pelvis normally rotate 90 degrees

ventromedially during ascent so that the calyces point laterally
and the pelvis faces medially. When this alignment is not exact,
the condition is known as malrotation.

When the kidney rotates to 180
laterally or dorsolaterally, it is
kidney. The blood vessels go on
and enter laterally. It may be a
additional polar vessels. Fig 3.
degrees with the pelvis facing
called reverse rotation of the
the dorsal aspect of the kidney
single vessel or there may be

Fig 3. Diagrammatic representation of Reverse rotation of kidney .

Symptomatology: Many malrotations of the kidney may be

asymptomatic or incidentally picked up when investigating for
other causes. It may present as hydronephrosis due to peri
ureteric fibrous bands or due to abnormal vasculature.

It can present as recurrent urinary infections and stone

formations1 and rarely haematuria. Symptoms of obstruction and
pain may develop during increased urine production.

38
Diagnosis can be made by ultrasonogram or CT, MRI, or
retrograde pyelogram which will show the pelvis and
hydronephrosis or stone that is responsible for symptoms.
Currently, contrast-enhancing CT is the investigation of choice
since it clearly demarcates the rotation, vasculature, position, and
associated pathology 2 The lateral direction of the ureter and
laterally facing pelvis, and abnormal vasculature are diagnostic
of reverse rotation of kidney.

Treatment

Hydronephrosis in this girl was managed with conventional

pyeloplasty. If conventional pyeloplasty is not possible due to
malposition of pelvis and ureter, ureterocalicostomy can be done
either by open or laparoscopically.3

References

1.Sudhir Kumar Thakur, Salabh Gupta, Shashank R Gupta,

Somen Jha: Reverse rotation of kidney with spina bifida in an
adult , Saudi journal of kidney diseases and transplantation .2010
: 21 : 6 : 1149-1150.

2, Francesca Di Giuliano, MD,a Eliseo Picchi, MD Congenital

kidney malformation: Computed tomography and scintigraphy
findings of renal reversed rotation Radiol Case Rep. 2019 Jun;
14(6): 678–682.

3. Natalie Divjak,a,∗ Jacques Birraux,b Hassib Chehade,c and

Oliver Sanchez: Hydronephrosis caused by kidney malrotation:
Urol Case Rep. 2021 May; 36: 101564.

39
Case 10. Congenital constriction band
presenting as impending gangrene of
hand at birth – A rare presentation
Abstract.

The congenital constricting ring produces auto amputation of

limbs and toes but doesn’t present with symptoms of complete
vascular insufficiency resulting in gangrene of extremity. A
newborn with deformity right arm and forearm with impending
gangrene is presented.

Keywords

The congenital constricting band, amniotic band syndrome,

congenital constriction ring, auto amputation, neonatal gangrene.

Case report.

A newborn male child was referred to the hospital with a

discolored, foreshortened right arm and forearm. The fingers
were deformed. The forearm and the arm except for proximal 3
cm were dark and avascular.

The line of demarcation was seen clearly at the junction of the

viable proximal stump. (Fig 1) the bone was exposed and partly
broken. The rest of the body was normal and there were no other
constricting bands. The gangrenous limb was amputated at the
site of the line of demarcation and the proximal stump was
fashioned.

Discussion

Congenital constriction band syndrome also called Streeter

dysplasia is a well-known entity. Large series have been
published.1

40
1a congenital constriction band right arm with foreshortened arm/ forearm and
deformed fingers with gangrene exposing the bone; 1b; Right arm and forearm
avascular and detached from the proximal humerus

Several theories have been attributed like germ plasm theory,

amniotic threads, chorion separation, and primary failure of
development of subcutaneous tissue. The accepted concept is,
fibrous strings attached to amnion extending to denuded chorion
producing mechanical constriction to the developing limbs
produce the effects of congenital constriction ring. It has been
reported after foetal surgery or previous uterine surgery.

The constriction may produce minimal structural damage to

complete obstruction to vascular supply resulting in utero auto
amputation. (Fig 2) . The lesions are more often seen in limbs
especially in lower limbs. (Fig.3). Involvement of trunk neck
though reported is very rare. Complete loss of digits can happen

41
Fig 2. Congenital constriction band right leg & auto amputation of the left leg.

It has been classified into four stages from 1) simple constriction

band, 2) Band with oedema,3) band with syndactyly and 4) auto
amputation.

Fig 3. The constriction band primarily affects the limbs

Ultrasonologist can pick up these lesions and in a few centres

foetal surgery and division of the amniotic bands have been
attempted

Postnatally if the constriction band is not producing and vascular

or neurological damage the constricting ring and the
subcutaneous tissue is excised and reconstructed with multiple Z
plasties.

42
 Fig 4 Constriction band treated with multiple Z plasties.

Reconstructive hand surgery in the auto amputation of digits or

syndactyly is undertaken at an appropriate time. In congenital
constricting bands the effects of constriction on the limbs results
in intrauterine amputation, healed lesions are seen at birth (Fig
2).

If prenatally diagnosed fetal surgery and release of bands have

been attempted.2

In the case presented above, the neonate was brought to the

hospital with the vascular compromised right arm, with
impending gangrene and auto amputation. The limb itself was
deformed and foreshortened indicating that the vascular
compromise due to the constriction ring should have happened
much earlier to the delivery of the child. The limb became
completely gangrenous within 48 hours and was amputated.

The case is presented because it is extremely rare to see a

newborn with impending gangrene of the limb due to Congenital
constricting band.

References

1.T. R. Light and J. A. Ogden Congenital constriction band

syndrome. Pathophysiology and treatment. Yale J Biol Med.
1993 May-Jun; 66(3): 143–155.
43
2. Javadian P, Shamshirsaz AA, Haeri S, Ruano R, Ramin SM,
Cass D, et al. Perinatal outcome after fetoscopic release of
amniotic bands: a single-center experience and review of the
literature. Ultrasound Obstet Gynecol. 2013 Oct. 42 (4):449-55. [

Suggested reading

Twee T Do, MD; Chief Editor: Jeffrey D Thomson: Amniotic

Band Syndrome (Streeter Dysplasia) Treatment & Management.:
Medscape

44
Case 11. Spontaneous healing of a large
abdominal wall defect in a road traffic
accident, and the use of Bogota bag
method as temporary closure in
abdominal compartment syndrome in
congenital diaphragmatic hernia.
Abstract.

A major road traffic accident in a ten-year-old boy resulted in the

full-thickness loss of abdominal muscles with exposed intestines,
healed with simple dressing with Vaseline impregnated gauze in
1980. For two neonates with congenital diaphragmatic hernia
where abdominal closure was fraught with the danger of
compartment syndrome, the Bogota method was used. The
current management in such a situation is discussed.

Keywords; Abdominal wall injury, Road traffic accident, Bogota

bag method, Compartment syndrome, Congenital diaphragmatic
hernia

Case Report:

A ten-year-old boy sustained a road traffic accident and was

brought to the hospital in critical condition. This happened in
1980. The boy underwent rapid resuscitative measures. He had
sustained complete avulsion of abdominal muscles on the left
side, extending from the posterolateral aspect of the chest to the
midline of the anterior abdominal wall with loss of full thickness
of the skin and abdominal muscles with evisceration of
abdominal contents including the spleen, The intercostal
muscles were cut and the chest exposed.

45
The chest X-ray showed left pneumothorax with the collapse of
the lung The abdominal viscera was completely exposed but
without injury to the continuity of the intestines. the spleen was
normal and there was blood in the peritoneal cavity Fig 1.

Fig 1. Major abdominal trauma with complete evisceration of

bowel.

When the boy was stable he was taken up under general

anaesthesia. A thorough wash of the exposed bowel and wound
debridement was done. The intercostal muscles were closed with
a drain, The exposed torn muscles and the skin tags were
resutured. There was a big gap in the main wound where the
muscles and skin were deficient. It was impossible to close the
abdomen. In the absence of silo or synthetic material, the whole
bowel after partial reduction in the abdomen was covered with
Vaseline impregnated gauze and bandaged.(Fig 2B } The
superficial dressings were changed every third day. The child
was on IV fluid and broad-spectrum antibiotics. He started
having bowel movements after a week and started accepting oral
fluids which were gradually increased. The lung expanded and
the intercostal tubes were removed.

The Vaseline gauze was changed after a week by which time a

thin layer of coagulum is formed over the bowel. Slowly the

46
intestines started getting accommodated inside the abdomen and
the wound started shrinking,

By the end of the month, the wound was almost completely

healed. (Fig 2C)The boy was on a normal diet and discharged
home after the wound had completely healed.

He was asymptomatic, but after three months developed

osteomyelitis of the rib at the place of intercostal drainage which
healed with antibiotics.

Fig 21.A . complete loss of skin and muscles in abdominal wall exposing the
large and small bowel. 2.B. Exposed bowel covered with Vaseline gauze. 2 C.
The wound has almost completely healed

Discussion.

The boy who had a major road traffic accident with loss of full
thickness of abdominal muscles with evisceration of bowel
survived with compete healing of the wound by simple dressing,
highlighting natures remarkable power of healing.

Though number of measures are available for temporary cover of

the prolapsed bowel like the use of absorbable mesh, the
Wittmann patch, negative pressure wound therapy and dynamic
closure systems. the Bogota bag method is simple and gives
good results
47
The unique contribution of Oswaldo A. Borraez Gaona, MD, of
Bogota, (Fig 2) Colombia, was the application of a plastic bag
over the open abdomen in injured patients where primary
closure is not possible

A Bogota bag is a sterile plastic bag like the urinary bag which is
cut and is sewn to the skin or fascia of the anterior abdominal
wall. Its use was first described by Oswaldo Borraez when the
above procedure was used in major abdominal injuries. 1. It has
been used in children also .2.

Bogota VACA is a newly modified temporary abdominal closure

technique. where the VAC system's ring-shaped black
polyurethane foam was placed into the gap between the Bogota
bag, abdominal fascia, and the wound edge. A constant negative
topic pressure of 50-75 mmHg was used in the VAC system.3

It can be used for a temporary closure in burst abdomen with

distended bowel and children when you have compartments
syndrome., In addition, the Bogota bag acts as a hermetic barrier
that avoids evisceration and loss of fluids. Another advantage to
the Bogota bag is that the abdominal contents can be visually
inspected which is particularly useful in cases of ischemic bowel.

48
Two neonates with a diaphragmatic hernia in which the intestinal
contents could not be reduced were treated with the Bogota bag
method. The uro bag was cut to cover the bowel snugly. The bag
was over-sewn every day in the nursery itself, progressively
reducing the abdominal contents into the abdominal cavity. An
infant feeding tube was kept for irrigation of the abdominal
contents and the adhesions of the bowel were minimum.

By the seventh day, the entire eviscerated contents of the

abdomen settled in the abdominal cavity without any distress and
the abdomen could be comfortably closed. The neonates made a
good recovery.4 (Fig 3)

Fig 3. Newborn with congenital diaphragmatic hernia treated

with Bogota bag method with progressive reduction of the bowel
into the peritoneal cavity with complete recovery. (With
permission, Editor Journal of neonatal surgery)

Conclusion.

In the case number one the eviscerated bowel was covered with
Vaseline gauge and surprisingly the intestines returned into
abdomen and wound closed without any additional measure.

In major abdominal injuries where closure of abdomen is

difficult without producing abdominal compartment syndrome or

49
impossible to close a temporary closure of abdominal wall by
covering with plastic bags called Bogota bag method is used. It
was used in two neonates with success.

References

1.Yar Muhammad 1, Khalid Masood Gondal 1, Umair Ahmed

Khan Use of the"bogota bag"for closure of open abdominal
wound after exploratory laparotomy - our experience at Mayo
Hospital Lahore. J Pak Med Assoc 2016 Aug;66(8):980-3.

2. Eitan Neeman 1 2, Nitza Heiman Newman 3 2, Yuval Cavari 1 2,

Yael Feinstein 1 2, Yulia Fuxman 3 2, Isaac Lazar 1 2Bogota Bag
Temporary Abdominal Closure Surgical Technique in Children:
A 15-Year Single Center Experience Isr Med Assoc J. 2020
Jan;22(1):43-47.

3.Von Rüden C,Benninger E,Mayer D, Trentz O,Labler L.

Bogota VAC A newly modified temporary abdominal closure
technique. Eur J Trauma Emerg Surg 2008; 34:582

4. Ravikumar Ramanathan Valkodai Temporary Abdominal

Wall Closure in Congenital Diaphragmatic Hernia by Bogota
Bag Method Journal of Neonatal Surgery 2017; 6:80.

50
Case 12. Caffey’s disease in a four-
month-old child.
Abstract.

Caffey disease or Infantile Cortical Hyperostosis (ICH) affecting

infants is a rare disease, characterized by acute inflammation of
the periosteum resulting in cortical thickening It presents with
irritability fever, and bony thickening. It is a self-limiting
disorder. We are presenting here a classic case of Caffey’s
disease.

Keywords. Caffey’s disease, Infantile Cortical Hyperostosis,

Osteomyelitis

Case Report.

A four-month-old child was admitted with an irritable cry. The

mother had noticed a slight swelling in the left jaw and swelling
in the left forearm and right clavicle. Fig 1. Clinically there was
tenderness in all these sites and the child was afebrile. Complete
blood count was normal except for a raised ESR.

Fig 1 Photograph showing swelling in the left side of face, right clavicle, and
left forearm.

The X-ray of the left jaw was near normal but the forearm and
right clavicle showed hyperostosis of the left ulna and clavicle
classical of Caffey’s disease. (Fig 2)

51
 2a X ray of left forearm showing hyperostosis of left ulna; 2b X ray of right
clavicle showing cortical thickening classical of Caffey’s disease

Discussion

Caffey’s disease or Infantile cortical hyperostosis is a self-

limited inflammatory disorder characterized by the triad of
irritability, soft tissue swelling, and bony changes. The disease
may be present at birth or occur within five months of infancy.
Rarely delayed cortical hyperostosis can happen.1

The cause is unknown. Both familial and sporadic forms occur.

The familial form may be present at birth and has an early onset.
The sporadic forms are seen later. The mandible and clavicle are
commonly involved. The disease has been described in many
bones, including the mandible, tibia, ulna, clavicle, scapula, ribs,
humerus, femur, fibula, skull, scapula, ilium, and metatarsals.

The severe prenatal onset form is characterized by extensive

hyperostotic bone involvement, angulations, and shortness of
long bones, as well as polyhydramnios and fetal hydrops, which
may lead to the incorrect diagnosis of a lethal form of
Osteogenesis imperfecta. But the absence of other signs like a
blue sclera, delicate skin, and total absence of fractures and
typical histopathological features differentiate this condition
from Osteogenesis imperfecta.2

52
Investigations

Radiographs initially show layers of periosteal new bone

formation with cortical thickening. Over time, the periosteal new
bone density increases, becoming homogenous with the
underlying cortex. Eventually, the bone remodels and resumes a
normal appearance. X-ray imaging must be differentiated from
Ewing’s sarcoma, child abuse, scurvy, and osteomyelitis.

In the early stages of infantile cortical hyperostosis, biopsy

shows inflammation of the periosteum and adjacent soft tissues.
After these resolves, the periosteum remains thickened, and
subperiosteal immature lamellar bone can be seen on biopsy,
while the bone marrow spaces contain vascular fibrous tissue.
Eventually, the inflammation and subperiosteal changes resolve,
and hyperplasia of lamellar cortical bone can be seen.

Investigation of blood is usually normal except for raised ESR

and serum alkaline phosphatase levels.

Management

It is a self-limiting disorder that resolves over a period of time

without any specific treatment. Paracetamol or non-steroid anti-
inflammatory drugs are useful to reduce pain and inflammation.
Steroids in the acute phase may relieve the symptoms but do not
have any role in the resolution of bony changes

References

1.K Antoniades 1, A Kommata, M Emporiadou,Delayed infantile

cortical hyperostosis (Caffey's disease): case report: Int J Oral
Maxillofac Surg 1995 Aug;24(4):303-5.

2. Narayanan Kutty,* Doylene Thomas, Lionel George, and

Thomas B. John Caffey Disease or Infantile Cortical

53
Hyperostosis: A Case Report. Oman Med J. 2010 Apr; 25(2):
134–136

Recommended reading.

Harikiran Nistala, Ph.D,1 Outi Mäkitie, M.D,2,3 and Harald

Jüppner, Caffey disease: new perspectives on old questions
Bone. 2014 Mar; 60: 246–251.

54
Case 13. Internal carotid artery
aneurysm in a five-year-old boy
Abstract.

A five-year-old boy with a neck swelling in the left upper third

of sternomastoid referred for fine-needle aspiration biopsy was
turned out to be an aneurysm of the internal carotid artery. (ICA)
which is a very rare presentation in children.

Keywords. Aneurysm of Internal carotid artery, extracranial

carotid artery aneurysms, Extracranial to intracranial bypass

Case Report.

A five-year-old boy with a neck swelling and vague pain for 3

months was referred to our hospital for fine-needle aspiration
biopsy.

Fig 1 Swelling in the left upper deep cervical region extending to base of skull

55
The swelling was in the left upper third of the sternomastoid. it
was 4 cm by 3 cm extending upwards to the base of the skull and
was pulsatile. A bruit was heard on auscultation. The tonsils
were normal and there was no intraoral bulge. There was no
cranial nerve or cerebral involvement. An ultrasound
examination confirmed it to be an aneurysm arising from the
internal carotid artery. It was confirmed by a CT scan which
showed a large saccular aneurysm extending from the carotid
bifurcation to the base of the skull. The external carotid artery
was normal.

The case was seen by the interventional cardiologist who

suggested endovascular coiling, but the parents did not turn up
for further treatment.

Fig 2 CT scan of the neck showing large saccular aneurysm of left internal
carotid artery. The external carotid artery is normal

Discussion

Extracranial carotid artery aneurysms are rare in children. In a

study of four children, two were in the internal carotid artery,

56
(ICA) one in the external carotid artery, (ECA), and one in the
common carotid artery(CCA). The cause was mycotic, traumatic
following tonsillectomy, and unknown in two cases. 1. Lower
cranial nerve palsies are unusual at presentation and have been
reported 2. Thromboembolic complications, rupture, and bleeding
can happen, and hence surgical or endovascular correction is
necessary, but can be challenging according to the anatomical
location of the aneurysm. Pseudoaneurysms due to trauma have
been reported in infants as young as 11 months.4
Pseudoaneurysm of common carotid artery due to a swallowed
fishbone in a boy of 8 years has been reported.5

Management

The surgical management of complex ICA aneurysms can be

very challenging. A combined cerebrovascular team at a high-
volume center provides the capabilities to achieve good results in
these patients 2.ICA sacrifice, or ICA sacrifice combined with
EC-IC bypass2 is the treatment of choice though endovascular
coiling has also been tried. The treatment strategy for each case
was decided by a combined cerebrovascular team consisting of
both neurovascular surgeons and endovascular interventionists.
Aneurysm resection and interposition with vein graft were
performed in three out of the four patients with an extracranial
aneurysm in one series. The external carotid artery aneurysm
was resected without reconstruction.1 The ICA aneurysm has
been resected and the repair was performed with an interposition
reversed great saphenous vein graft on one occasion 3.In our case
the parents did not turn up for any form of management,

Conclusion.
A rare case of Internal carotid artery aneurysm on the left side of
the neck initially diagnosed as lymphadenitis and referred for
fine-needle aspiration biopsy is presented, emphasizing the need

57
for proper and thorough clinical examination in every neck
swelling.

References

1.Siamak Pourhassan 1, Dirk Grotemeyer, Marcus Fokou,

Wolfram Heinen, Kai Balzer, Ulrich Ramp, Wilhelm Sandmann:
Extracranial carotid arteries aneurysms in children: single-center
experiences in 4 patients and review of the literature.
j.jpedsurg.2007.07.052

2. Wei Zhu, Yan-Long Tian, Liang-Fu Zhou, Dong-Lei Song,

Bin Xu, Ying Mao W . Treatment Strategies for Complex
Internal Carotid Artery (ICA) Aneurysms: Direct ICA Sacrifice
or Combined with Extracranial-to-Intracranial Bypass: World
neurosurgery, wneu.2010.07.043.

3, JeffreyEdwards BS aMeganCarrollMDbMathewWoosterMD
True extracranial carotid artery aneurysm in a child . Journal of
Vascular Surgery Cases Volume 1, Issue 2, June 2015, Pages
110-112

4 N, Darryl Hampson-Evans frca , Kiran patwardhan , Linda

Murdoch Traumatic aneurysm of the internal carotid artery in an
infant: a surprise diagnosis: Paediatr Anaesth. 2002
May;12(4):356-61

5.Moulion Tapouh Jean Roger Pseudoaneurysm of the Common

Carotid Artery in an Infant due to Swallowed Fish Bone Case
Report | Open Access Volume 2015 |Article ID 903150

58
Case 14. Adrenal adenoma in a girl with
congenital adrenal hyperplasia
Abstract.

Adrenal tumors can develop in congenital adrenal hyperplasia

(CAH) due to ACTH stimulation, due to lack of glucocorticoid
synthesis, or in children who are not compliant with a proper
dose of glucocorticoids. Herein we describe a 10-year-old child
who had a benign adenoma of the left adrenal gland who was not
compliant in her intake of glucocorticoids. The adenoma was
removed laparoscopically and it was histologically benign.
Adrenal tumours which are incidentalomas are common in adults
but are rare in children with CAH.

Keywords

Adrenal adenoma, Congenital adrenal hyperplasia, adrenal

tumors. Incidentalomas

Case report.

A 10-year-old girl who is being followed up in the pediatric

endocrinology department for CAH came with vague abdominal
discomfort. She was seen in infancy with hyperpigmentation,
clitoromegaly and was diagnosed as CAH due to 21 hydroxylase
deficiency. She was on glucocorticoids. She was not regular in
her intake of drugs and at three years had significant
clitoromegaly and resection clitoroplasty and vaginoplasty was
done. (Fig 1) She was being followed up in the pediatric
endocrinology department.

59
 Fig 1A, 10-year-old girl with CAH, hyperpigmented, B&C: Post
clitorovaginoplasty picture.

When she reported with abdominal discomfort, clinical

examination of the abdomen was normal. Her external genitaila
showed normal looking clitoris and the vaginal orifice was
adequate for her age. (Fig 1B &C)

An ultrasound abdomen showed a 3cm X 2 cm well

circumscribed mass in the left suprarenal area. A. CT scan
confirmed the ultrasonographic findings. (Fig 2A)

Fig 2 A. CT scan abdomen showing well-circumscribed tumor in left adrenal.

B . Adrenal tumor specimen well encapsulated.

The tumor was present in the left adrenal 3 cm x 2 cm well

encapsulated. It was removed completely by laparoscopy.

60
Histologically the tumor was a benign adenoma. The girl is
being treated for CAH with glucocorticoids.

Discussion:

Adrenal adenomas are rare incidentalomas in CAH in children

The etiology is not clear, but is thought to be related to
inadequate glucocorticoid therapy. Tumor formation is
postulated to be a consequence of ACTH hypersecretion, which
results from the lack of glucocorticoid synthesis.1. This girl was
not taking the drugs regularly which resulted in clitoral
hypertrophy and needed surgical correction earlier . In a study,
adrenal adenomas with hyponatremia were found in 4 patients
who stopped taking drugs for CAH. Two were removed and the
other two were kept on observation due to the relatively small
size of the tumor.2 In children more often the tumor is
nonfunctional.

Functioning adrenal adenoma in association with congenital

adrenal hyperplasia has been reported in a male who had
hypertension and right thalamic hemorrhage. In this patient, the
CAH was recognized after the excision of the adrenal tumor.3

A rare case of virilization by an androgen-producing

adrenocortical tumor due to increased activity of 3β-
hydroxysteroid dehydrogenase2 and 17α-hydroxylase has been
reported.4

Functioning and non-functioning adrenal tumors are common in

adults and with varied symptoms and may be associated with
CAH but adrenal adenomas with CAH in children is very rare.

Conclusion

A rare case of benign non-functioning adrenal adenoma in a ten-

year-old girl child with Congenital adrenal hyperplasia who
underwent surgical removal has been reported. Since the girl was
61
noncompliant with drug therapy , it is assumed that the tumor
had developed due to increased ACTH stimulation of the adrenal
cortex due to deficiency of glucocorticoids. Though such tumor
are well documented in adults it is rare in children.

References

1.Jiansong Wang 1 Mary A Bissada, H Oliver Williamson :

Adrenal tumors associated with inadequately treated congenital
adrenal hyperplasia Can J Urol 2002 Jun;9(3):1563-4.

2.Jun Hyuk Song, M.D., Kyu Ha Lee, M.D., Sung Do Kim

Long-term Follow up of Congenital Adrenal Hyperplasia
Patients with Hyponatremia Electrolyte Blood Press. 2007 Dec;
5(2): 140–146.

3.A G Rohana 1, Wong Ming, S Norlela, M K Norazmi

Functioning adrenal adenoma in association with congenital
adrenal hyperplasia Med J Malaysia 2007 Jun;62(2):158-9.

4 .Guoqing Yang 1, Jingtao Dou 1, Xiaolin Zhang: Increased 3β-

hydroxysteroid dehydrogenase 2 and 17α-hydroxylase activities
in a virilized adolescent female with adrenal adenoma: A case
report Exp Ther Med . 2016 Feb;11(2):530-534.

62
Case 15 Question mark ear - Cosman ear
Abstract.

Question mark ear called Cosman's ear is a rare developmental

ear deformity, characterized by a cleft between the lobule and the
lower part of the helix, sometimes accompanied by a prominent
or deficient upper part of the helix. It may be sporadic or
familial. Herein we describe a ten-year-old boy with a question
mark anomaly of the ear which was surgically corrected. The
embryological, genetic, and surgical aspects of the above
condition are discussed.

Keywords.

Question make ear, Cosman ear, ear deformity, first and second
branchial arch anomalies.

Case report.

A ten-year-old boy came with a history of right ear deformity

from birth. He had no other anomaly and his hearing was
normal. There was no family history of similar complaints.

The right ear showed a defect in the helix and antihelix at the
junction of the upper two-thirds of the helix to the lower third.
The lobule of the ear was normal. A thin skin bridge without the
cartilage was bridging the defect. The antitragus was intact and
the cleft did not involve the concha and crus of the helix. Fig 1.
The eardrum and hearing were normal.

63
 Fig 1 Question mark ear showing the cleft like defect in helix and antihelix in
the right ear with a thin skin bridge without cartilage

Management.

Surgical correction of the ear deformity was done. Incisions were

made in the upper portion of the cleft from the lateral margin of
the helix to the inferior crus of the antihelix. The lower incision
was from the outer margin of the helix running along the tragus
to inter tragic notch. Fig 2.

The skin flaps were raised on the anterior and posterior aspects
of the defect. The antihelix which was fused to the helix above
and below the defect. They were separated and individually
sutured so that helix and antihelix are separate. The skin
approximated. The final result was satisfactory except that the
right ear looked slightly smaller than the left side.

64
 Fig 2. The line of incision and the final result.

Discussion.

The question mark ear is a malformation of the ear involving a

cleft between the helix and the earlobe This malformation was
first reported by Vincent et al. in 1961.1. Subsequently, Cosman
et al. reported two cases and named the deformity as question
mark deformity. Bard Cosman in 1970 described two cases one
in Puerto Rican and the other in Afro American 2,3,4

Embryologically the auricle develops from the tissue around the

first branchial groove. The proliferation of mesenchyme, derived
from both the first and second branchial arches, clustered at the
dorsal end of the first branchial groove, gives rise to six distinct
hillocks. They are referred to as the hillocks of His. By
convention, the hillocks are numbered 1 to 6. By day 43 to 45 of
intrauterine life , the hillocks have migrated and coalesced to
form the auricle. By week 20, the auricle is nearly anatomically
complete. The last portion of the pinna to develop is the concha.
The question mark ear is the failure of 5 and 6 hillocks to
develop normally. (Fig 3)

65
 Fig.3. The auricles develop from six hillocks. failure of 5 and 6 hillocks to
unite gives raise to question mark ear deformity. 5,6

The pathogenesis of inherited question mark ears is well

described in genetics. Endothelin A receptor controls the
development of the pharyngeal arches (including the ear and
mandible). Failure of endothelial signalling is responsible for ear
defects.7

The ear deformity is seen clinically in three different

presentations: sporadic, familial (usually autosomal dominant)
isolated ear deformity, and as a constant feature of the aurico-
condylar syndrome. Sporadic cases may be bilateral or unilateral,
while inherited cases are almost always bilateral.7,8 Patients with
the aurico-condylar syndrome have micrognathia, mandibular
hypoplasia, prominent cheeks, and bilateral question mark ears.

Management

The primary objective is to correct the ear deformity to produce

an aesthetically acceptable defect. If the gap is small, simple
mobilization of cartilages of helix and antihelix and suturing in
layers as done in the case described above is enough. However,
if the gap is wide with cartilaginous deficiency, it is corrected by
taking a strip of cartilage with perichondrium from the concha by
66
exposing it on the posterior aspect of the external ear 9. In aurico-
condylar syndrome10 where the lobule of the ear may be
deformed and totally detached, multiple staged procedures are
done.

Conclusion

Question mark ear is a rare anomaly producing ear deformity and

may be syndromic. The correction may be challenging in wide
defects. When it is syndromic, it may be associated with other
anomalies

References

1.R W Vincent, R F Ryan, C G Loganeckner Malformation of

ear associated with urogenital anomalies Plast Reconstr Surg
Transplant 1961 Aug;28:214-20.

2.Cosman B, Bellin H, Crikelair GF. The question mark ear.

Plast Reconstr Surg. 1970;46:454–457.

3. Cosman B. The question mark ear: an unappreciated major

anomaly pf the auricle. Plast Reconstr Surg. 1984;73:572–576.
doi: 10.1097/00006534-198404000-00009.

4. Cosman B, Bellin H, Crikelair GF. The question mark ear.

Plast Reconstr Surg. 1970;46:454–457. doi: 10.1097/00006534-
197011000-00006.

51C S Karmody 1, D J Annino Jr Embryology and anomalies of

the external ear Facial Plast Surg 1995 Oct;11(4):251-6.

6. Al-Qattan MM. Cosman (question mark) ear: congenital;

auricular cleft between the fifth and sixth hillocks. Plast Reconstr
Surg. 1998;102:439–441.

67
7 Clouthier DE, Garcia E, Schilling TF. Regulation of facial
morphogenesis by endothelin signaling; insights from mice and
fish. Am J Med Genet. 2010;152A:2962–2973

8. Gordon CT, Petit F, Kroisel PM, et al. Mutations in endothelin

cause recessive auricocondylar syndrome and dominant isolated
question-mark ears. Am J Hum Genet. 2013;93:1118–1125.

9. Elsahy, Nabil The Question Mark Ear Deformity and Its

Surgical Repair Plastic and Reconstructive Surgery: June 2011 -
Volume 127 - Issue 6 - p 140e-141e

10.. Kido Y, Gordon CT, Sakazume S, et al. Further

characterization of a typical features in auricocondylar syndrome
caused by recessive PLCB4 mutations. Am J Med Genet.
2013;161A:2339–2346. doi: 10.1002/ajmg.a.36066.

68
Case 16. Congenital torticollis due to
right coronal synostosis of cranium
Abstract.

Torticollis is a clinical symptom , characterized by a lateral head

tilt and chin rotation toward the side opposite to the tilt. A
common condition that produces torticollis in infancy is
sternomastoid contracture. Cranial coronal suture synostosis
producing torticollis is very rare . The case in eighteen months
old child is presented to promote awareness of the above
problem.

Keywords

Torticollis, Cranial synostosis, coronal suture synostosis,

Sternomastoid contracture. Plagiocephaly.

Case report

An eighteen months old male child was brought with the

complaint that the head is kept tilted to the right side always and
there was slight variation of the face on the right side. The
movement of the head was normal.

Clinically the head was tilted to the right with the chin pointing
to the left. The right side of the frontal area was flattened
compared to the left and similarly, the right eye was smaller and
the right superior orbital rim is elevated. There was a slight
flattening of the face on the right side Fig 1.

A diagnosis of congenital torticollis due to sternomastoid

contracture was made. However, the sternomastoid was normal.
A CT scan of the skull and the cervical vertebra was done to
exclude cranial and vertebral anomalies of the cervical vertebra.

69
Fig 1 Child with torticollis to the right side; plagiocephaly of the right frontal
area with slight flattening of face right side

The CT scan showed that the right coronal suture has undergone
premature synostosis and there was plagiocephaly on the right
side with flattening of right frontal bone. Fig 2.

Fig 2 Craniosynostosis of the right coronal suture & plagiocephaly of the right
frontal bone

Management

Surgery was done along with a neurosurgeon, An incision was

made over the right coronal suture area and the bone was

70
exposed. Bone over the whole length of the suture line was
removed and the wound approximated. Fig 3.

Fig 3 The cranial bone along the right coronal suture was removed

The child made an uneventful recovery. Physiotherapy was

given in the postoperative period . Slowly the torticollis got
corrected over a year Fig 4

Fig 4. Post-surgery the torticollis completely disappeared .

71
Discussion.

Congenital muscular torticollis associated with a contracture of

the sternocleidomastoid muscle is the most common etiology of
torticollis in infants. Structural deformities of the cervical spine,
occipital condyles, and rarely posterior fossa tumours can cause
torticollis. Acute torticollis is due to inflammatory lesions in the
neck such as acute adenitis and parapharyngeal abscess.
Torticollis in the older child is most frequently a manifestation of
atlantoaxial rotatory displacement resulting from trauma or
oropharyngeal inflammation.

Craniosynostosis producing torticollis is rare. A unique cranial

asymmetry was noted in the skeletal remains from Mokapu,
O'ahu, Hawai'i, is described where the association of
Craniosynostosis with torticollis has been recorded 1. When the
coronal suture closes prematurely, the condition is known as
anterior plagiocephaly. Premature fusion of one of the coronal
sutures may cause the skull to flatten on the affected side. This
may lead to deviation of the superior orbital rim on the affected
side.2.

Craniosynostosis can cause problems with brain growth and head

shape. In fig 2 we can see the deformity of the skull in the frontal
region and compression on the right hemisphere of the brain.
Congenital torticollis with craniosynostosis has been associated
with rhombencephalosynapsis.3 If the torticollis is associated
with neurocranial deformity but synostosis is absent, cervical
traction and physiotherapy resolve the symptoms 4

Many infants with congenital muscular torticollis have

deformational plagiocephaly and a small cohort also demonstrate
mandibular asymmetry., which improved with physiotherapy. In
the above group late onset of craniosynostosis has been
demonstrated, 5

72
Conclusion

A rare case of torticollis due to unilateral craniosynostosis is

described. He underwent corrective surgery to open up the suture
line and was near normal on follow up.

References

1. M T Douglas 1 Wryneck in the ancient Hawaiians Am J Phys

Anthropol 1991 Mar;84(3):261-71.

2. William P. Russell; Mark R. Russell. Anatomy, Head and

Neck, Coronal Suture StatPearls [Internet].

3. VirveKoljonen, JunnuLeikola, LeenaValanne,

atypicalCraniosynostosiswithTorticollisandNeurologicalS y m p t
oms:ARhombencephalosynapsisSequence: Case
r e p o r t s rhombencephalosynapsis : CorporationCase Reports
in MedicineVolume 2009, Article ID 919463.

4. A Raco 1, A J Raimondi, F S De Ponte :Congenital torticollis

in association with craniosynostosis Childs Nerv Syst. 1999
Apr;15(4):163-8; discussion 169.

5. Regina Fenton 1 2, Susan Gaetani 3, Zoe MacIsaacDescription

of Mandibular Improvements in a Series of Infants With
Congenital Muscular Torticollis and Deformational
Plagiocephaly Treated With Physical Therapy. Cleft Palate
Craniofac J 2018 Oct;55(9):1282-1288.

73
Case 17. Cranial migration of Ventriculo
peritoneal shunt - retrieval by infant
cystoscope
Abstract.

An infant with hydrocephalus underwent ventriculoperitoneal

shunt. (VPS) It needed twice revision since the reservoir was
blocked with debris, The third time a shunt without a reservoir
was inserted to prevent blockade. The whole tube got sucked
into the right ventricle of the brain. It was removed using an
infant cystoscope. Revision of VP shunt was done on the
opposite side.

Keywords

Hydrocephalus, Upadhyaya shunt, Ventriculoperitoneal shunt,

Shunt migration

Case report.

A 3-month-old child with progressive hydrocephalus underwent

Upadhyaya's Ventriculoperitoneal shunt. Within three months
the there was a shunt blockade and the block was found to be in
the cerebral catheter. The reservoir was full of debris. The
cerebral portion of the catheter was replaced and the child was
on antibiotics. Again, after three months, there was difficulty in
pumping the reservoir and the head size was increasing.
Exploration revealed a blockade in the reservoir. The cerebral
side tube was reinserted without the reservoir so that the CSF
will drain easily. After six weeks when the child came for review
the catheter was not felt. An abdominal and skull X-Rays were
taken. The whole shunt tube had migrated into the right ventricle
of the brain. Fig 1,

74
 Fig 1A. X- Ray skull showing the shunt tube in the brain. B. The shunt tube
being removed with infant cystoscope

Under general anesthesia through the original bur hole, an infant

cystoscope was passed and the shunt catheter was grasped and
removed. The VP shunt was redone on the opposite side . The
child died later with an intercurrent infection.

Discussion

When shunt surgery is done the main worry for the surgeon is
the shunt-related complications like obstruction, migration, leak,
and infections. The block may be in the cerebral side or in the
abdominal side with pseudocyst formation. Penetration into the
viscera and migration through the anus or through the stomach
can occur. A transoral migration of peritoneal end of
ventriculoperitoneal shunt in a boy of eight years was reported
by us. 1 Fig 2.

75
Fig 2. A Oral migration of VP catheter. B. Chest X-Ray lateral view shows the
catheter in the stomach migrating upwards along the esophagus. C. Catheter
seen in the stomach and cranial portion of the catheter being in normal
position. (Courtesy Journal of pediatric neurosciences by CC BY-NC-ND)

The upward migration may be into the ventricles, subgaleal

region, Subarachnoid, and brain substance. Shunts without
reservoirs like the case presented above and unishunt systems are
more prone to developing a shunt migration. It is more common
in children than in older individuals. Frequent head movements,
prone position with neck extension, the negative suction effect
produced by the anterior fontanelle over the ventricles, and
raised intraabdominal pressure are other causes of shunt
migration in children.

Conclusion.

Upward migration of VP shunt catheter into the right cerebral

ventricle retrieved through infant cystoscope is presented. It is an
uncommon complication of VP shunt though it has been well
documented

References

1.R Murali1, V Ravikumar2 Transoral migration of peritoneal end

of ventriculoperitoneal shunt: A case report of a rare
complication and review of literature. Journal pediatric
neurosciences 2008 | Volume : 3 | Issue : 2 Page : 166-168

76
Suggested reading
LS Harischandra, Anurag Sharma, Sandip Chatterjee Shunt
migration in ventriculoperitoneal shunting: A comprehensive
review of literature: Neurology of India Year : 2019 | Volume :
67 | Issue : 1 | Page : 85-99

77
Case 18. Two cases of gastric
perforation in New-born with scrotal
pneumotocele
Abstract.

Two cases of gastric perforation in newborns, one in

tracheoesophageal fistula on ventilation and the other
spontaneous gastric perforation are discussed. Both presented
with scrotal pneumotocele. Though both are well documented,
are rare presentations.

Keywords

Tracheoesophageal fistula, Perforation of the stomach,

Ventilation and stomach tear, Spontaneous gastric perforation,
Scrotal pneumatocele

Case report 1

A newborn was referred to as respiratory distress. The child’s

oxygen saturation was poor. X-ray chest showed ground-glass
opacity of the chest suggestive of RDS. The nasogastric tube
coiled in the upper esophageal pouch with air in the stomach
suggestive of esophageal atresia with fistula Fig 1

Child was ventilated and surfactant given. While on a ventilator

the child developed abdominal distention and scrotal swelling.
Scrotal swelling was rapid and showed crepitus on palpation
suggestive of scrotal pneumotocele. Fig 2

X.Ray abdomen showed gas under the diaphragm. Fig 3. It was

assumed that perforation of the stomach would have happened
by the air distending the stomach through a fistula in the trachea
during ventilation.

78
Fig 1 X Ray chest showing ground glass opacity of right lung and coiled NG
tube in upper pouch of oesophatus with gas bubble in stomach

Fig 2. Bilateral scrotal swelling with crepitus on palpation

79
 Fig 3. Gas under the diaphragm suggestive of bowel perforation.

Management

An emergency decompression of the abdomen was done by

aspiration of air through the scrotum by insertion of an intracath.
The newborn was immediately taken up for surgery. A
laparotomy showed a tear in the greater curvature of the
stomach. It was closed in two layers and a gastrostomy was
done. A right thoracotomy was done through the fourth inter-
phase and the trachea esophageal fistula was disconnected and
primary anastomosis was done. The child was weaned off the
ventilator after 72 hours. Feeds were started on the fifth day. and
gastrostomy was removed when the oral intake was adequate.
The child made a complete recovery.

80
Case report 2.

A premature male child was admitted to the newborn nursery for

abdominal distension and scrotal swelling of two days duration.
Clinically the abdomen was distended and the right side of the
scrotum was shiny and enlarged. (fig 4) Crepitus was felt on
palpation. Plain X-Ray abdomen showed gas under the
diaphragm (Fig 5)

Fig 4. Scrotum was shiny and crepitus was felt showing it was a scrotal
pneumatocele

Fig 5. Gas under diaphragm suggestive of bowel perforation.

81
Laparotomy was done and there was no obvious perforation of
the viscera. The lesser sac was opened and the posterior aspect of
the stomach showed a sealed perforation, the abdomen was
closed without any further procedures and the child made
recovery.

Discussion

Tracheo esophageal fistula usually does not need ventilation. But

in premature newborns with respiratory complications like
associated RDS will need ventilatory support. Gastric perforation
is a well-recognized complication of oesophageal atresia with
distal tracheo-oesophageal fistula.1 Need immediate surgery
since progressive distension of the abdomen may worsen the
respiratory distress and child may become severely hypoxic with
mortality. They need immediate decompression of the distension
by peritoneal aspiration or incision. Aspiration can be done
through scrotal pneumotocele as done in the cases above.
Laparotomy and closure of the gastric tear and gastrostomy are
done. In the ventilated child the gastrostomy allows the air from
the fistula to go out while thoracotomy is being planned. There
are centers where thoracotomy and ligation of the fistula are
done first after the initial flank drain to let out the air. 2 If the
child is sick initial abdominal drain is done first and definitive
surgery is done when the neonate is stable.3

Other causes of spontaneous perforation of the stomach are

malrotation of gut,4 duodenal and upper jejunal obstructions,
diaphragmatic hernia and eventration 5..In the second case it was
a sealed perforation. A combination of increased pressure and
immature muscular development and sepsis predisposes to
gastric rupture.

Conclusion. Two neonates presented with gastric perforation,

one with ventilatory support induced gastric tear and the other

82
spontaneous perforation of the stomach. Both presented with
scrotal pneumotocele with abdominal distension. Decompression
of the distended abdomen was done by aspiration of air from the
scrotum. The management options in tracheoesophageal fistula
with gastric rupture and spontaneous gastric perforation of the
stomach are discussed

References

1.K Maoate 1, N A Myers, S W BeasleyGastric perforation in

infants with oesophageal atresia and distal tracheo-oesophageal
fistula Pediatr Surg Int1999;15(1):24-7.

2. Kirti Kumar Rathod 1, Monika Bawa, Jai K Mahajan, Ram

Samujh, Katragadda L N Rao Management of esophageal atresia
with a tracheoesophageal fistula complicated by gastric
perforation. Surg Today Epub 2011 Sep 16.

3,Mustafa Okumuş 1, Adil Umut Zübarioğlu 2, Reşit

AtalanTreatment of two newborns with esophageal atresia and
distal tracheoesophageal fistula complicated by gastric
perforation: choosing the simple way Acta Chir Belg. 2020
Aug;120(4):282-285.

4. Prabudh Goel 1, Minu Bajpai 1, Murli Krishna Nagendla 1,

Akhil Sin Gastric Deserosalization: What Lies Behind Closed
Doors J Indian Assoc Pediatr Surg . Oct-Dec 2018;23(4):216-
218

5.Jeik Byun, Hyun Young Kim, Seung Yeon Noh Neonatal

gastric perforation: A single center experienceWorld J
Gastrointest Surg. 2014 Aug 27; 6(8): 151–155.

83
Case 19. Congenital diaphragmatic
hernia left side with intrathoracic renal
ectopia
Abstract.

A neonate with bilateral undescended testis was incidentally

found to have an absent kidney in an ultrasonogram in the
abdomen. Further investigations revealed that the kidney was in
an intrathoracic position with a congenital diaphragmatic hernia.
Surgery was done with correction of the diaphragmatic defect
and reducing the kidney to the orthotopic position.

Keywords

Intrathoracic kidney, Congenital diaphragmatic hernia, Renal

ectopia

Case report

A four-day-old male child was seen with bilateral undescended

testis and was subjected to ultra-sonogram examination as the
testis was not clinically palpable. The ultrasonogram reported
that the testes were seen in the inguinal regions on both sides and
the left kidney was not visualized. A DMSA scan was done
which showed that the left kidney was inside the thorax with
normal secretion and the right kidney was in normal position and
function. Fig.1

A chest X-ray showed that the herniation of bowel into the

thorax with medial opacification suggestive of the herniated
kidney. Fig 2

84
Fig 1 DMSA scan showing left kidney in the thorax and right kidney in normal
position

Fig 2 X Ray chest: herniated bowel and left kidney in thorax through left CDH

85
A CT scan of the chest and abdomen showed that the major
portion of the kidney has herniated into the thorax through a
diaphragmatic hernia.

Fig 3 CT chest showing left CDH with intra thoracic kidney

Management.

The child was taken up for surgery. There was a left sided
posterolateral diaphragmatic hernia with herniation of the small
bowel and a major portion of the left kidney. The contents were
reduced into the abdomen and the diaphragm was repaired. The
kidney was placed in its normal position Fig 4. The child made
an uneventful recovery.

Fig 4 Left intra thoracic kidney reduced to normal place

86
Discussion.

Kidneys can be ectopic in the pelvis, iliac, thoracic, and maybe

cross renal ectopia. They may be asymptomatic and picked up
during routine ultra-sonograms done for unrelated complaints.
When the kidney is not found in its normal place it is necessary
to check the ectopic positions. While the abdominal ectopic
positions will be picked by routine scanning, the need to look at
the thorax for the ectopic position is mandatory. By and large
such renal ectopia in the thorax happens with diaphragmatic
hernia or eventration

Pfister-Goedeke, E Brunier classified it is as follows: 1. real

thoracic ectopia with the normally developed closed diaphragm,
2. eventration of the diaphragm, 3. diaphragmatic hernia: a)
congenital diaphragmatic defects, b) acquired herniation
(Bochdalek's). 4. traumatic rupture of the diaphragm with renal
ectopia. 1. Right-sided intrathoracic renal ectopia with
Bochdalek's hernia has been described.2 A number of theories
have been proposed. Malter & Stanley 3 suggested superior
migration of metanephros before completion of diaphragmatic
development during the eighth week of gestation. Yalcinba
theorized that thoracic renal ectopia may result from the delayed
closure of the diaphragm or accelerated ascent of the kidney
before normal closure 4.

When asymptomatic ectopic kidneys in the thorax are seen in

adulthood many become symptomatic and the need to bring
them in orthotropic position early is emphasized. In a study by
Arunraj in adults, the median age was 53.5 years, with no gender
predominance. 68% (27/34) of cases were symptomatic. 29%
(10/34) had a significant complication associated with their
intrathoracic kidney, with 3 cases with either documented
chronic or end-stage kidney disease. 26% (9/34) required
surgical intervention. 5.
87
Management.

The treatment is essentially the repair of the diaphragmatic

hernia and repositioning the kidney to the orthotopic site. In this
case, it was done through an open procedure. Thoracoscopic
reduction of the bowel, kidney, and adrenal gland into the
abdomen and primary closure of the defect was achieved with no
complications in one case.6

Conclusion

Radiologists should consider examining the thorax before

labeling a patient with the absence of a kidney in renal fossa as
having unilateral renal agenesis.7 Congenital diaphragmatic
hernia or eventration is associated with thoracic renal ectopia.
With the advancement of minimal access surgery, it would be
possible to repair the diaphragmatic hernia and reposition the
kidney to its normal place.

References

1. L Pfister-Goedeke, E Brunier :Intrathoracic kidney in

childhood with special reference to secondary renal transport in
Bochdalek's hernia ‘ Helv Paediatr Acta, 1979 Sep;34(4):345-57.
Pubmed

2 Vairavan S Subramaanian, David A Goldfarb : Right sided

intrathoracic renal ectopia with Bochdalek’s hernia , urology
2008.05.012

3.Malter IJ, Stanley RJ (1972) The intrathoracic kidney: with a

review of the literature. J Urol 107: 538– 541.

4. Yalcinbas YK (2001) Thoracic kidney: a differential

diagnostic dilemma for thoracic surgeons. Am Thorac Surg 72:
281– 283.

88
5.Arunraj Navaratnarajah 1, Vaughn Barry 1, Rawya
CharifBochdalek hernias associated with intrathoracic kidney: A
case report and systematic review of outcomes including renal
function Clin Nephrol Case Stud 2020 Jan 28;8:1-11.

6. Colin Mizzi 1, David Farrugia 2, Muhammad S Choudhry

Congenital Diaphragmatic Hernia with Intrathoracic Renal
Ectopia: Thoracoscopic Approach for a Complete Anatomical
Repair: European J Pediatr Surg Rep Epub 2020 Oct 21.

7.Kamal N. Rattan, Seema Rohilla, Rajat Narang, Simmi K.

Rattan, Sarita Maggu, Dhara B. Dhaulakhandi Thoracic kidney
associated with congenital diaphragmatic hernia, Congenital
anomalies Volume 49, Issue 3 September 2009 Pages 118-120

89
Case 20. Large Prostatic utricles in non
hypospadiac infants
Abstract.

Prostatic utricles are commonly seen as associated malformation

in proximal hypospadias and intersex disorders. Herein we
describe two large prostatic utricles one being a giant size in
children with normal external genitalia. The various surgical
options are discussed.

Keywords

Prostatic utricle, Giant prostatic utricle, Hypospadias, Intersex

disorders Recurrent epidydymo orchitis

Case 1.

A newborn male child presented with suprapubic swelling. The

urinary stream through the penile urethra without hypospadias
was normal. Ultra-sonogram was suggestive of a large cyst
arising from the level of the prostatic urethra. A micturating
cystourethrogram showed a giant prostatic utricle arising from
the prostatic urethra, the rest of the urethra being normal. Fig 1.

Fig 1 Giant prostatic utricle with normal bladder & urethra

90
Cyst excision was done through the transperitoneal route. the vas
deference was ending in the cyst close to the prostatic urethra. A
small cuff of the cyst was left behind to protect the vas and was
sutured.

Case 2.

A six-month-old child with recurrent urinary infection was

investigated and found to have a prostatic utricle of moderate
size. A micturating cystourethrogram showed a moderate-sized
prostatic utricle arising from the prostatic urethra. Fig 2.

Fig 2. MCU showing moderate size prostatic utricle opening at prostatic

membranous urethral junction

A cystoscopy was done and the prostatic utricle orifice was

visualised in the posterior urethra and a ureteric catheter was
passed into the prostatic utricle. Laparotomy was done and a
moderate sized prostatic utricle was seen. The vas was carefully
separated on either side and a small cuff of the utricle was left
behind attached to the urethra to avoid injury to the vas and the
cuff was closed. Fig 3.

91
 Fig 3A. Prostatic utricle of moderate size; 3B. Ureteric catheter in utricle is
seen; dissection of prostatic utricle from the bladder

Discussion

Prostatic utricle cysts are remnants of the Mullerian duct system

or decreased androgenic stimulation of the Mullerian system.1
Many are associated with hypospadias and intersex disorders.
The majority are asymptomatic and diagnosed incidentally.
When symptomatic it produces urinary problems like urinary
infection, stone formation, recurrent epidydymo orchitis,
retention, and dribbling of urine, occasionally malignancy occurs
in the utricle in adult age.

IKOMA classified the prostatic utricle into four stages. Grade 0:

opening located on the posterior urethra but the utricle does not
extend over the verumontanum; Grade I: larger than Grade 0 but
it does not reach bladder neck; Grade 11: more enlarged and its
dome extends over the bladder neck. The prostatic utricle opens
into the central area of the verumontanum in the prostatic urethra
in Grades 0, I, and II. In rare cases, the opening is situated in the
bulbous urethra just distal to the external sphincter and this is
classified as Grade III.1
92
 Fig 4. Grades of prostatic utricle by Ikoma et al.1

When associated with hypospadias the prostatic utricle is more

common with proximal hypospadias such as perineal, scrotal,
and penoscrotal. In the cases described above the prostatic utricle
was seen with the normal urethral passage. Prostate utricles
without external genital anomalies are rarely reported in children
and are easily missed and misdiagnosed. They are often
accompanied by recurrent urinary tract infections, lower urinary
tract symptoms, epididymitis, dysuria, and other symptoms. 2.
Schuhrke and Kaplan3 reported a 3% incidence of malignancy in
prostatic utricle.

Management

Asymptomatic small prostatic utricles can be observed, and

others need surgical removal. Different methods of removal of
the cyst have been attempted. Prostatic utricle cysts have been
dealt with endoscopically by cyst orifice dilatation, incision, or
unroofing. Transperineal cyst aspiration and sclerotherapy by
tetracycline under transrectal ultrasound guidance have been
done. Perineal, suprapubic, extravesical, extraperitoneal [4]
transperitoneal, parasacral, posterior sagittal [5] transvesical
transtrigonal, retropubic, transanorectal, posterior, or anterior
sagittal approaches have been described.

In the above two cases, the transperitoneal route has been chosen
to remove the cysts taking care to avoid injury to vas, seminal
vesicles by leaving a small cuff of the prostatic utricular cyst.

93
Laparoscopic excision of the cyst has also been done [6]. The
advantage is the magnification to see the course of the vas and
seminal vesicles in the depth of the pelvis. Robotic excision of
the cyst has been reported. [7]

Conclusion. A giant prostatic utricle and another large prostatic

utricle in non-hypospadias infants is presented. Giant prostatic
utricle of this magnitude is rare. They were removed by the
transperitoneal route. The other options of management by,
endoscopy, surgical, laparoscopy, and robotics are discussed

References

1.Ikoma, H. Shimaand H. Yabumoto British Journal of Urology

Classification of Enlarged Prostatic Utricle in Patients with
Hypospadias F. 5’1, 334-337 0 1985.

2.Bo Liu 1 2, Dawei He 3 4, Deying Zhang 1, Xing Liu 1, Tao Lin 1

2
, Guanghui Wei, Prostatic utricles without external genital
anomalies in children: our experience, literature review, and
pooling analysis , BMC Urol . 2019 Apr 3;19(1):21.

3. Schuhrke TD, Kaplan GW. Prostatic utricle cysts (Mullerian

duct cysts) J Urol. 1978;119:765–7.

4.Mehmet Incedayi,1 Ali Kemal Sivrioglu,2 Guner Sonmez,1 and

Ersin Ozturk Large prostatic utricle cyst Cyst removed through
extra peritoneal route. BMJ Case Rep. 2013; 2013:
bcr2012008123.

5.Mukunda Ramachandra, Pradnya S. Bendre, Rajeev G.

Redkar, and Devendra V. Taide.Isolated prostatic utricle
(PSARP) J Indian Assoc Pediatr Surg. 2009 Oct-Dec; 14(4):
228–229.

6.Ashish Jiwane, S. V. S. Soundappan, John Pitkin, and Daniel

T. Cass Successful treatment of recurrent epididymo-orchitis:

94
Laparoscopic excision of the prostatic utricle Indian Assoc
Pediatr Surg. 2009 Jan-Mar; 14(1): 29–30.

7 AntonioMacedoJr.abRicardoDel Debbio Di MigueliabSérgio

LeiteOttoniabRobotic-assisted excision of a prostatic utricle cyst
in a 12-month boy with proximal hypospadia and 45X0/ 46XY
karyotype Journal of Pediatric UrologyVolume 16, Issue 5,
October 2020, Pages 725-726

95
Case 21. Meconium peritonitis
presenting as post neonatal intestinal
obstruction in children
Abstract.

Two children with subacute colonic obstruction had dense

localised fibrosis around the recto sigmoid and descending colon
resulting in stenosis in one child and the other mimicking
Hirschsprung’s disease.

There was evidence of speck of meconium. with dense fibrous

tissue around which histologically showed foreign body giant
cells and macrophages. Meconium peritonitis is usually
symptomatic soon after birth, but delayed presentations as
intestinal obstructions are very rare.

Keywords

Meconium peritonitis, Intestinal obstruction. Colonic strictures,

post neonatal intestinal obstruction

Case report.1

A one-month-old girlchild was seen with gross distension of

abdomen progressively increasing since birth. Fig 1. The
meconium history was normal. The child was passing small
quantities of motion daily.

Contrast enema was done which showed stenosis of rectum at

the rectosigmoid junction with trickle of dye going into the
descending colon. Fig 2

96
 Fig 1 Gross distention of abdomen in one-month-old child

Fig 2 Contrast enema showing stricture at recto sigmoid with a trickle of dye
going up

A diagnosis of stricture rectum was made and the child was

taken up for surgery. Laparotomy showed a dense stricture at the
rectosigmoid junction, narrowing the colon with proximal
hypertrophy of the bowel. At the strictured area of the bowel,
there was a single greenish-red nodule suggestive of prenatal
bowel perforation with localized meconium peritonitis. Fig 3.

97
 Fig 3a Showing dense adhesions at recto sigmoid with proximal colon
dilatation b; meconium nodule; c magnified view of meconium nodule

The adhesions were released, the stenosed area resected and

primary anastomosis done. The histology of the meconium
nodule showed foreign body giant cells and macrophages.

Case 2.

A one-month-old child was admitted with abdominal distension

and failure to pass motion regularly. The meconium history was
normal. Other investigations including thyroid profile were
normal.

A clinical diagnosis of Hirschsprung’s disease was made and a

contrast enema was done. The contrast enema showed that the
rectum and distal portion of the sigmoid were normal with
narrowing of the proximal sigmoid. There was dilatation of the
descending colon. Fig 3

Laparotomy was done in the child and it showed a grossly

dilated descending colon with dense fibrosis around the proximal
sigmoid. The narrowed sigmoid and the adhesions were removed
and a biopsy of the descending colon and rectum was done. The
descending colon and distal sigmoid were brought out as
colostomy. The ganglion cells were present in the biopsy
98
specimens of the colon and the rectum excluding
Hirschsprung’s. The fibrous tissue showed a foreign body
reaction. The colostomy was closed later.

Fig 3. Contrast enema rectum showing narrowing of the proximal sigmoid with
dilatation of the descending colon

Discussion

Meconium peritonitis is due to antenatal bowel perforation

resulting in leakage of meconium into the peritoneal cavity. It
results in chemical peritonitis. If the leak is small it heals and
may get calcified. If the leak is large it produces vascular
adhesions and bowel obstructions.

The cause of bowel perforation may be due to atresia,

malrotation with volvulus, intrauterine intussusception, or
spontaneous bowel perforations. It may result in extensive
calcifications or the formation of large cystic cavities containing
meconium due to bowel rupture. Minor perforations may be
asymptomatic, but the majority produce bowel obstruction with

99
large cysts with areas of calcification and present in the neonatal
period needing immediate surgical management.

Intrauterine bowel perforation which has healed but producing

vascular localized adhesions may manifest as a subacute
obstruction in the postneonatal period. Daylan and
Ramakrishnan in 1974 reported five children past the neonatal
period presenting with intestinal obstruction due to meconium
peritonitis. None had previous symptoms shortly after birth.
Surgical intervention was successful in four patients; one was
managed conservatively.[1]

The two patients presented above had abdominal distension and

failure to pass motion freely simulating Hirschsprung’s disease.
In case one the contrast study was confirmatory of stricture of
the rectosigmoid junction and hence primary resection and
anastomosis were done and in case two, there was a suspicion of
Hirschsprung’s disease hence the procedures were done in two
stages.

Both had localized dense adhesion in the rectosigmoid area with

a speck of meconium. Histologically the fibrous elements
showed foreign body reactions. It is probable that the intrauterine
leak of meconium was minimal and hence healed sans general
peritonitis.

Conclusion

Two infants with localized meconium peritonitis presented with

sub-acute obstruction with abdominal distension. Both had
localized dense fibrosis in the sigmoid colon area needing
surgical correction. Except for an occasional reference, it is an
extremely rare presentation.

100
Reference.
1. N.Dayalan, M.S.Ramakrishnan Meconium peritonitis:
postneonatal intestinal distention. J Pediatr Surg. 1974
Apr;9(2):243-4

101
Case 22. Intraluminal calcification of
meconium in the bowel of newborn
Abstract.

A neonate prenatally diagnosed as a choledochal cyst with a

duplication cyst was found to have intraluminal calcification of
bowel postnatally with multiple intestinal atresias. and
choledochal cyst. It had chalky meconium in the jejunum with
multiple atresias needing multiple anastomoses. The child had
respiratory distress and died due to gram-negative septicemia. It
is being presented due to the rarity of calcification of meconium
inside the bowel.

Keywords.

Intraluminal calcification of meconium, intra mural calcification

of the bowel. intestinal atresia.

Case report.

A 35-week preterm male child was prenatally diagnosed to have

a choledochal cyst with duplication of the bowel. was delivered
by vaginal assisted delivery, The neonate had respiratory distress
(RDS) and needed mechanical ventilation. The X-ray chest
showed ground-glass opacity on the right side. The abdomen
showed sparse air with intraluminal calcification in the bowel on
the left side of the abdomen. Fig1

102
 Fig 1 Chest showing infiltration of right lung due to RDS. Abdomen showing
sparse gas shadow with intraluminal calcification of bowel

Management.

On laparotomy, the child had a fusiform choledochal cyst with

multiple intestinal atresias. The proximal jejunum above the
atretic segment contained chalky material. The transverse colon
was patent. Multiple intestinal anastomoses and a Bishop Koop
anastomosis to the transverse colon was done with 5 French
feeding tube as a stent across the intestinal anastomosis. The
child was ventilated for five days and was on partial parenteral
nutrition thereafter.

The respiratory distress worsened and needed reintubation and

the neonate developed gram-negative sepsis and died.

Discussion.

The majority of intra-abdominal calcifications are extra-

intestinal and due to prenatal bowel perforations producing
spillage of meconium into the peritoneal cavity. Bowel
calcifications per se are extremely rare. They can be either

103
intraluminal or intramural. There are very few pertinent
references to the above subject. The earliest reported cases were
with bowel obstructions. Camp Roberts 1 reported the first case
with intestinal atresia followed later by Khilani 2 in a neonate
with anorectal malformation.

P.P.Rickham 3 described a child without any obvious intestinal

obstruction where enterotomy and removal of the calcified
meconium was done and there was no obvious obstruction.
However surprisingly the intestinal contents were resolidified
and re-calcified and the child ultimately died. Exhaustive
analysis of the calcified meconium did not reveal the cause for
calcification.

Hillcoat 4 reviewed the four previous cases and described two

more instances of intraluminal intestinal calcification in newborn
babies, both with imperforate anus. Brodribb reported a case of
calcification that was situated in the wall of the small intestine
and it was seen in antenatal radiographs of the maternal abdomen
at least three weeks before birth. This child also showed
obstruction to the small bowel.5 From India Suchita 6 also
reported intramural calcification of the bowel in jejunal atresia.

Conclusion.

Intrauterine bowel calcification may be intraluminal or

intramural. Most of them seem to develop in neonates with
congenital intestinal obstruction, though rarely it may be with
normal distal bowel. In our case there was intraluminal
calcification in a neonate with multiple atresias. The exact cause
of the intraluminal calcification is not known.

References

1.Camp R Roberts M.H 1949 American J diseases of childhood

78 393

104
2..Khilani,M.T Wolf B.S. Arnheim EE 1955 J Mt Sinai hospital
22 58

3. .P. P. Rickham: .Intraluminal Intestinal Calcification in the

Newborn*Arch Dis Child. 1957 Feb; 32(161): 31–34.

4. B.L. Hillcoat : Calcification of the meconium within the

bowel of the newborn Arch Dis Child . 1962 Feb;37(191):86-9.

5. Lt.-Col. J. H. G. Brodribb Intramural Calcification and

Stenosis of the Small Intestine of the Newborn The British
Journal of RadiologyVol. 37, No. 433

6. S Suchitha, BN Kumarguru,1 Sunila, and GV Manjunath

Neonatal Intramural Calcification in Jejunal Atresia: Case
Report of a Rare Phenomenon Int J Appl Basic Med Res. 2017
Oct-Dec; 7(4): 258–260

105
Case 23. Congenital adrenal hyperplasia
with virilisation due to 3β-Hydroxy
steroid dehydrogenase deficiency in
twins
Abstract.

3β-Hydroxysteroid dehydrogenase deficiency (3β-HSD)

resulting in congenital adrenal hyperplasia (CAH) is a rare
condition. Herein we present the above condition in twins
producing virilization of external genitalia. The diagnosis was
made after the synthetic ACTH test showed high values of
dehydroepiandrosterone in both children. Replacements with
glucocorticoids and mineralocorticoids did not significantly
reduce the size of the clitoris which had painful erections
necessitating resection clitoroplasty at three years of age.

Keywords.

3β-Hydroxysteroid dehydrogenase deficiency, Congenital

adrenal hyperplasia, virilization

Case report

A full-term girl twins born to non-consanguineous parents was

admitted for hyperpigmentation of the body with virilisation of
external genitalia. There was moderate enlargement of clitoris .
Fig 1.

The karyotype was 46 XX for the twins. Ultra sound showed

normal female anatomy. A synthetic ACTH test done showed
very high values of Dehydroepiandrosterone (DHEAS) which is
diagnostic of 3β-HSD. Fig 2.

106
 Fig 1 Twins with 3 beta HSD, virilised & hyperpigmented

Fig 2. ACTH stimulation test showing significant rise in DHEAS levels in the
twins diagnostic of 3β-HSD

The children were put on glucocorticoids and mineralocorticoids.

Their growth and development were normal. Fig.3

Fig 3 Children at one and two years of age.

107
However, in spite of adequate dose of glucocorticoids and
mineralocorticoids the regression of the clitoris was not
significant. Parents complained that the children were having
painful erections especially while passing urine. They wanted to
put the children in preschool and felt that the enlargement of the
clitoris is a social embarrassment. The children underwent
resection clitoroplasty. The vagina was normal. Subsequent
follow-up showed that they were asymptomatic.

Discussion

3-Beta–hydroxysteroid dehydrogenase (3BHSD) deficiency is a

rare form of congenital adrenal hyperplasia .3β-HSD II is
necessary for the conversion of pregnenolone to progesterone,
17α-hydroxypregnenolone to 17α-hydroxyprogesterone, and
dehydroepiandrosterone (DHEA) to androstenedione in the
adrenals 3β-HSD II also mediates an alternate route of
testosterone synthesis from androstenediol in the testes. 3β-HSD
deficiency results in large elevations of pregnenolone, 17α-
hydroxy pregnenolone, and DHEA. Mineralocorticoids,
glucocorticoids, and sex steroids are deficient Fig 4.

108
While in the female the elevated DHEA produces mild
virilization of the external genitalia, in the male the deficiency of
3β-HSD II produces under virilization of the external genitalia. If
they are reared as girls, they virilize at the time of puberty due to
testicular stimulation of high levels of LH.

In an XX (genetically female) fetus, elevated amounts of DHEA

can produce moderate virilization by conversion in the liver to
testosterone. Virilization of genetic females is partial, often mild,
and rarely raises assignment questions. The issues surrounding
corrective surgery of the virilized female genitalia are the same
as for moderate 21-hydroxylase deficiency but surgery is rarely
considered desirable. (1)

In male children undervirilization of genetic males with 3β-HSD

CAH occurs because the synthesis of testosterone is impaired in
both adrenals and testes. Although DHEA is elevated, it is a
weak androgen and too little testosterone is produced in the liver
to offset the deficiency of testicular testosterone. The child may
have hypospadias, bilateral undescended testis.

It is the only form of CAH that can cause ambiguity in both

sexes.3β-HSD is rare and in twins, it is probably the first case. In
spite of adequate steroid replacement, the child had
clitoromegaly and painful erections which necessitated resection
clitoroplasty. It is documented that in 3βHSD2 deficiency it
seems to be more difficult to suppress the androgens. (2)

Conclusion

3β-Hydroxysteroid dehydrogenase deficiency resulting in

congenital adrenal hyperplasia is a rare condition. It is still rarer
in twins. It results in a combined deficiency of glucocorticoids,
mineralocorticoids, and sex hormones. In this child, it was not
salt-wasting but the virilization did not reduce significantly in
spite of adequate steroid replacements. Parental concern in the
109
school going child and painful erections needed resection
clitoroplasty,

Reference

1,S Pang Congenital adrenal hyperplasia owing to 3 beta-

hydroxysteroid dehydrogenase deficiency Endocrinol Metab
Clin North Am 2001 Mar;30(1):81-99, vi-vii.

2.AM Al Alawi, A Nordenström, H Falhammar Clinical

perspectives in Congenital adrenal hyperplasia due to
3beta hydroxysteroid dehydrogenase type 2 deficiency.
- Endocrine, 2019

110
Case 24. Juvenile granulosa cell tumour
of the ovary with precocious puberty in a
six-month-old child
Abstract.

A six months old girl child presented with enlargement of the

breast with hyperpigmentation of the areola. Clinically she had a
suprapubic mass and diagnosed as right ovarian tumour.
Excision was done and the histology report was juvenile
granulosa cell tumour. It is a rare presentation in a small child
with signs of precocious puberty.

Keywords : Precocious puberty, Juvenile granulosa cell tumour,

Ovarian tumour

Case report.

A six-month-old girl child was seen with bilateral enlargement

of breasts with hyperpigmentation. The child was otherwise
normal and there was no vaginal bleeding. Clinical examination
revealed a movable solid mass arising from pelvis extending to
umbilicus. A clinical diagnosis of ovarian tumour was made.
(Fig 1)

In view of signs of precocious puberty, the estimation of

estrogen levels was done and was found to be elevated. An
ultrasound confirmed the diagnosis of a right ovarian tumour.
The left ovary and uterus were normal. A laparotomy revealed a
large solid tumour arising from the right ovary stretching the
right fallopian tube. The uterus and the left ovary were normal.
(fig 2)

111
Fig 1A. Six month old child with bilateral breast enlargement & darkening of
the areola. 1B. Suprapubic firm mass extending up to umbilicus

Fig 2 Large right ovarian tumor smooth stretching tube; Uterus normal

The child made an uneventful recovery. The tumour histology

was that of a juvenile granulosa cell tumour of the ovary and did
not show any evidence of malignancy. Regular follow up of the
child showed regression of hyperpigmentation of areola and
there was no further enlargement of breast or recurrence of
tumour.

Discussion

Juvenile granulosa cell tumour (JGST) is a rare tumour of the

ovary in children and can happen in adults also. GCTs belong to
ovarian sex cord-stromal tumours. These are usually benign.
Among adolescents, JGCT often causes menstrual irregularities,

112
virilization, abdominal swelling, and pain. When JGCT is
limited to the ovaries the outcome is excellent with salpingo-
oophorectomy. 1

Ovarian neoplasms form about 1 % of the tumours in children of

which 3 to 7 % are JGCTs. Apart from abdominal mass majority
present with breast enlargement, vaginal bleeding, abdominal
pain. Occasionally they have presented as torsion of the ovary
and reported in a child with isosexual precocious puberty.2 A
child developed a tumour of JGST while being treated for central
precocious puberty by GnRH analogues.

It is theorised that the overstimulation of the FSH or aberrant

activation of FSH receptors may have contributed to the
development of the mass3. Late development of tumour on the
normal side in a child that is histologically different from GST
has been reported, The child developed serous cystadenoma on
the normal side 4. Juvenile GCT are typically unilateral and
confined to the ovary at diagnosis Greater than 90% are FIGO
stage I at diagnosis 5 .

Conclusion

Juvenile GCT is a rare ovarian tumour and due to its estrogen

secreting properties, it produces precocious puberty with breast
enlargement and vaginal bleeding, and pain due to the mass.

Ultrasonography will pick up the tumour though may not be able

to differentiate the histological type. A unilateral salpingo-
oophorectomy is curative since the tumour in children is
essentially a benign tumour and carries a good prognosis.

References

1..Laura Merras-Salmio 1, Kim Vettenranta, Merja Möttönen,

Ovarian granulosa cell tumors in childhood Pediatr Hematol
Oncol . Apr-May 2002;19(3):145-56.
113
2,Nisha Nigil Haroon 1, Gaurav Agarwal, Rakesh Pandey, Preeti
Dabadghao Juvenile granulosa cell tumor presenting as isosexual
precocious puberty: A case report and review of literature. Indian
J Endocrinol Metab 2013 Jan;17(1):157-9.

3.Valeria Calcaterra 1, Ghassan Nakib, Central precocious

puberty and granulosa cell ovarian tumor in an 8-year old female
Pediatr Rep 2013 Jul 29;5(3):e13.

4. Le Anh Viet 1, Hoang-Thi Kim Khuyen 1Coincidence of

juvenile granulosa cell tumor and serous cystadenoma in a
pediatric patient: Case report and literature review Radiol Case
Rep 2021 Jul 1;16(9):2370-2375.

5.Gittleman P. Radiology–pathology conference: juvenile

granulosa cell tumor. Clin imaging. 2003;27(4):221–224.

114
Case 25. Pseudo penile appendages in
girl children masquerading as
ambiguous genitalia
Abstract.

Two girl children one in the neonatal period and the other at 6
months of age presented penis-like appendages in the perineum
which was removed. Histologically they did not contain corpora
or urethra, only skin and subcutaneous tissue were present. It is
difficult to explain embryologically. Presented here for its
extreme rarity.

Keywords.

Penile appendages, Ambiguous genitalia, Pseudo penis.

Case report 1.

A girl neonate was brought to the hospital for an abnormal

appearance of external genitalia. Clinically the vestibule, urethra,
and vagina were normal in position. The was a 2 cm penis-like
appendage on the right upper portion of labia with a swelling in
the right labia majora. (Fig 1)The right labia did not contain any
gonad on palpation.. An ultrasound abdomen showed the uterus
and ovaries and the karyotype was 46 XX.

During surgery, the penile appendage was soft with no evidence

of any corpora or urethral opening. The bulging labia did not
contain any gonad. The penile appendage and the redundant right
labia were excised and reconstructed. Histologically the penis
like structure had only skin and subcutaneous tissue without any
evidence of corpora or urethral remnants.

115
Fig 1 Girl child with normal urethra and vagina with small penis like structure
with enlargement of right labia looking like scrotum. But it was smooth without
rugosity & clinically gonad was non palpable

Case 2.

A six-month-old child reared as girl came to the hospital for an

abnormal appearing lesion in the perineum since birth. Clinically
the vestibule, urethra, and vagina were normal. Just below the
vestibule, there was penis-like structure of 3 cm. soft on
palpation and when the skin was retracted there was no urethral
orifice except for a small dimple. (Fig 2)The ultrasound
abdomen was normal.

Fig 2 A. Penis like structure just below the vestibule; urethra & vagina normal;
B. Retraction of the skin of the penile structure showed no orifice except a
small dimple.

116
The child was taken up for surgery and the penile appendage was
removed. It had only skin and subcutaneous tissue and the
corpora and urethra were missing. The child made an uneventful
recovery.

Discussion.

Pseudo penile appendages in female children are extremely rare

presentations. In case one in addition to the penile appendage the
right labia also showed enlargement simulating a scrotum though
the rugosity was not there and empty without a gonad. The exact
aetiology is not known. A search of literature especially in ovo
testicular DSD did not reveal any similar appearance though
investigations were suggestive of normal female anatomy in the
abdomen.

In the second case, the penile-like appendage contained only skin

without a corpora. Again penile-like structures in ectopic
positions in the perineum have not been reported. In an article on
“ Normal and abnormal Prepuce” by Mohammad A. the
embryological sequence of events of prepuce formation in the
penis has been detailed but no reference to prepuce-like
structures in ectopic position 1. Similarly Liu1, Joel Shen, in
“human glans and prepuce development” dealt in detail the
normal preputial development but has not mentioned the
development of prepuce in an abnormal location.2

Conclusion.

Two extremely rare pseudo penile appendages in two girl

children masquerading as ambiguous genitalia are presented. The
girls were both externally and internally normal. The redundant
appendages histologically showed only skin without corpora or
urethral remnants. They were removed.

References

117
1.Normal and Abnormal Prepuce pp 29-33| Mohamed A. Baky
Fahmy pringer, Cham. https://doi.org/10.1007/978-3-030-
37621-5_4

2. Liu1 , Joel Shen, Aaron Y.Human glans and preputial

development☆ Xin Liu1 , Ge Differentiation Science digest
Volume 103, September–October 2018, Pages 86-9

118
Case 26. Ankyloglossia superior in a
child with cystic partially differentiated
nephroblastoma.
Abstract.

A 17-month-old child who presented with left loin swelling was

diagnosed as left kidney tumour which after removal was found
to be cystic partially differentiated nephroblastoma (CPDN)
with ureteric extension. During the anaesthetic assessment, the
child was found to have ankyloglossia superior and a soft tissue
mass on the gum over the right upper incisor. They were dealt
with during surgery of the renal tumour. Ankyloglossia superior
is associated with a number of syndromes and clinicians should
have a high degree of suspicion for other congenital anomalies
when a neonate is found to have ankyloglossia superior.1

Keywords

Ankyloglossia superior, cystic partially differentiated

nephroblastoma, craniofacial anomalies, Moebius syndrome,
Oromandibular-limb hypogenesis syndromes, Intraoral band.

Case report

A one-year five-month-old child presented with left loin swelling

and was diagnosed to have a left multiloculated cystic renal
tumour. It was posted for surgery and during the anaesthetic
assessment, the child was found to have a tongue tie superior. A
thick band of tissue was fixing the tongue to the palate at the
junction of the hard and soft palate and also a soft tissue swelling
attached to the gum at the level of the right upper incisor. Fig 1.
Except for the renal tumour, there were no other anomalies

119
Fig 1. Ankyloglossia superior where posterior third of the tongue is attached to
the hard palate & a soft tissue swelling attached to gum over the right upper
incisor

The child was operated upon. Since oral intubation was not
possible, nasal intubation was successful and the thick superior
tongue tie was divided and the gum mass was removed. The
nasal intubation was changed to oral for the major surgical work
of nephroureterectomy of the renal mass. [2]

Fig 2A . Cystic nephroma with the ureter 2B. Cut section of tumour showing
gelatinous material 2.C Tumour in the ureter , mucosa is free. (Courtesy
Indian journal of pathology and microbiology)

The histopathology report of the renal mass was Cystic partially

differentiated cystic nephroma [CPDN] The swelling over the
gum was that of epulis.

120
Discussion.

Ankyloglossia superior syndrome also called glossopalatine

ankylosis is a rare condition where the tongue and palate are
connected by a fibrous band. Most often there are additional
congenital anomalies such as cleft palate, gastrointestinal
malformations, and deformed limbs.

The tongue develops in the form of two lateral lingual swellings

and one medial swelling—the tuberculum impar. The lateral
lingual swellings increase in size until they outgrow the medial
tuberculum impar and merge to form the anterior two-thirds, or
body, of the tongue. The body of the tongue is separated from
the posterior third of the tongue by a v-shaped groove—the
terminal sulcus. 1

Between the 6th and 7th weeks, the primary palate begins to
form. Between the 7th and 10th weeks, the secondary palate
forms superior to the tongue as the palatal shelves of the maxilla
fuse in the midline and the palate begins to elevate superiorly
away from the tongue. It is during this time period that synechiae
between the tongue and palate could form, potentially from local
epithelial injury at the tip of the tongue 2,3 . R. Brusati reported
the adhesion between the epithelium of the palate and the lingual
epithelium in the morphogenesis of the secondary palate in the
rat 4. It has also been suggested that ingestion of the amniotic
bands by the fetus may disrupt oral development, perhaps
causing the local epithelial injury that precedes the formation of
ankyloglossia superior. Complex craniofacial malformations,
including cleft palate, micrognathia, microglossia, and natal teeth
as well as limb anomalies have been reported.5

Ankyloglossia Superior associated with Moebius Syndrome has

been reported 6 . Moebius syndrome and ankyloglossia superior
syndrome with severe limb defects, paralysis of the abducens

121
and facial nerves, transverse agenesis of the distal segments of
the limbs, micrognathia, cleft lip, and palate have been reported,
showing that ankyloglossia superior in many cases is not an
isolated anomaly. 8

In the present case, the ankyloglossia superior was associated

with CPDN and the histological aspects have already been
published in IJPM 8 .

Conclusion.

Ankyloglossia superior is a rare disorder and may be associated

with orofacial and limb malformations. This is the first time it is
associated with Cystic partially differentiated cystic nephroma.

References.

1. Marek Dudas 1, Wai-Yee Li, Jieun Kim, Alex Yang, Vesa

Kaartinen Palatal fusion - where do the midline cells go? A
review on cleft palate, a major human birth defect Acta
Histochem . 2007;109(1):1-14.

2. Sophie Shay 1, Alisha N WestAnkyloglossia superior

syndrome: Case report and updated literature review Int J Pediatr
Otorhinolaryngol . 2016 Jul;86:1-3.

3 R.A. Wilson, M.R. Kliman, A.F. Hardyment, Ankyloglossia

superior (palato-glossal adhesion in the newborn infant),
Pediatrics 31 (1963) 1051–1054

4. R Brusati [The adhesion between the epithelium of the palate

and the lingual epithelium in the morphogenesis of the secondary
palate in the rat] Riv Ital Stomatol . 1969 Mar;24(3):251-7.

5. Takayuki Hara, DDS, PhD, Susumu TanakaAnkyloglossia

Superior Syndrome With Complex Craniofacial Anomalies:
Case Report and Literature Review cleft palate craniofacial
journal October 12, 2020
122
6. Rafaela Costa Freire 1, Ana Paula da Cunha Barbosa
Ankyloglossia Superior Associated With Moebius Syndrome: A
Case Report J Oral Maxillofac Surg. 2020 Jan;78(1):87-90.

7.Lúcia Rosa Reis de Araújo CarvalhoOromandibular Limb

Hypogenesis Syndrome: Overlap of Moebius and Ankyloglossia
Superior With Severe Limb Defects Cleft Palate Craniofac J
2021 Apr;58(4):518-524.
8. V.R.Ravi kumar, G.Rajamani. M.L.Raman . Cystic partially
differentiated nephroblastoma with ureteric extension .
Indian journal of pathology and microbiology Oct-Dec. 2010

123
Case 27. Anterior urethral diverticulum
and valves
Abstract.

Anterior urethral diverticulum and valves are rare malformations

of children. Though a few consider that both are the same with
different manifestations, the management is the same. However,
the urethra in the diverticulum lacks corpus spongiosum whereas
in valves it is still preserved. A diverticulum can be congenital or
acquired following hypospadias repair. Herein two cases of
anterior urethral diverticulum one with valve and the other
following hypospadias repair is presented .Three children with
anterior urethral valves without diverticulum are being
presented

Keywords. Anterior urethral valve, Anterior urethral

diverticulum, Hypospadias diverticulum. Laser ablation of
valves

Case 1.

A male child was seen with a history of ballooning of the under

the aspect of the glans penis and distal urethra during micturition
and post-void dribbling. Clinically there was a bulbous
enlargement of the distal urethra extending to the glans penis
during micturition which collapsed into a sac after fully
emptying the urethra. (Fig 1 A,B,C,D) There was a mild dorsal
chordee during micturition. (Fig1.E, F) A retrograde urethrogram
done showed a large diverticulum in the glandular and distal
urethra of the penis. (Fig 1G) The rest of the urethra was
normal. A diagnosis of the distal anterior urethral diverticulum
was made and the surgical correction was done. The
diverticulum was laid open. the redundant sac was excised and

124
the urethra was reconstructed over an 8F nasogastric tube. The
suture line was reinforced with corpus spongiosum splayed out
by the diverticulum and the wound closed. The chordee got
corrected after the excision of the sac and the urethral
reconstruction. (Fig 1

Fig 1.A,B,C,D clinical appearance of the anterior urethral valve. E, F dorsal

chordee, Urethrogram showing Anterior urethral diverticulum extending up to
the external meatus, H. Postoperative appearance.

Anterior urethral diverticulum (AUD)is an outpouching of the

anterior urethra through the corpus spongiosum.

Few consider anterior urethral valves and diverticula as of the

same entity, and some consider them to be two distinct entities.
An important differentiating point may be that while the
congenital anterior urethral valve is covered by corpus
spongiosum, congenital anterior urethral diverticulum protrudes
through it, and hence, it is covered only by skin. In some valves
cause proximal urethral dilatation with the formation of a sac-
like diverticulum. In some the diverticulum may be secondary to
hypospadias repair or stricture.

AUD arising from the ventral surface of the urethra near the
penile tip are rare and are more prone to calculus formation

125
Case 2.

Another male child with AUD was seen with distal urethral
diverticulum without the involvement of the glans or presence of
chordee. It was demonstrated by injecting saline through the
external meatus with a proximal tourniquet to the shaft of the
penis. (fig 2) The redundant sac was excised, the urethra
reconstructed, and additional support is given by bringing tissues
on either side of the urethra which looked like splayed out
corpus spongiosum.

Fig 2. Distal urethral diverticulum demonstrated by injection of saline into the

urethra with a proximal tourniquet.

Case 3

Hypospadias repair may be followed by the urethral diverticulum

since the repair sometimes does not have additional support to
the reconstructed urethra. The management essentially excludes
any distal stricture and reconstruction of the urethra with
additional support from the surrounding tissues. Fig 3.

126
Fig.3. Post hypospadias repair diverticulum at the bulbar level of the urethra.

Case 4.

A one-year-old male child was seen with a history of thin urinary

stream and post-void dribbling. There was a bulge in the
penoscrotal aspect of the penis extending halfway in the shaft
during micturition. Fig 5.

Fig 5. Post void bulge in the proximal portion of penile urethra .

An MCUG showed dilated proximal urethra with abrupt

narrowing distally. with elongated prostatic urethra and bilateral
para ureteric diverticulum

127
Fig.6 : Dilated proximal urethra with distal narrowing due to anterior urethral
valve.

Cystoscopy revealed a concentric narrowing at the mid penile

region. By a penile incision extending onto the scrotal region, the
grossly dilated proximal urethra and the stenotic area were
exposed and opened fully. The stenotic area resected and the
proximal dilated portion opened out fully and reconstructed to
the normal calibre.

Case 5.

Similar to case 4 a new born child with poor urinary stream had
MCUG done and showed dilatation of prostato- membranous
urethra and proximal one third of penile urethra . The distal
urethra was narrow. There was grade V reflux on the right side

There were technical problems in cystoscopic valve excision.

The dilated urethra was laid open including the valvular area and
sutured to skin edges . The urine was drained from the perineal
urethral site. At one year the urethra was reconstructed and the

128
urinary stream was normal. Surprisingly at 18 months a repeat
MCUG showed that the reflux has disappeared. (Fig 8)

Fig 7. AUV at the midpenile level with proximal dilatation of uretha with Gr.V
reflux on the right side.

Fig 8.A. Urethra laid open except the distal third. B,C,D. Urethral
reconstruction. E. Reflux has disappeared with normal bladder capacity.

Case 6.

A one year old boy was referred for thin non projectile urinary
stream with ultrasound report of dilated prostatic urethra. An
MCUG was done which showed dilated prostatic and bulbar
urethra and the distal urinary stream was thin. (Fig 9)

129
Fig. 9. MCUG showing normal bladder, dilated prostatic urethra and dilated
proximal anterior urethra.

A cystoscope showed anterior urethral valve with normal

posterior urethra. (Fig 10)

Fig 10. Cystoscopy showing the classical anterior urethral valve

The anterior urethral valve was fulgurated with laser. (Fig 11)
Post operatively the urinary stream was normal.

130
 Fig 11. The anterior urethral valve being fulgurated with laser.

Discussion

Two cases of anterior urethral diverticulum and three cases of

anterior urethral valve and a post hypospadias diverticulum of
the bulbar urethra have been presented. Some authors consider
anterior urethral valves and diverticula as of the same entity, and
some consider them to be two distinct entities.1 It has been
suggested that valves cause proximal urethral dilatation with the
formation of a sac-like diverticulum. On the other hand, some
believe that the distal lip of a diverticulum rises and acts like a
valve when the diverticulum is distended with urine2. An
important differentiating point may be that while the congenital
anterior urethral valve is covered by corpus spongiosum,
congenital anterior urethral diverticulum protrudes through it,
and hence, it is covered only by the skin

Symptomatically they are identical with the poor urinary stream,

dribbling of urine and recurrent urinary infections, and
occasionally calculus formation in the diverticular sag especially
the distal sacs. Like posterior urethral valves, they cause upper
tract damage with bladder thickening, bladder diverticular
formation and vesicoureteric reflux. Left untreated for a long
time they can produce renal damage. Case 4 showed evidence of
bladder irregularity and bilateral para ureteric diverticulum and
131
case 5 showed grade V reflux on one side. Case six showed
along with the anterior urethral valve there was dilatation of the
posterior urethra. Cystoscopy did not reveal any valves.
However, the association of anterior urethral valve and posterior
urethral valves in the same patient has been reported.3

There are various embryologic theories of anterior urethral

diverticulum formation such as: (a) developmental defect
resulting in the weakness of corpus spongiosum2 (b) an
incomplete hypospadias (c) cystic dilatation of urethral glands;
(d) sequestration of an epithelial rest and (e) congenital anterior
urethral valve and congenital anterior urethral diverticulum
arising from the anterior lip of ruptured syringocele of Cowper's
duct2 .Diagnosis is usually made by ultrasonogram, MCUG, and
cystoscopy. Ultrasosonogram will be helpful in identifying
damage to the upper tract and MCUG is confirmatory of the
diverticulum, bladder configuration, and reflux if any.

Management options of the lesion can be an endoscopic or open

method. Endoscopic valve resection is the treatment of choice
for the valves alone. In the case number 6 case, Laser ablation
of the valve was done . Sometimes in smaller diverticula, the
anterior lip if excised will allow free flow of urine and
spontaneous regression of the diverticulum. However, in larger
diverticula open excision of the diverticulum with the
reconstruction of urethra providing adequate support to prevent
reformation is necessary. In a few, it is done in two stages

Conclusion

Anterior urethral valve and diverticulum are rare lesions. failure

to recognize them and treat them may result in upper tract
damage as in other obstructive uropathies like the posterior
urethral valve.

132
References

1.Jana M, Gupta AK, Prasad KR, Goel S, Tambade VD, Sinha

U. Pictorial essay: Congenital anomalies of male urethra in
children. Indian J Radiol Imaging

2.Levin TL, Han B, Little BP. Congenital anomalies of the male

urethra. Pediatr Radiol. 2007;37:851–62.

3.KLN Rao, B Eradi, P Menon Anterior and posterior urethral

valves: a rare association. Journal of Pediatric Surgery Volume
38, Issue 7, July 2003, Pages E23-E24

133
Case 28. Female epispadias: Single stage
correction of urethra with continence
procedure
Abstract.

A rare case of female epispadias surgically corrected with

reconstruction of urethra with urethro- vesical suspension and
cosmetic correction of external genitalia is described.

Keywords.

Female epispadias, Incontinence of urine, Bladder neck

suspension, Vesico urethral suspension

Case Report

A five-year-old girl child was brought to the hospital for

incontinence of urine. Clinically she had wide open urethra
dorsally with smooth mucosal lined skin extending on to the
mons pubis. The clitoris, labia majora and minora were widely
separated. Urethral cleft extended up to the neck of the bladder
but the bladder was intact. Fig 1.

Fig 1. Classical picture of female epispadias; Xray pelvis normal symphysis

134
The child was operated upon. The skin incision was made on the
inner aspect of the clitoris and continued inferiorly over the
urethrovaginal septum and superiorly over the mucosal lined
skin. This is raised as a flap based on the urethral meatus (Fig
2.A,B). and then tubularsied to reconstruct the distal urethra so
that the meatus drops to more anatomic posterior location.

A 2 ‘O’ Prolene is stitched on either side of the bladder neck.

(Fig 2C) the sutures were brought beneath the pubic rami to the
anterior rectus sheath, where they were tied together creating
angle in the vesico urethral junction (Fig 2D).

Re-approximation in the midline of the clitoral halves and the

upper ends of the labia to form a fourchette that camouflages the
anterior displaced vaginal introitus. (Fig 2 E) At the end of
seven days the urethral catheter was removed. The child was
passing urine normally and she was continent.

Fig.2. The steps of surgery as explained in the text above.

Follow up after six months showed that the clitoris, labia minora
and majora have normalised and the meatus was in normal
position and the child was continent. Fig 3.

135
 Fig 3. Normalised external genitalia.

Discussion

Female epispadias is a rare congenital abnormality of the lower

urogenital tract. It may vary from slightly patulous urethra to
wide open urethra extending to the bladder base. It is classified
into three degrees. In the least degree of epispadias, the urethral
orifice simply appears patulous. In intermediate epispadias, the
urethra is dorsally split along most of the urethra. In the most
severe degree of epispadias, the urethral cleft involves the entire
length of the urethra and sphincteric mechanism and the patient
is rendered incontinent presents with urinary incontinence The
incontinence may be stress related or continuous dribbling.

The repair involves creating a normal urethra with good

continence and aesthetically acceptable external appearance.
Preserving urinary continence is achieved by a number of
different techniques. Fascial, muscular and artificial slings have
been used for support of the bladder neck after reconstruction. .
Reconstruction of the urethra without adequate circumferential
muscular support is a significant problem in bladder neck
surgery for urinary incontinence. In this child the vesico urethral
junction was suspended ventrally by two prolene stitches taken
from the angles of bladder neck passed beneath the symphysis
and brought to the rectus sheath and tied together with Foley
catheter in the urethra. The child was continent with near normal
appearance of external genitalia.
136
Conclusion

A rare single case of female epispadias surgically corrected

with ventral suspension of bladder neck is described. The
child is continent with normal external appearance.
Recommended reading

Gearhart JP, Mathews R. Exstrophy-Epispadias Complex. In:

Wein AJ, editor. Campbell-Walsh Urology. 9 th ed.
Philadelphia: Saunders; 2007. p. 3547-50.

137
Case 29. Forme fruste choledochal cyst
with stent induced duodenal perforation
Abstract.

A girl child with abdominal symptoms on ultrasound showed

minimal dilatation of the common bile duct. Child underwent
endoscopic retrograde cholangio pancreatogram (ERCP) and
stenting. The stent produced duodenal perforation which was
closed and subsequently underwent resection of the dilated
common bile duct with hepatico jejunostomy and made
uneventful recovery.

Keywords.

Forme frustae choledochal cyst, ERCP, Stenting , duodenal

perforation, Pancreato- biliary malfunction

Case report

A three year girl child was seen with recurrent abdominal pain.
Ultrasonogram showed minimal dilatation of common bile duct
(CBD) which measured 8 mm in diameter. An ERCP was done
which showed minimal dilatation of the common bile duct and
the pancreatic duct which was normal .There was no stenosis at
pancreto biliary junction which ended in a common channel
before draining into the duodenum (FIG 1)

138
 Fig 1. MRCP showing minimal dilatation of common bile duct

Since the dilatation was minimal it was decided to do stenting of

the common bile duct to allow for spontaneous resolution of the
dilated duct by the gastroenterologist who did the ERCP.Fig.2

Fig 2. Stenting the common bile duct by ERCP and the stent in position

139
Initially the child was asymptomatic but after 4 weeks the child
came with severe abdominal pain. A plain Xray of abdomen
showed gas under the diaphragm suggestive of perforation of
bowel. Laparotomy revealed perforation of second portion of the
duodenum by the stent which was stiff. The stent was removed
and the perforation closed . (Fig 3)

Fig 3. Perforation of second portion of the duodenum by the stent.

3 months later the child had hepatico jejunostomy after resection

of the Forme- frustae choledochal cyst.

Subsequently two other children were seen one with minimal

dilatation of CBD with right and left hepatic ducts (Fig 4 A) and
the other with moderated dilatation of the CBD with left hepatic
ducts (Fig 4 B) clearly delineated by MRCP. Both underwent.
resection of the dilated CBD and hepatico jejunostomy.

140
 MRCP 4A. Minimal dilatation of CBD with intra hepatic dilatation. Fig 4B.
Moderate dilatation of CBD with intra hepatic dilatation

Discussion

Three children with minimal dilatation of the common bile duct

with vague abdominal symptoms on ultrasound showed
dilatation of the common bile duct. in MRCP. The dilatations
were minimal in two cases and in one it was moderately dilated.
All were symptomatic with recurrent abdominal pain. Though
ultra sound shows the features of bile ducts, the pancreato biliary
junction and malformations (PBMU) are delineated well in
MRCP or ERCP. Apart from vague abdominal symptoms the
reflux of pancreatic and bile fluid due to PBMU results in
recurrent acute pancreatitis. Neglected, in adulthood it may
induce biliary carcinogenesis. ERCP can accurately delineate the
minimal CBD dilatation, associated pancreaticobiliary tract
abnormalities and PBM of Forme fruste choledochal cyst.
(FFCC) ERCP can improve the perioperative and post-operative
results of paediatric patients with FFCC1 .

Forme fruste choledochal cyst is a choledochal cyst that has

minimal or no dilatation of the extrahepatic bile duct (EHBD)
and is associated with pancreaticobiliary malunion (PBMU).
Thus, total resection of the extrahepatic bile duct and
hepaticojejunostomy are recommended in children diagnosed
with PBM with choledochal cyst. Early diagnosis and early
surgical treatment provide a good prognosis with few
complications. In addition, successive follow-up is necessary for
early detection of biliary tract malignancy, especially in patients
demonstrating postoperative complications. In all the three cases
the common bile duct was resected and biliary reconstruction
was carried out by choledochojejunostomy (Roux-en-Y).
Cholecystectomy alone tried in some cases failed to give relief 2.
In case number one the ERCP was combined with biliary
141
stenting. The stent was stiff and resulted in perforation. Stenting
for Choledochal cyst as a therapeutic procedure should not be
done. It has been done in cases of ruptured choledochal cyst as
temporising procedure 3 and in very large giant choledochal cyst
to reduce the size for definitive surgery 4 .

Conclusion.

Symptomatic minimal dilatation of the common bile duct with

pancreato biliary malunion should be treated as choledochal cyst
with excision of the cyst and hepaticojejunostomy. Stenting
carries the risk of perforation of bowel though it has been used as
a temporising procedure before a definitive surgery.

References

1. Qianqian Wang 1 2, Suk Bae Moon 3, Jingyu Zang 1, Jun Liu 2,

Hao Weng 4, Xuefeng Wang 4, Jun Wang 1, Jie ChenUsefulness
of pre-operative endoscopic retrograde
cholangiopancreatography in diagnosis and management of
forme fruste choledochal cyst in children. ANZ J Surg . 2020
Jun;90(6):1041-1045.

2 Go Miyano 1, Atsuyuki Yamataka, Akihiro Shimotakahara,

Hiroyuki Kobayashi, Geoffrey J Lane, Takeshi Miyano
Cholecystectomy alone is inadequate for treating forme fruste
choledochal cyst: evidence from a rare but important case report
Pediatr Surg Int 2005 Jan;21(1):61-3.

3.Hiroyuki KikunagaEndoscopic biliary drainage as a bridging

procedure to single-stage surgery for perforated choledochal
cyst: a case report and review of the literature Surgical Case
ReportsPublished: 17 November 2015

4.Couri, Thomas MD1; Mak, Grace MD1Novel Endoscopic and

Surgical Management of a Giant Type Ic Choledochal Cyst

142
American Journal of Gastroenterology: October 2017 - Volume
112 - Issue - p S1303

143
Case 30. Morgagni hernia masquerading
as cardiac lesions in children
Abstract.

Two children who were initially treated as cardiac lesions,

Morgagni hernia was incidentally picked up by the presence of
gas shadow in the pericardium. They were surgically corrected.

Keywords. Morgagni hernia, congenital diaphragmatic hernia,

paroxysmal atrial tachycardia, gas in the pericardium

Morgagni Hernia is a rare form of diaphragmatic hernia where

the defect is situated beneath the sternum. It is characterized by
herniation through the foramina of Morgagni which are located
immediately adjacent and posterior to the xiphoid process of the
sternum

These hernias, occurring in the anterior midline through the

sternocostal hiatus of the diaphragm, are usually discovered
incidentally in children or when the patient has reached
adulthood, or when they become symptomatic due to intestinal
involvement (occlusive symptoms) or when respiratory
symptoms occurs.

We present here two children whose presentation was different

from the usual presentations.

Case 1.

A three-year-old child presented with mild respiratory distress on

exertion. A chest X-ray was taken initially showed that the heart
was enlarged and a diagnosis of cardiomyopathy was made.
However, the child’s ECG and other investigations on the heart
functions were normal.

144
A careful examination of the chest X- Showed it had gas
shadows in the pericardium. A provisional diagnosis of
Morgagni hernia was made. A barium enema showed that the
transverse colon has herniated into the thorax through the
retrosternal diaphragmatic defect. (Fig1). The barium enema
was chosen because it is the colon that herniates most often in
Morgagni hernia.

Fig 1. Chest Xray showing gas shadows in the pericardium and

barium enema showing the colon in the pericardial sac.

The child was operated upon. The defect was retrosternal with a
sac. The sac was excised and the diaphragmatic defect closed.
The child made a complete recovery.

Case 2.

A two-year-old girl child was seen by a paediatrician and a

diagnosis of paroxysmal atrial tachycardia was made. A routine
chest X.Ray showed gas in the pericardium. A barium enema
showed that the colon was in the retrosternal space. (Fig 2).A
diagnosis of retrosternal hernia was made and operated upon. It
was Morgagni Hernia with a sac. The sac was excised and the
diaphragm defect was closed. The child made an uneventful
recovery.

145
 Fig 2 . Gas shadows in the pericardium and retrosternal colon with barium
enema.

Discussion

Hernia of Morgagni is the rarest of the four types of congenital

diaphragmatic hernia (2%–3% of all cases).

Hernia of Morgagni was first described by Giovanni Battista

Morgagni, an Italian anatomist, and pathologist in 1769 while
performing a postmortem examination on a patient who died of a
head injury. Hernia of Morgagni is located just posterolateral to
the sternum. It has also been called retrosternal, parasternal,
substernal, and subcostosternal. It is caused by a congenital
defect in the fusion of septum transverses of the diaphragm and
the costal arches. This weakness in the diaphragm later would be
stretched by the rapid rise in intraperitoneal pressure, giving rise
to a hernia.

It can occur on either side of the sternum through a muscle-free

triangular space called the Larrey space, although it is more
common on the right. In rare cases, the hernia can be bilateral.

Hernias of Morgagni are diagnosed late because patients can be

asymptomatic or present with non-specific respiratory and
gastrointestinal symptoms and signs. Down’s syndrome is
associated with Morgagni hernia.
146
In the cases discussed above the Morgagni hernia has
masqueraded as cardiomyopathy in the first case and paroxysmal
tachycardia in the second place. It is very rare to present with
cardiac symptoms since mostly they are respiratory and
gastrointestinal

Morgagni hernia is also seen in golden lion tamarin monkey (Fig

3)

Fig 3. Golden lion tamarin monkey showing retrosternal Morgagni hernia

Two more children were incidentally identified with Morgagni

hernia when investigating the child for abdominal pain by Ultra
sonogram. and barium enema. Fig 4.

Fig 4. Barium enema in two children showing the retrosternal

colon.

147
Both of them were operated by open method. (Fig 5)

Fig 5. Morgagni hernia showing colon entering the sac , the diaphragmatic
defect and the closure

Management

Morgagni's hernia needs surgical correction. It can be done either

open method or by laparoscopy. Recently Robotic method of
correction has been advised.

The transthoracic approach has been used if the bowel is

incarcerated with the anomalous left lobe of the liver.

The essential principles are reduction of contents of the hernia,

removal of the sac, and closure of the defect. In many, the need
for prosthetic mesh is not there. However, if the hernial opening
is large they may need a prosthetic mesh. The prognosis is
excellent and recurrence is rare

148
Case 31. Congenital and acquired H type
of recto vestibular fistula in children
Abstract.

Seven children with H type of recto vestibular fistula were seen.

Three were congenital and lined by squamous epithelium and the
other four were inflammatory in origin. Two were removed by
anterior perineal approach and five of them underwent excision
of the fistulous tract and the resulting defect was repaired.
without a perineal incision. In this procedure the fistulus tract is
excised , the muscular defect is closed , the posterior vaginal
wall was mobilized and sutured to cover the vestibular aspect of
the fistula and the anterior rectal was mobilized and sutured to
cover the rectal aspect of the fistula. There had been no
recurrence

Keywords

Congenital H type of recto vestibular fistula, Acquired

rectovaginal fistula, vaginal mucosal advancement, colonic
mucosal advancement.

Case report.

Seven children with recto vestibular fistula were seen. In three

children the fistulous tract was present in the neonatal period
which is rare. (Fig 1 A,B,C) In two it would admit a 5 F feeding
tube and in one 22 sized intracath. The opening was in the
vestibule and in the anus it opened 1 Cm above the anal verge,
Fig 1B, These congenital fistulous tracts are unlikely to get
closed spontaneously since they are epithelial-lined and need
surgery

149
 Fig 1. Congenital rectovestibular fistula in the neonatal period.

The other four were late presentations. Out of the four one was
in the labia and others were in the vestibule. None in the vagina.
The fistulous tract was similar to the congenital type (Fig 1 A,
B, C)

These children were born with normal anal tracts. One child was
chronically constipated. All developed inflammatory swelling in
the perineal region with abscess formation resulting in an
acquired fistulous tract.

Fig 3 A. Post infective H type of recto vestibular fistula. B. Fistula in the

constipated child. C. Edema of the perineal skin with H type of fistula.

All post-infective H type of RV fistula were given antibiotics

and observed for three months for spontaneous closure. Of the
four one closed spontaneously and the other three need surgical
excision and reconstruction,

150
Management.

All children who were operated on went through a nonresidue

diet for two days and bowel preparation was done with
polyethylene glycol with added electrolyte for two days before
the operation. A normal saline bowel washes in the previous
evening and in the morning of the operation is given. Surgery
was done without colostomy.

In the first two cases, the tract was dissected and completely
removed after a catheter or instrument was passed for
identification. (Fig 2) The resultant defect was sutured with the
reconstruction of the perineal body. The posterior vaginal wall is
mobilized and brought forward to cover the fistulous area
anteriorly. Similarly, the anal mucosa above the fistulous site
was dissected and brought forward to cover the posterior aspect
of the fistulous tract. The child gets clear fluids for three days
and is subsequently started on normal breastfeeds. There had
been no recurrence but there was a perineal scar.

Fig 2. The fistulous tract being dissected and removed by anterior perineal
approach.

In subsequent four cases the fistulous tract is cored out from

vestibular and anal side and removed completely Fig 4 C&D

151
 Fig. 3. A&B showing the fistula. C. the fistula being cored out from the
vestibule and anal site. D. Fistulous tract being removed completely.

The resultant muscle defects are sutured from both sides. The
anal mucosa above the fistula is mobilized and sutured to the
anal skin. The posterior vaginal wall is also mobilized in a
similar fashion and sutured to fourchette skin covering the
fistulous site. The perineal body is undisturbed and there was no
scar in the perineum, All the children did well without
recurrence though the series is very small.

Discussion.

Seven children had H type of recto vestibular fistula, and three

were congenital (Fig 1) and the rest were acquired. All of them
opened into the vestibule except one which opened in the left
labia. Subir Chatterjee labeled it as double termination of

152
alimentary tract1,2 and A. Wakhlu labeled it as perineal canal 4 .
A large series from India has been reported form, Subir
Chatterjee,1,2,3 Kuntal Bowmik3 and A . Wakhlu 4.

Different approaches by different individuals with varying

degrees of result have been published, A Wakhlu 4 and
Kulshrestha 5 did Anterior sagittal anorecto vaginoplasty where
the whole tract is laid open excised, and reconstructed which we
also did in the two cases. Taiwo A, Alberto Pena 6 excised the
fistula by a circumferential incision which is made around the
fistula in the vestibule; the fistula tract is dissected liberally and
delivered by invagination into the bowel. Then, the fistula tract is
excised adequately and closed from within the bowel lumen so
that no anterior outpouching of the rectum remains. The perineal
body is repaired through the vestibular incision. In no cases,
protective colostomy was performed. Almost a similar technique
has been done by us in five cases and the only difference being
the tract is completely excised from the anal region and the
muscles repaired and covered by anterior rectal wall inferiorly
and posterior vaginal wall superiorly.

A large series of 182 cases have been reported from China by Le

Li 1, Ting-Chong Zhang 7. In their series 134 out of 182 were of
inflammatory origin. Vestibular-rectal pull-through procedure
was performed in 98 cases. transanal procedure in 69 cases, and
anterior perineal anorectoplasty in 15 cases. None had a
diverting colostomy. Fistula occurred in 21 cases (11.54%).
Eight of them healed spontaneously, whereas the other 13
patients required reoperation.

Conclusion.

Out of the 7 cases, three were congenital and four were acquired.
one healed spontaneously. Other 6 needed surgery, two were by
anterior perineal approach and four by complete excision of the

153
fistulous tract, repair of musculature, and covering of the
fistulous tract by a posterior vaginal wall and anterior rectal
mucosa. They were done without colostomy and the results are
cosmetically acceptable without perineal and anal incisions. In
this small series there had been no recurrence .

References.

1.Chatterjee SK, Talukder BC. Double termination of the

alimentary tract in female infants. J Pediatr Surg. 1969;4:237–
43. [PubMed] [Google Scholar]

2. Chatterjee SK. Double termination of the alimentary tract: A

second look. J Pediatr Surg. 1980;15:623–7. [PubMed] [Google
Scholar]

3,Kuntal Bhaumik, Sachchidananda Das, and Subir K. Chatterjee

Vestibulo-Rectal Pull Through in H-Fistula in Girls. 2018 Oct-
Dec; 23(4): 182–185. J Indian Assoc Pediatr Surg.

4.Wakhlu A, Pandey A, Prasad A, Kureel SN, Tandon RK,

Wakhlu AK, et al. Perineal canal. Pediatr Surg Int. 1997;12:283–
5. [PubMed] [Google Scholar

5.Kulshrestha S, Kulshrestha M, Prakash G, Gangopadhyay AN,

Sarkar B. Management of congenital and acquired H-type
anorectal fistulae in girls by anterior sagittal
anorectovaginoplasty. J Pediatr Surg. 1998;33:1224–8.
[PubMed] [Google Scholar]

6.Taiwo A Lawal 1, Kaveer Chatoorgoon, Andrea Bischoff,

Alberto Peña, Marc A Levitt Management of H-type
rectovestibular and rectovaginal fistulas. 2011 Jun;46(6):1226-
30. J Pediatr Surg.

7.Li L, Zhang TC, Zhou CB, Pang WB, Chen YJ, Zhang JZ, et
al. Rectovestibular fistula with normal anus: A simple resection

154
or an extensive perineal dissection? J Pediatr Surg 2010;45:519-
24.

155
 2. Images
1. Congenital anomalies of nose with
associated malformations.
The common nasal deformity that is seen in practice is
associated with complete cleft lip and palate where there is a
collapse of alar cartilage with defect in the nasal floor. Isolated
congenital anomalies of the nose are rare and encompass a
diverse group of conditions. It may be cleft nose. agenesis
(arhinia), hemi nasal hypoplasia and may be associated with
dacryocystocele, nasal dermoid, gliomas, haemangiomas,
encephaloceles, proboscis lateralis, nasopharyngeal teratoma,
and epignathus.

Congenital nasal deformities were classified into the following 4

categories:

Type I - Hypoplasia and atrophy (represents paucity, atrophy, or

underdevelopments of skin, subcutaneous tissue, muscle,
cartilage, and/or bone)

Type II - Hyperplasia and duplications (represents anomalies of

excess tissue, ranging from duplications of parts to complete
multiples)

Type III - Clefts (The comprehensive and widely used Tessier

classification of craniofacial clefts is applied)

Type IV - Neoplasms and vascular anomalies (Both benign and

malignant neoplasms are found in this category)

156
Herein eight cases of nasal deformity are presented. Two
children had complete hemi nasal aplasia and one with partial
nasal hypoplasia with associated malformations. Three children
had cleft nose with associated malformations. In the last two
cases one child had partial duplication of face with proboscis and
another had Fraser syndrome with cryptophthalmos and
associated malformations.

Case 1.

Left Partial arhinia, cryptophthalmos ,coloboma–

symblepharon and left facial palsy.

A new born child was seen with aplasia of the left half of the
nose. The child was able to breath normally through the right
nostril. The child had facial palsy on the left side with
deformities of the left upper eye lid . The upper eye lid showed
partial deficiency with outer synechiae. The cornea was exposed.
The eye ball and cornea were small. There was a small nodule of
cartilage near the columella of the nose.

Fig 1. Aplasia of the left side of the nose with left facial palsy and a coloboma
of the left eyelid.

157
Heminasal aplasia or hemi-arhinia or unilateral aplasia of the
nose is the absence of one half of the external nose together with
a variable degree of abnormality in the internal anatomy of the
nose as well as the adjacent facial structures. Hemiarhinia is a
rare congenital malformation of unknown aetiology. Associated
anomalies include the absence of ipsilateral paranasal sinuses
and ipsilateral facial malformations. The opposite half of the
nose is normal and do not have any functional deficit.

In this child there was coloboma of eyelid exposing the cornea.

There is synechiae of the lateral third of the eye lids with facial
palsy. The combination of the above features is an unusual one.

Management . The coloboma of the upper eyelid needs

corrective surgery to prevent injury to the cornea. Till such time
the eyes have to be protected. The cosmetic correction of the
hemi nasal aplasia can be done before the child goes to school. A
few wait till the child is 15 years when facial development is
complete. Nasal airway reconstruction might not be required in
congenital hemi-nose, because these patients usually do not have
problems in breathing when they have the contralateral nasal
airway intact.

Case 2.

Heminasal Aplasia with Dacryocystocele on the right side.

A one month old child was brought with complete absence of

right half of the nose with swelling in the medial aspect of the
right eye. It was a cystic swelling in the medial aspect of the
right eye pushing the inner canthus forwards. Clinically it was
dacryocystocele due to obstruction of the nasolacrimal duct due
to aplasia of the right half of the nose. The child was otherwise
asymptomatic.( Fig 2 )

158
 Fig 2. Aplasia right nostril with Dacryocystocele on the right side.

This child with Aplasia of right nostril has dacryocystocele due

to absence of drainage through the right nasolacrimal duct which
is absent along with the right half of the nose. The child
underwent excision of the lachrymal cyst . The cosmetic
reconstruction of the right hemi hypoplasia of the nose will be
done before the child goes to school.

Case 3.

Right nasal hypoplasia with dacryocystocele

A three year old boy was seen with slowly increasing swelling
in the inner canthus of the right eye with epiphora and
abnormality of the right half of the nose. The right half of the
nose was ill developed with a hypoplastic nostril. The cyst on the
medial side of the right eye was fairly large and the boy had
epiphora. Clinically it was dacryocystocele due to obstruction in
the right nostril due to hypoplasia of the right half of the nose.
The dacryocystocele was excised and reconstruction of nose
deferred to a later age.

159
 Fig 3. Right dacryocystocele with hypoplasia of the right half of the nose.

Case 4.

Cleft nose with hamartomatous lesion on the left side

A one year old child was seen with cleft nostril on the left side
with progressively increasing swelling just above the cleft.
Clinically it was a firm swelling on the left side of the nose
extending on to the face and the midline of the nose. The mass
was removed and histologically it was a hamartoma. The cleft
nose was not operated and was advised to have plastic
reconstruction of nose at five years of age.

Fig 4. Cleft nose with hamartomatous lesion on the left side

160
The cleft nose involves a defect in the ala of the nose involving
skin, cartilage and mucosa. Embryologically it is failure of
fusion of medial nasal process to the lateral nasal process. The
association of hamartoma in the cleft side is very unusual

Case 5.

Cleft Nose with haemangioma root of the nose.

A two year old child was seen with cleft nostril on the left side
with ulcer on the root of the nose on the left side. The cleft on
the left nostril was deep and extending up in the nose. The ulcer
on the root of the nose was a haemangioma resolving with
ulceration, The child was prescribed topical antibacterial
ointment and was advised to come at five years by which time
the nasal cartilage growth would allow proper reconstruction. .

Fig. 5, A deep nasal cleft in the ala of the nose on the left side with ulcerated
haemangioma in the root of the nose.

Case 6.

Bilateral severe nasal deformity with frontonasal meningocele.

(Frontonasal dysplasia)

A six months old child was brought with severe nasal deformity
with a fronto nasal swelling and hypertelorism . The nose was

161
grossly distorted with the large nostrils due to defective
development of alar cartilage . The columella was wide . The
whole nose was completely replaced by a soft compressible
swelling extending on to the frontal bone in the midline. It
increased on crying. Clinically the child had frontonasal
meningocele with gross deformity of the nose,. The need for
staged repairs of the anomaly was explained but the parents did
not bring the child for follow up and surgery. Fig 6

Fig.6 Severe nasal deformity with frontonasal meningocele and hypertelorism .

Case 7.

A child with partial duplication of face (cranio facial

duplication. diprosopus) with proboscis .

This is the clinical picture of the child brought in infancy in 1975

with partial duplication of the face . The left half of the face was
near normal with normal nose mouth and eyes. The right half
was malformed . At the place where the normal nose should be
there was proboscis , a mucocutaneous tubular structure. There
was a hump of cartilaginous structure medial to proboscis. the
right eye was far laterally placed and the right half of the mouth
was merged with left half with a broad tongue. the breadth of the

162
forehead was also large. Had a short neck with low hairline, MRI
and CT scan were not available at that time.

The child was active and was on normal feeds. Initially the
proboscis was excised along with the cartilaginous hump.
Further management of correction of the wide mouth and
hypertelorism was planned but lost for follow up. (Fig 7)

Case 7. Partial duplication of face with Proboscis on the right side..

Case 8

Cryptophthalmos right side of the face with partial nasal

agenesis with midline cleft lip with complete left palate.
Fraser syndrome.

A new born was seen with congenital anomaly of the face . The
right eye ball was completely covered with skin. At the place
where the normal eye should be there was a skin nodule. A thin
eye brow was present on the outer aspect of the absent eye. The
nose was depressed and the right half of the nose was replaced
by a cartilaginous mass extending from forehead to the outer
aspect of the right side of the lip. There was a central cleft lip
with wide cleft palate. The right ear showed multiple pre
auricular skin nodules. There was frontal bossing and the left eye

163
showed squint to the left. There were no other anomalies. The
need for staged repair of the lip nose and other anomalies were
explained to the parents did not report for follow up. Fig 8

Fig.8 : Cryptophthalmos right side of the face with partial nasal agenesis with
midline cleft lip with complete left palate

Conclusion

Isolated nasal deformity without cleft lip and palate are rare.
They may be associated with various anomalies along with the
nasal defects or it may be a part of major facial anomaly like the
partial duplication of face and Fraser syndrome. This is only a
pictorial depiction of various anomalies. The surgical
management is challenging in reconstruction of aplasia of the
nose, and also other anomalies out lined above . Readers are
requested to seek appropriate literary sources for guidelines
regarding surgical management.

164
 2. Exstrophy variants with long term
follow-up of a girl with covered
exstrophy
Case 1.

A newborn child was brought with what looked like classical

bladder exstrophy except the glans penis was intact and the child
was passing urine normally. The exposed bladder-like structure
did not have a ureteral orifice and the whole length of urethra
except the glans appeared to have been laid open Fig 1.A, B

.
Fig.1 A&B Duplicate exstrophy (Courtesy JIAPS)

The child was continent and had a normal bladder inside. The
symphysis pubis was intact. This is classical duplicate exstrophy.
The child underwent excision of the exposed duplicate exstrophy
including the area on the dorsal aspect of the penis. The child
made a good recovery. Histologically the mucosa was that of
transitional epithelium.

Variants of bladder exstrophy fall into four groups. Pseudo

exstrophy where the pelvic bones are separated as in exstrophy
but the bladder and urethra are normal. Superior vesical fissure
where the bladder opens with a small opening like vesicostomy

165
just beneath the umbilicus. The pubic bones are separated.
Duplicate exstrophy where the bladder is intact and the bones are
normal but there is exposed bladder mucosa like classical
exstrophy. The last one is covered exstrophy where there is
sequestrated bowel loop in the suprapubic area with widened
pubic bones.

Marshall and Muecke defined the true bladder duplicate

exstrophy as a suprapubic exstrophic mucosal plate with
subjacent normal or near-normal bladder with a relatively normal
phallus. Epispadias is absent and exstrophic plate does not
receive ureters. 1

The management is simple in that the exposed duplicate bladder

mucosa has to be removed with the closure of the abdominal
wall defect and it carries a good prognosis

Case 2.

A girl child was brought with a bowel loop hanging from the
suprapubic region. There was a bulge in the suprapubic region
and the umbilicus was absent. The clitoris was widely separated
with two vaginal orifices and she was passing urine through two
urethral orifices. Fig 2 (A &B). The flow from the right urethral
orifice good and left was narrow. Ultrasonogram showed two
bladders and two uteri.

166
 2 A. Sequestrated bowel loop in suprapubic area with a bulge above that.
Umbilicus is absent. Fig 2B Post surgical picture shows double vagina, urethra
and widely separated clitoris.

In the first stage of surgery the sequestrated bowel loop was

removed which histologically was that of small bowel.

At one year of age the vaginal septum between the two vaginas
was removed to make it into a single one. The right urethral
orifice was normal but the left one was stenosed. Abdomen was
opened and two hemi bladders were anastomosed to make it one
and the urethral orifice of the left bladder was closed from with
in so that the child passes urine through the normal right orifice.

At 28 year she got married. At third month of pregnancy she

developed massive vaginal prolapse and was seen by
obstetrician. She was pregnant though her right hemi uterus. The
prolapse of vagina was corrected. She attained full term and
delivered a chid through caesarean section.

Covered exstrophy which is a variant of exstrophy of bladder

where the bladder is normal and there is a sequestrated bowel
loop. Since there is divarication of pubic bones the clitoris is
widely separated. The child above also had duplication of
bladder urethra, uterus and vagina. Similar association has been
reported. 2 In this child the double vagina was made into one and
the double bladder was also made into one chamber. Technically
it was not possible to join two uterine segments together and
hence left as such. She became pregnant in one uterine segment .
During pregnancy due to laxity of supportive tissue and wide
separation of symphysis pubis massive prolapse of the vagina
developed which was attended to by the obstetrician. She
delivered a normal child by caesarean section.

This is one of the very rare cases of covered exstrophy with long
term follow up.

167
References

1.Marshall VF, Muecke EC. Variations in exstrophy of the

bladder. J Urol. 1962; 88:766-96.

2.Sarode S, Mhaske S, Wagaskar VG, Patil B, Patwardhan SK,

Gopalakrishnan Surgical repair in case of covered exstrophy of
bladder with complete duplication of lower genitourinary tract
and visceral sequestration.G.Int Braz J Urol. 2018 May-
Jun;44(3):647-648.

168
3. Identical congenital lesions in twins.
Identical lesions in monozygotic and heterozygotic twins are
extremely rare and we present here 6 sets of twins with identical
lesions.

Case 1. Congenital adrenal hyperplasia in twin girls.

Simple virilising CAH due to 21 hydroxylase deficiency in identical twins

Identical girl twins were brought for hyperpigmentation of

external genitalia and clitoromegaly. A clinical diagnosis of
virilising congenital adrenal hyperplasia was done . It was
confirmed by karyotype, ultrasonogram of abdomen and ACTH
stimulation test which showed 21 hydroxylase deficiency in both
the twins. Simple virilising Congenital adrenal hyperplasia
(CAH) in monozygotic twins is extremely rare. . Two cases of
the simple virilising form of CAH have been reported. Most of
these cases are of classic salt-wasting CAH due to 21-
hydroxylase enzyme deficiency. The twins were treated with
glucocorticoids and mineralocorticoids and made progress.

Case 2: 3 Beta hydroxy steroid dehydrogenase deficiency in

twins.

169
 Simple virilising CAH; ACTH stimulation test showed profound increase in
dehydroepiandrosterone due to 3BHSD deficiency .

3-Beta–hydroxysteroid dehydrogenase (3BHSD) deficiency is a

rare form of congenital adrenal hyperplasia that results in
decreased production of all 3 groups of adrenal steroids:
mineralocorticoids, glucocorticoids, and sex steroids. In severely
affected individuals, decreased mineralocorticoid secretion
results in varying degrees of salt wasting in both males and
females. In the females 3BHSD results in an increase in
Dehydroepiandrosterone which is weakly androgenic and
produces virilisation of the external genitalia seen in the above
cases

Deficient androgen production results in ambiguous genitalia in

46, XY males with small phallus and hypospadiac urethra.

The management is similar to other forms of CAH where gluco

and mineralocorticoid substitution is given.

It is extremely rare to see 3bhydroxy steroid dehydrogenase

deficiency in twins.( Discussed in detail in case 23 of case
reports)
170
Case 3. Vestibular anus in identical twins

Identical twins with ARA (vestibular anus)

Vestibular anus with anorectal anomaly in female children is

common. But is extremely uncommon in twins. Anorectal
anomalies in twins have been reported at least five times in the
literature and most of them were low anomalies in the form of
recto cutaneous or recto perineal fistulae. The above two
children underwent anterior sagittal anorectoplasty.

Case 4. Ectopia vesicae in dizygotic twins

Ectopia vesicae in dizygotic twins (twin one has exomphalos minor)

171
Ectopia vesicae in twins is very rare . There are two documented
cases in the literature by Charles S Higgins and Merete . Vesical
exstrophy in dizygotic twins is extremely rare. The first twin also
had exomphalos which was dealt in the neonatal period. They
did not turn up for subsequent follow up.

Case 5 Monozygotic twins with Duodenal atresia

Identical twin girls with duodenal atresia (watch VGP)

Monozygotic twins were admitted with identical symptoms of

duodenal atresia with bilious vomiting, visible gastric peristalsis,
failure to pass meconium, and double bubble gas appearance in
X.Ray. They did not have any clinical features of trisomy .
Treated surgically for duodenal atresia.

Duodenal atresia though well known, the presence of it in

monozygotic twins is very rare. Takahidae Yokhayam reported
duodenal atresia in dizygotic twins without downs syndrome.
Antenatal diagnosis of duodenal atresia in dizygotic twins
associated with congenital hearing impairment was reported by
Stavros Sifakis,

Case 6. Monozygotic twins with right congenital hydrocele

and umbilical hernia

172
 Monozygotic twins with identical right hydrocele & umbilical hernia

2 months old twins were seen with right congenital hydrocele of

the same size and umbilical hernia. The parents were counselled
that the lesions will disappear over a period of time.

Both the conditions are very common presentations in children

but presented here because it happened in monozygotic twins in
an identical manner.

173
4. Gastro intestinal cysts
Chylous mesenteric cysts

A 40 day old male baby presented to us with the history of

sluggish activity and poor feeding since three days. Child had
non bilious vomiting. The abdomen was distended and shiny .
(Fig 1) It was previously admitted in newborn intensive care on
8th postnatal day I and treated as sepsis. Stay in NICU at that
time was uneventful.

Fig 1. Abdominal distension due to volvulus of bowel with mesenteric cyst.

Ultrasonogram done showed a cystic intra-peritoneal mass in

right lumbar & umbilical region consistent with mesenteric cyst
with volvulus of small bowel with peritonitis

The child was taken up for surgery and per-operative findings

were a large Chylous mesenteric cyst was present in the
proximal jejunum with volvulus of bowel and two perforations
in the mid-jejunum (Fig 2) Resection of the Mesenteric cyst with
6 Inches of the attached jejunum was done (Fig 3) . Intestinal
continuity was established with jejuno jejunostomy . About 12
inches distally two perforations were present in the jejunum The
involved segment was resected and anastomosis done. Post
operative period was un eventful.

174
 Fig 2. Mesenteric Chylous cyst with volvulus of bowel

Fig 3. Resected mesenteric cyst with stretched out bowel

Histopathology:

A large thin walled multiloculated cyst of 8 cm in diameter with

Chylous fluid histological features consistent with benign
mesenteric cyst, Lymphangiectasia was seen in periserosal layer
of the small bowel segment and this layer was continuous with
the cyst.

Two other cases of Chylous Mesenteric cysts were seen

incidentally in Ultrasonagram done for vague abdominal pain
and vomiting in two children. Fig 4 shows multiloculated cyst
containing white chyle. The bowel was resected along with the

175
Chylous cyst and bowel continuity established. Child made good
recovery.

Fig 4.A Chylous Mesenteric cyst attached to the bowel . B . Multiloculated

attached to the mesentery. C. Resected specimen of the Chylous cyst with the
bowel.

The second child presented as vague pain , recurrent vomiting

and abdominal swelling. Ultrasonogram was suggestive of
loculated mesenteric cyst. Surgical resection of the cyst with the
bowel was removed. The cyst was bilocular (Fig 5) and
histologically was chylolymphatic cyst.

Fig 5. Bilocular Chylo lymphatic mesenteric cyst .

In some children the serous mesenteric cyst may be primary

lesion but may have Chylous mesenteric cyst may be apart of it

A newborn male child was admitted with gross abdominal

distension. Ultrasound abdomen was suggestive of large
multilobulated mesenteric cyst.

176
Laparotomy showed a large mesenteric cyst multiloculated with
a single cyst showing chyle accumulation. The cyst was removed
with the attached small bowel and the neonate made uneventful
recovery. Fig 6

Fig 6 A&B newborn with gross abdominal distention; at surgery showed a

large multi loculated cyst (C) with chylous cyst (D) as a part of mesenteric cyst

Mesenteric cysts

A male new born prenatally diagnosed as cyst in the abdomen

was seen in nursery. The child was asymptomatic with clinically
palpable cyst in the left side of the abdomen. Ultrasonogram
showed it to be mesenteric cyst from small bowel. Exploration of
abdomen revealed a large unilocular cyst in the mesentery of the
small bowel which could be easily peeled off from the
mesentery. It was excised and the child made good recovery.
Histologically it was compatible with mesenteric cyst. Fig 7.

Fig 7. Large uni-locular mesenteric cyst attached the small bowel , could be
removed completely form the mesentery of the bowel.

177
Though in the above case it was unilocular many are
multilocular. An older child who presented with recurrent
abdominal pain on ultra sonogram was diagnosed to have
multiloculated mesenteric cyst. Laparotomy revealed
multiloculated serous cyst of the small bowel which was
removed along with the attached bowel. Fig. 8

Fig.8. Multiloculated serous mesenteric cyst excised with affected bowel.

A five year old child with vague abdominal pain and swelling in
the epigastrium and right hypochondrium underwent
ultrasonogram which suggested a large cyst arising from the left
lobe of liver. Laparotomy revealed fluid filled large thin walled
cyst arising from the inferior margin of the left lobe of the liver .
It was neither from the omentum or from the mesentery of the
bowel but jut fluid filled sac form the peritoneum covering the
liver which is extremely a rare presentation. Fig.9. It was
completely removed and the child made uneventful recovery;

Fig.9. Large thin-walled fluid filled cyst arising from the peritoneum covering
the left lobe of the liver margin.
178
A 5 year old child right sided abdominal pain and swelling
underwent ultrasonogram which showed a large right
retroperitoneal multilobulated cyst suggestive of retroperitoneal
lymphangioma. Exploration revealed a right retroperioneal
multiloculated cyst attached to the ascending colon mesentery
from which it could be dissected completely. Fig. 10

Fig.10. Right retroperitoneal multilocular cyst.

Omental cysts

Case 1.

A five year old boy clinically diagnosed as ascites was referred

to paediatric surgical ward to exclude any giant cyst in abdomen
since the child was otherwise apparently normal with liver, renal
and cardiac functions. The child was seen pre ultrasonogram and
CT era. The fluid in the abdomen was tapped and air injected to
see whether it is ascites or loculated cyst. There was fluid level
in the abdomen suggesting a giant cyst masquerading as ascites.
Laparotomy revealed a multiloculated cyst arising from the
omentum which was removed and the child made uneventful
recovery. Fig 11.
179
Fig 11 A. Injection of air after aspiration of fluid shows fluid levels in Xray of
abdomen suggestive of cyst. B Operative specimen showing large multilocular
cyst, C Post operative picture of the child.

Case 2.

A three-year-old girl child came with complaint of abdominal

swelling more prominent in the umbilical region extending on to
the left loin. Clinical examination showed a large cyst occupying
the whole abdomen more prominent on the left loin. (Fig 12A)
CT scan of abdomen showed a multiloculated cyst more on to
the left side extending from the diaphragm to the pelvis. (Fig
12B) A diagnosis of Omental cyst was made . Through a left loin
incision the cyst was decompressed and delivered. It was arising
form the greater omentum and was attached to the stomach. (Fig
12 C) The cyst was removed along with the greater omentum
from the greater curvature. (Fig 12 D) The child made
uneventful recovery.

180
Differential diagnosis.

The differential diagnosis is duplication cyst of the bowel. The

majority of duplication cysts are in the antimesenteric. But can
happen in the mesenteric side also Fig 13 shows a large
duplication cyst of the stomach. The whole duplication cyst of
the stomach was removed except the portion of the duplication
that was adherent to the stomach. The mucosa of the adherent
segment stripped off from the muscularis which was sutured.

Fig.13. Large duplication cyst of the stomach attached to the greater curvature
of the stomach

A 18 months marasmic child was admitted with vomiting

abdominal pain. Clinically he had a mass in the right
hypochondrium extending to umbilical region. (14 A,B)
Ultrasound abdomen was suggestive of cyst attached to greater
curvature of the stomach extending up to pylorus. Exploration
abdomen revealed a thick walled large cyst attached to greater
curvature in the antral region stretching the pylorus. (14 C,D)
The cyst was opened and excised completely except a small strip
attached to the greater curvature and the pyloric area. The
mucosa was stripped from the muscularis of the strip of cyst and
the muscularis was sutured. (14 E,F) The child made uneventful
recovery.

181
Fig 14 A&B marasmic child with mass in right hypochondrium & epigastrium
C&D large cyst attached to the greater curvature of antrum & pylorus of
stomach E&F the cyst was excised from the stomach

Intestinal duplications can happen anywhere in the small bowel

to rectum . They may be small or may extend over a length of
intestines. It usually does not communicate with the bowel but
may communicate and have ectopic gastric mucosa resulting in
melena. Fig 15

Fig 15. Mesenteric cyst in different locations.

182
 A. Large tubular duplication in antimesenteric border; B cystic
duplication of terminal ileum, C. Cystic duplication of jejunum; D Large
colonic duplication on antimesteric border

Fig 16. Colonic duplication along the whole length of transverse colon

Duplication of bowel may also be responsible for recurrent

intussusceptions. Fig 17

Fig 17.Cystic duplication of terminal ileum causing recurrent intussecption

Intestinal duplications may not be attached to the bowel but may

be lying free in the peritoneal cavity with its own mesentery and
called sequestrated duplications or isolated duplications. The
treatment is primarily surgical. Fig 18

183
 Fig 18.C Sequestrated duplications of small bowel

Discussion

Mesenteric cysts are most commonly single and multiloculated;

the fluid is generally serous when the cyst involves the distal
small bowel or colonic mesentery and Chylous when it is located
in the proximal small bowel mesentery. These cysts arise in
sequestered lymphatic channels or ectopic lymphatic tissue in the
small bowel mesentery and enlarge by accumulating both lymph
and chyle. The accumulation of chyle and lymph is thought to
result from an imbalance between the inflow and outflow of fluid
across these channels. The cysts may be asymptomatic or may
manifest with abdominal pain, distension, lump, or intestinal
obstruction Amongst the three children one had volvulus and the
other two had abdominal symptoms. Management is essentially
surgical. Since the cyst wall is attached closely with the bowel
which is stretched over the mass, the cyst is excised with the
involved bowel. Occasionally it may be possible to remove the
cyst without sacrificing the bowel.

Mesenteric cysts are rare and still rarer to see three cases of
Chylous mesenteric cysts in children.

184
Mesenteric cysts containing serous fluid in different locations,
unilocular, multilocular, and retroperitoneal areas have been
illustrated.

Large omental cyst masquerades as ascites. They are benign and

simple excision is enough. Mesenteric and omental cysts are
thought to represent the benign proliferation of ectopic
lymphatics that lack communication with the normal lymphatic
system that failed to communicate normally with the lymphatic
system.

Duplication cysts simulate mesenteric cysts. They are

antimesenteric, mesenteric, and can be intramural. They may
communicate with the parent bowel. It may be small or tubular.
Can be responsible for recurrent intussusception. Sequestrated or
isolated duplication is very rare. The wall of duplication is
usually thick, with well-formed muscle layers. The epithelial
lining may consist of gastric, intestinal, or respiratory-type
epithelium, and it may contain heterotopic pancreatic rests.
Complete excision is the treatment of choice.

185
5. A pictorial illustration of
Rhabdomyosarcoma (RMS) in children
Rhabdomyosarcoma (RMS), is one of the most common soft
tissue sarcomas of childhood. RMS is the third most common
childhood extracranial solid tumor, after neuroblastoma and
Wilms’ tumor. A bimodal age distribution is found, with
approximately 65% of cases occurring in children younger than
6 years and the remaining cases occurring in children aged 10 to
18 years.

Neonatal RMS

It is very rare in the neonatal period (0.4–2% of cases). RMS are

also seen during the neonatal period. Given the young age,
disease management is often challenging, and especially for the
alveolar subtype, the outcome is dismal despite intensified
multimodality therapy. Neonatal rhabdomyosarcoma is rare, Fig
1. and the characteristics and optimal therapy for patients with
this condition have not been well described. We have seen six
New born lesions. Five in the trunk and neck and one in the
urinary bladder. Fig 1. and Fig 2.

Fig 1 (A and B) Shows diffuse RMS involving the left upper extremity. Fig 1.(C)
Presented with ulcerative lesion left gluteal region Fig 1 (D) A plaque like

186
lesion in the left leg beneath popliteal fossa. Fig 1(E) . A large shiny lobulated
mass over the neck. 1(F) Presenting like an abscess.

RMS of urinary bladder and prostate

A new born was brought with history of urinary dribbling and

haematuria. Clinically had distended bladder and MCUG showed
filling defect in the base of bladder and prostate. An excision
biopsy of the bladder lesion showed it to be botryoid appearance
and biopsy was that of embryonal carcinoma. (Fig 2) Child had
chemotherapy and with in three months showed secondaries in
the forehead and was proved to be RMS. (Fig 3)

Fig 2 A. New born with distended bladder Fig 2 B. .MCUG showing filling
defect in the base of bladder with bilateral vesico ureteric reflux. Fig 2 C. Same
child with filling defects in the prostate. Fig 2D. Excision biopsy specimen of
the Bladder RMS showing the botryoid appearance.

Fig 3 Secondary deposits in the forehead of the same patient in figure Fig 2.

187
RMS in face and neck

Fig 4. Face and neck RMS.

RMS in face and neck have varied presentations. Periorbital

RMS may present as orbital cellulitis. (Fig.4A). Fig 4B the
tumour in the right upper eye lid shows fine feathery blood
vessels indicating underlying malignant lesion.

Fig 4C presented as a submandibular swelling with paresis of

depressor anguli oris. Fig 4D & E shows that the RMS tumour in
the neck swellings, and in the para-tracheal region may
masquerade as thyroid swelling.

Fig 4 F&G the RMS presented as infected lesions containing

thick cheesy material which on histology showed it to be RMS.
Fig 4H with large multilobulated neck swelling on the right side
was advanced RMS.

RMS involving deeper aspects of neck infiltrating into cranial

nerves and paramaeningeal types. nasal sinuses carry a bad
prognosis

188
Rhabdomyosarcoma in extremities and trunk

FIG. 5. RMS in extremities and trunk. Seen in gluteal , perianal, upper and
lower extremities , scapular and pectoral regions.

Rhabdomyosarcoma in extremities and trunk are quite common.

Some in the gluteal region are initially thought as abscess and
conservatively treated or incised. (Fig 5A to C) Perianal RMS
are also initially thought as abscesses and sometimes incision
and drainage done (Fig 5 D & E). Most of the RMS in
extremities and trunk are Alveolar type and carry a poorer
prognosis. (Fig F to J) Current methods of aggressive surgery,
Chemo and radiotherapy the prognosis have improved
Infiltration of tumour in the lymphatic drainage area will
produce edema of extremities simulating elephantiasis.(Fig 6)

Fig 6. Infiltration of RMS in the thigh giving elephantiasis appearance.

189
RMS of breast is unusual. It may be primary or secondary to
RMS elsewhere. usually seen in adolescence (Fig 7) or in
middle age. Treatment is primarily mastectomy and adjuvant
chemotherapy.

Fig 7. RMS right breast showing fine blood vessels coursing over the tumour.

Vaginal RMS

Fig 8. A to D vaginal RMS with mass protruding out of the vagina. Fig E shows
CT scan showing the mass occupying the whole vagina in the case D.

Vaginal RMS is again a common site for rhabdomyosarcoma

and more often seen infancy and younger age group. It may
present initially as vaginal bleeding or may present with a mass
protruding from the vagina. (Fig 8 A to D) Biopsy is
confirmatory . It is usually botryoid type and embryonal in
histology. A CT scan will show the extent of the disease. (Fig 8
E) The treatment will involve neoadjuvant chemotherapy and
surgical excision after the tumour has regressed which may
involve removal of uterus and vagina. Conservative management

190
of sexual and reproductive functions have been tried in vaginal
RMS with success, It involves tumour shrinkage by
chemotherapy followed by residual tumerectomy and if
necessary further chemotherapy. Need a long term follow up to
see recurrences.

Para testicular RMS

Para testicular RMS is another common site for RMS which calls
for removal of the testicular tumour . (Fig 9) A CT scan will
reveal whether nodes are positive or not. Routine exploration and
excision of the of the nodes is not recommended unless they are
enlarged and positive for deposits. Adjuvant chemotherapy and
radiotherapy is given based on the stage of the disease.

Fig 9. A&BParatesticular RMS.C The cut section of the tumour is shown.

Recurrent RMS

Recurrences following surgery for RMS occur basically because

it is an aggressive tumour and incomplete resections, presence of
tumour at the margin of resection and infiltration into deeper
structures results in recurrence. Fig 10 shows local recurrence in
after surgical resection for RMS from abdominal wall shoulder,
chest wall and gluteal regions . They need chemo , resurgery,
radiotherapy depending on the extent of the recurrence and the
histology.

191
Fig 10. Local recurrence of RMS after initial resection of the
tumour.

Conclusion

RMS is an aggressive tumour. Early diagnosis and complete

surgical removal followed by chemotherapy and if necessary
radiotherapy has improved the survival in children. The above
chapter is only a pictorial depiction of RMS in various sites. For
more through information, readers are requested to study the text
in standard text books and current literature on RMS.

192
6 Pictorial illustration of some rare
neural tube defects.
Myeloschisis

Fig 1.Myeloschisis open neural tube appears as a flattened, plate-like mass of

nervous tissue with no overlying membrane

Myeloschisis is a rare form neural tube defect . The two children

posted above show that the neural tube has failed to close
resulting in the spinal cord exposed outside without the covering
sac. It is a major anomaly with paralysis of lower limbs , bowel
and bladder. They also have varying degrees of Arnold Chiari
malformation. The spinal cord is exposed to the environment,
absent meningeal/skin covering. In this type, the involved area is
represented by a flattened, plate-like mass of nervous tissue with
no overlying membrane. The exposure of these nerves and
tissues makes the baby more prone to life-threatening infections
such as meningitis

Rachischisis totalis, also known as complete spina bifida, refers

to a severe form of spina bifida where there is a cleft through the
entire spine. The severe form of a neural tube defect where the
193
open neural tube appears as a flattened, plate-like mass of
nervous tissue with no overlying membrane. Spina bifida with
myelocele is the most severe form of myelomeningocele. The
protruding portion of the spinal cord and the nerves that originate
at that level of the cord are damaged or not properly developed.
As a result, there is usually some degree of paralysis and loss of
sensation below the level of the spinal cord defect. Both the
children were taken home after the prognosis was explained to
the parents.

Meningomyelocele with uterine and rectal

prolapse.(Neonatal Genital prolapse (NGP))

Fig 2. Myelomeningocele in a neonate with prolapse uterus and rectum

The neonate above had classical meningomyelocele involving

thoraco lumbar region. The new born had prolapse of the uterus
and rectal prolapse. The child had paresis of both lower
extremities

Neonatal uterine prolapse is rare and has been documented

mostly due to spina bifida. It is probably due to abnormal
innervation of levator ani and subsequent atrophy of the muscle

194
in patients with spina bifida. The cause of the prolapse of the
rectum is also due to paresis or paralysis of levator ani muscle.

There are a wide range of treatment modalities for NGP. The

most conservative intervention is digital reduction, which can be
effective for mild NGP. This has a substantial risk of recurrence.
For moderate prolapse, intravaginal support can be utilized while
pelvic structures mature during the neonatal period. Intravaginal
self-retaining devices include pessaries, Foley catheter balloons
and even inverted rubber nipples. For gross prolapse and
recurrent prolapse, labial adhesion by sutures taking care to
allow intermittent catheterisation of the urethra has been
successful . The adhesions are released after six weeks.

In this child no surgery was done since the parents took the child
when the long-term prognosis of myelomeningocele was
explained.

Lateral thoracic meningocele

Fig 3.Lateral meningocele.

195
Lateral meningocele is a rare anomaly. Lateral thoracic
meningocele is a type of spinal meningocele resulting from
herniation of the meninges through a foramen or a defect in the
vertebral column. They are typically associated with
neurofibromatosis type I but can occur in isolation. In this one
year old child a brilliantly transilluminant swelling in the thoraco
lumbar region on the left side was seen. There was
kyphoscoliosis to the left. There were no obvious neurological
defects in the child. Plain Xray of the lumbar and thoracic
vertebra did not show any obvious abnormality except the
kyphoscoliosis. It was in the era when CT and MRI were not
available in the government hospital. The meningocele was
excised and the defect was reinforced with lumbar facia. The
child made good recovery.

Split notochord syndrome

Fig 4. Three children with split notochord syndrome

Three children with Split notochord syndrome is presented

above. The child in fig 4A was admitted in the new born period
in late seventies, with red patch perched over the kyphotic spine.
There were no neurological deficits in the limbs. A diagnosis of
exposed neural plaque was made. During surgery the meningeal
sac was absent and lumbar facia was dissected and covered over

196
the suspected neural plaque. The wound gave away . The mother
notice mucoid discharge from the plaque. A biopsy of the plaque
showed it to be intestinal mucosa. The plaque was completely
removed and wound closed. The wound healed well. A diagnosis
of split notochord syndrome was made. Fig 4B shows a new
born with a reddish glistening structure like a prolapsed bowel. It
was completely removed along with a core of fibrous tissue
entering the spinal canal. Histologically it was intestinal
structure. Fig.4 C A new born was seen with a reddish mass
entering into a sac in the dorso lumbar region. A clinical
diagnosis of split notochord was made and the mass with the sac
was excised including the central core of the tissue.
Histologically it was enteric remanent. All the cases were seen in
late seventies and early eighties when MRI and CT were not
available. X Rays of dorso lumbar showed Spinal bifida except
case number A also had kyphosis.

Split Notochord Syndrome (SNS) represents an extremely rare

and pleomorphic form of spinal dysraphism characterised by a
persistent communication between the endoderm and the
ectoderm resulting in splitting or deviation of the notochord.

Fig 5. Diaphragmatic representation of split notochord syndrome.

197
 It manifests as a cleft in the dorsal midline of the body through
which intestinal loops are exteriorized and may be associated
with myelomeningoceles or teratomas. Occasionally intestinal
contents will be discharged from the back showing connection
with the intestines in the abdomen.

Currently MRI will show diplomyelia with a bony spur in

splitting the spinal cord into two halves. surgery is technically
demanding especially if the tract communicates with the bowel.

Lipomyeloschisis and Lipomyelomeningocele with unusual

skin tags mimicking penile structures.

Lipomyeloschisis and lip myelomeningocele are closed spinal

dysraphism , With Lipomyeloschisis, the lipoma is inside the
spinal canal, whereas with Lipomyelomeningocele the lipoma is
outside the spinal canal inside a meningeal outpouching. .
Externally, these lesions appear in the midline and can range
from tiny subtle fatty lumps to large masses often accompanied
by skin tags, port-wine stains, haemangiomas, and an altered
intragluteal fold. The lipoma grows through the vertebral defect
and attaches to an elongated and tethered spinal cord and often
disturbs the formation of neural elements by adhesion or
pressure

Fig 6. Lipomeningoceles mostly in lumbosacral regions, Dimple, skintags and

hair growth are seen

Most will develop neurological symptoms within the first few

months to years of life. Neurological symptoms are caused by

198
tethering of the spinal cord, especially during growth spurts, and
compression that results from progressive deposition of fat,
especially during periods of rapid weight gain. Clinical
manifestations include deformity and weakness of one or both
lower extremities and bowel and bladder dysfunction.

In two of the lipomeningocele cases there were skin tags

resembling penis and scrotum as in Fig 7A and penis like
appearance in Fig 8.

In the first case there was intraspinal extra dural lipoma which
was completely removed. The child also had a dimple in the skin
but was not communicating like a dermal sinus. which was also
excised.

Fig 7. The penis like appearance is a skin tag giving a pseudo penis
appearance and inter gluteal blind ending sinus is seen. B. Shows extraction of
extra dural lipoma from the spinal canal.

The second case was that of a large lipomeningocele in the right

gluteal region arising from sacral vertebral defect. It had small
rudimentary pseudopenis which had only a skin tag without any
lumen or corpora.

199
 Fig 8 . Sacral lipomeningocele with rudimentary penis like structure.

The surgery for Lipomeningocele is technically demanding

needing fine , tedious microdissection, identifying the nerve
roots and preventing injury to the spinal cord. Even after surgery
the recovery of function may not be normal. Further
deterioration can also happen. It is usually not associated with
hydrocephalus. Some children progress despite surgery, which
may be related more to a dysfunctional conus than to tethering
effects

Meningoceles and encephaloceles.

Cervical and lumbar Meningocele. in the same child.

Fig 9. Cervical and lumbar meningoceles in the same child.

200
Meningoceles and meningomyeloceles are common in the
lumbar region, Cervical meningoceles are rare. The presence of
both cervical and lumbar meningoceles is a rare combination.

The meningoceles and meningomyeloceles are due to defect in

the neural tube closure.

Fig2. Neural plaque forming a neural tube with anterior and posterior
neuropore which are the sites for meningoceles.

The neural plaque starts fusing in the mid thoracic region and by
26 days it is almost closed except the cephalic anterior neuropore
and posterior neuropore . Failure of neuropore closure results in
meningoceles in the cervico dorsal region. Since the posterior
neuropore closes later than the anterior neuropore the lumbar and
sacral meningoceles are commoner in than the cervical
meningoceles.

Multiple abnormalities were documented radiographically and

operatively, including hydrocephalus, Chiari malformation,
hydromyelia, lipomeningomyelocele, tethered cord, thickened

201
filum terminale, diastematomyelia, Klippel-Feil syndrome, and
thoracic hemivertebrae.

Isolated cervical meningoceles are uncommon.

The following three cervical meningoceles contained only CSF

with a thin thread of fibrous tissue extending to the extra dural
space thorough the spina bifida and was removed. There was no
neurological deficit.

Fig 10: Three children with Cervical meningoceles.

Cervical meningoceles may be associated with Klippel Feil

syndrome a rare combination. It may be anterior meningoceles or
posterior meningoceles. The Klippel-Feil deformity is a complex
of osseous and visceral anomalies, which include low hairline,
platybasia, fused cervical vertebrae with a short neck, and
deafness. Associated central nervous system abnormalities
include occipital cephalocele, Chiari I malformation, syrinx,
microcephaly, and hydrocephalus.

The following is a newborn child with a large cervical

myelomeningocele with Klippel Feil syndrome with low hair
line and complex mass in the cervical region extending on upper
thoracic region. The parents did not want any surgery and took
the child home.

202
 Fig 11. Klippel Feil syndrome with complex myelomeningocele in cervico
thoracic region.

Cervical meningoceles may be associated with cerebral

encephalocele. The following is the case of new born who had
occipito cervical meningo encephalocele, associated with lumbar
lipomeningocele with dermal sinus showing cerebro spinal
neural tube defect. Child also had microcephaly and the
prognosis was explained to parents who did not want surgery.

Fig 12.. Occipito cervical meningo encephalocele with lipomeningocele in

lower lumbar region and dermal sinus with patulous anus.

203
Encephaloceles.

Fig.13. Encephaloceles in the frontal and occipital area in two children.

Encephalocele also known as meningoencephalocele, is a form

of neural tube defect , where brain tissue and overlying meninges
herniate out through a defect in the cranium. It is seen more
often in occipital area than in the anterior aspect. The overall
incidence seems to have come down probably due to prenatal
termination of the condition. It can be a pure meningocele or
meningo encephalocele. The occipital encephalocele can extend
over the cervical region as shown in the diagram on cervical
meningoceles. Occipital encephaloceles may be associated with
a number of additional abnormalities: Chiari malformations
,Dandy-Walker malformations , hydrocephalus, microcephaly.
Some of them attain massive size and post surgical
complications are vey high in them.

Fig 14.. Encephaloceles of large size some with microcephaly.

204
Those that live with occipital encephaloceles often have more
problems, including delays in development, visual problems,
balance and coordination problems, hydrocephalus and seizures.
The following case illustration outlines the follow up of a case
with larger encephalocele operated.

A newborn with a large occipital encephalocele was operated

(Fig 15). Within a year the child went in for craniostenosis and
small bulge started appearing in the occipital area. Radiological
studies revealed that the child had hydrocephalus. A Ventriculo
peritoneal shunt was done.

Fig 15. Large encephalocele operated. Child developed craniostenosis and

protrusion of the brain through the occipital defect.

The child’s vision was poor and started developing repeated

convulsions. The shunt needed revision twice and ultimately
died due to cerebral infection and shunt related complications.
The above case illustrates the poor prognosis in majority of the
children operated for very large encephalocele.

However we do get some surprises. A newborn with large

encephalocele operated and followed up. His intelligence was
normal and except for squint the vision was normal. (Fig 16). He
was subsequently referred for cranioplasty by the neurosurgeon.

205
Fig 16. Large encephalocele operated with near normal intelligence. The large
defect in the skull is obvious.

Another child with fairly large encephalocele also recovered well

with normal intelligence. (Fig 17)

Fig .17. Large Occipital encephalocele, surgical excision done with near
normal growth and development.

Frontal encephaloceles.

Fig 18. Frontal encephaloceles one with craniostenosis and the other with
nasal deformity and hypertelorism

206
Frontal encephaloceles have been classified by Suwanwela and
Suwanwela (1972) into frontoethmoidal, interfrontal, and those
associated with craniofacial clefts. Basal encephaloceles may
project into the oral cavity and nose. Therapy for
frontoethmoidal encephaloceles consists in excision of the
encephalocele, watertight closure of the dural defect and
reconstruction of the skull defect. Basal encephaloceles may
harbour vital herniated structures which should be saved.
Hydrocephalus should be dealt with first, followed by elective
single-stage reconstructive surgery. The prognosis appears to be
better for patients with frontoethmoidal encephaloceles than for
patients with occipital or parietal encephaloceles, and it depends
largely on the presence of additional congenital anomalies of the
brain.

Currently major surgical reconstruction to conserve the neural

contents of the encephalocele is done. Frontal craniotomy is
done to create a space to accommodate the encephalocele
contents. The encephalocele contents are gently plicated in the
cranial cavity. The resultant cranial defects are covered with
bone grafts. This procedure allows conservation of neural
elements and prevents neurological damage.

The case referred to above (Fig 18) the first child had
microcephaly and fronto nasal encephalocele. The second case
was primarily frontal with severe nasal deformity with
hypertelorism. The child needed staged repairs of the cranial
defect and reconstruction of nose and correction of
hypertelorism. Both patients did not want to have surgery.

Small encephaloceles

207
 Fig 19: Small occipital encephaloceles

Small encephaloceles carry a good prognosis. The sac usually

contains cerebrospinal fluid. Three children with small occipital
encephaloceles were seen in our practice. All three were
physically normal. There was no hydrocephalus and the sac did
not contain any cerebral tissue. Excision of the sac was curative.
In one of the new-born the mother had slightly enlarged skull
with hypertelorism. A skull Xray showed a defect in her
occipital bone. It is extremely rare to see a child and mother both
having identical skull defects the child presenting with occipital
meningocele and the mother with a circular defect in occipital
bone.

Fig.20. Mother of the child with occipital meningocele showing a skull defect in
the occipital bone.

208
Lateral or temporal meningocele in a hydrocephalic child.

A six months old child was brought with swelling on the right
side of the skull at the parietal and temporal junction slowly
increasing over one month. The mother had noticed the child’s
head was larger and the right sided swelling started one month
ago which increased rapidly to the present site. Radiological
investigations confirmed hydrocephalus with ventriculomegaly
with herniation of meninges through the right parietal and
temporal region. A Ventriculo peritoneal shunt was done and the
swelling regressed.

Fig 21. Right parieto temporal meningocele with hydrocephalus.

Conclusion.

Neural tube defects like myelomeningoceles, encephaloceles

produce neurological deficit inspite of surgery. It is a burden to
the parents since these defects produce great economic and
social liability. Since preconceptual folic acid has significantly
reduced the incidence of these defects , it is mandatory to advise
intake of preconceptual folic acid to all the prospective mothers.

209
7. Severe Popliteal Pterygium syndrome
and Pterygium of the thighs with total
penoscrotal transposition in two
different children.
Case 1.

A newborn child presented with severe webbing of the thigh and

leg bilaterally with foot abnormalities. The foot was deformed
like a claw foot with great toe separated by 4th and 5th toes . The
2nd and third toes have not developed. The penis was short with
the absence of prepuce. The webbing of the thigh and the leg
extended over the whole length of thigh and the leg up to the
ankle on both sides. The need for staged repairs was explained to
the parents who did not turnup for further treatment.

Fig. Severe popliteal pterygium with penile and foot abnormalities

Popliteal pterygium syndrome is a condition characterized by

skin webs on the popliteal fossa, which may impair mobility
unless surgically repaired. Affected individuals may also have
syndactyly on the fingers and/or toes. Most people with this
disorder present cleft lip and cleft palate and they can have
syngnathia, that is a congenital adhesion between maxilla and
210
mandible by fibrous bands, which affects the opening of the
mouth. They have digital anomalies that include hypoplasia or
agenesis of digits, syndactyly, valgus or varus deformities of the
feet and oral anomalies such as cleft lip-palate. They need staged
plastic repairs to make them ambulant.

Case 2

A one year old child brought to the hospital for abnormality in

the thighs and external genitalia. The posteromedial aspect of
both thighs were fused together by a skin bridge The penis
scrotum with the testicles were situated below the web just above
the anus. The child was passing urine normally and there were
no associated anomalies. It was planned to separate the web for
normal mobility of the child and leave the penoscrotal
component intact.

Fig 2. Pterygium of the thigh with complete penoscrotal transposition

Though pterygium of popliteal region has been well documented

pterygium of the thighs is extremely rare. It is still rarer to have
penis and scrotum transposed totally just above the anus.

211
8. Macroglossia
Conventionally macroglossia is defined as the protrusion of the
tongue beyond the teeth. It is usually reserved for painless
enlargement of the tongue of long-standing nature. The pseudo
macroglossia is where the tongue protrudes due to the smallness
of the mandible.

Macroglossia in children, may be due to muscular hypertrophy,

lymphangiomas, vascular malformations, neurofibromas, or it
may be part of Beckwith Weidman syndrome, hypothyroidism,
and chromosomal abnormalities. It results in an unsightly
appearance of the face, constant drooling of saliva, difficulty in
swallowing resulting in in failure to thrive. Aspiration and life-
threatening complications can develop in large lesions. Herein
we present eight children with different aetiologies.

Congenital muscular hypertrophy of the tongue

A newborn child was brought with swelling and projection of

tongue outside the mouth. The distal half of the tongue was
uniformly thick, The thyroid profile was normal. A diagnosis of
muscular hyperplasia of the tongue was made and the distal
protruding thick portion of the tongue was excised and tongue
reconstructed. Histologically it was muscular hypertrophy of the
tongue.

Fig 1. Muscular hypertrophy of the tongue producing macroglossia.

212
Macroglossia due to lymphatic malformation.

A five-year-old boy was seen with gross hypertrophy of the

tongue protruding out of the tongue. The tongue had fine
vesicles suggestive of lymphatic malformation. A wide inverted
V excision of the tongue was done. The child is on Sirolimus for
control of residual lymphangioma

Fig 2. Macroglossia due to lymphatic malformation before and after surgery

(Courtesy Dr.Pavai)

One another boy of 12 years had undergone twice resection of

lymphatic malformation of the tongue has still vesicles in the
tongue that had been resected.

Fig 3. Residual lymph vesicles in the tongue after resection of the major
portion of the tongue.

Lymphatic malformation may involve a portion of the tongue

producing hypertrophy.

213
 Fig 4. Lymphatic vesicles in the proximal portion of the tongue,

Various treatment modalities have been used for the

management of the tongue with lymphatic malformations. Large
lesions need reduction surgery which is the procedure of choice.
Smaller lesions can be managed by intralesional bleomycin
Other modalities used include laser ablation with long-pulsed
Nd-YAG or CO2 laser, radio frequency. In the management
there is no consensus on the timing of surgery. Despite the
variety of possible treatment modalities, the management of LMs
of the tongue still represents functional and aesthetic problems
for the patients and can be challenging.

Neurofibroma of the tongue

Neurofibroma of the tongue may produce macroglossia. A ten-

year-old boy was seen with left hemihypertrophy of the tongue
with an irregular surface. It was a solitary lesion. There were no
other lesions in the body to suggest neurofibromatosis. The
involved portion of the tongue was excised and reconstructed.
Histologically it was a neurofibroma

Neurofibromas rarely occur within the oral cavity and

infrequently involve the tongue.

214
 Fig 5. Solitary neurofibroma involving the left side of the tongue.

Congenital hemihypertrophy of the tongue.

A two-year-old child was seen with a swelling on the right half

of the tongue. (Fig6) . Clinically there was no evidence of any
pathology like lymphovascular malformation. The tongue was
uniformly enlarged. The right lower limb was slightly larger than
the left lower limb. Such hemihypertrophy may be associated
with unilateral hypertrophic enlargement of the teeth, alveolar
bone, tongue, and oral mucosa, all of which end abruptly at the
midline, which may aid in establishing a diagnosis of congenital
hemihypertrophy.

A diagnosis of partial hemihypertrophy of the tongue was made.

A routine check was done to exclude associated anomalies,
especially for renal tumors. The parents were reassured.

Fig 6. Congenital hemihypertrophy of the tongue.

215
Beckwith Weidman syndrome with macroglossia.

A newborn child was seen with multiple anomalies. It had a

thick tongue protruding out of the mouth, exomphalos minor,
distal hypospadias, and bilateral undescended testis. (Fig 7)
Thyroid profile was normal. There was no hypoglycemia. A
diagnosis of Beckwith Weidman syndrome was made (BWS).
The exomphalos was corrected and the mother asked to come for
surgery for undescended testis and hypospadias repair later.

Fig 7. Beckwith Weidman syndrome with a thick tongue, exomphalos,

hypospadias, and undescended testis, supernumery finger

Beckwith Weidman syndrome is over-growth syndrome with

visceromegaly and other features enumerated above. Most of the
cases are sporadic and a few are familial. Over five distinct
errors involving 11p15.5 have been identified in different BWS
patients. Since visceral malignancies like Wilms,
hepatoblastoma, Pancreatoblastoma occur more commonly than
other children and constant vigil is necessary It is advised an
abdominal ultrasound every 3 months until at least eight years of
age is recommended and a blood test to measure alpha-
fetoprotein (AFP) every 6 weeks until at least four years of age.

The cause of macroglossia in Beckwith-Wiedemann syndrome is

not known. . In the case of mild macroglossia, conservative
treatment is preferred. Accepted indications for surgical
intervention include airway obstruction, feeding difficulty,
language delay, dental deformities, and cosmetic concern

216
Vascular Malformations

Vascular malformations of the tongue may produce generalized

or localized enlargement of the tongue. It may be part of vascular
malformation involving the cheek, lips, and oral cavity.

A girl of five years was seen with extensive vascular

malformation of the left cheek, lip, and tongue on the left side.
(Fig 8) It was not pulsatile and was slowly filling on pressure
release. The external skin on the face was normal. She was put
on propranolol but there was no improvement. She was started
on interferon-alpha 2 drug and showed some improvement but
could not continue the treatment due to its cost.

Fig 8. Extensive vascular malformation of the cheek ,lip and tongue.

An 8-year-old boy was seen with enlargement of the distal third

of the tongue. (Fig9). There was a central area of blue coloration
which was compressible with a slow refill. He was treated with
Sodium tetradecyl sulphate local injection

217
 Fig 9. Vascular malformation of the distal third of tongue.

Haemangiomas tongue is challenging if the vascular

malformation is involving both segments of the tongue. Total
excision is difficult and chances of recurrence from the residual
segment are high. Many modalities of management are available
like surgery, corticosteroids, propranolol sclerosing agents,
radiation therapy, diathermy, electrocauterization, cryosurgery,
laser, embolization, radiofrequency, and interferons. The
therapeutic approach depends on the extent of location and the
patient-specific related clinical symptoms. Overall, it needs
teamwork with the radiologists.

Conclusion

Macroglossia occurs due to varied causes. Some may be

observed if it is asymptomatic and cosmetically acceptable as in
some cases of Beckwith Weidman syndrome. Surgical resection
gives good results in localized lesions like muscular
hypertrophy. Macroglossia due to lymphatic and vascular
Malformations is challenging and several medical and surgical
modalities of management are available.

218
9. Congenital Epulis in three children
and Ameloblastoma in a girl
Three newborn children with cystic lower jaw swellings were
seen. In one it was a large cystic swellings arising from the
lower jaw (Fig 1A). the other two were smaller swellings. (Fig 1
B&C)

Fig 1. A. Large cystic epulis two in number. Fig 1B&C Cystic epulis from the
lower jaw.

Congenital epulis (CE) is a rare tumor of the newborn, Three

cases of congenital epulis is presented here all arising from the
lower jaw. Literature says that the epulis is common in the upper
jaw. They are also known as granular cell tumors or congenital
gingival granular cell tumors because of their histologic features.
Neumann first described CE in 1871.

Epulis is seen only in the newborn. Microscopically, it is often

composed of large sheets or ribbons of polygonal or rounded
cells with a small, dark basophilic nucleus and eosinophilic
granular cytoplasm. Congenital epulis is a proliferation of cells
most frequently occurring on the alveolar ridge of the maxilla at
birth. Less frequently the mass may arise from the mandibular
alveolus. Treatment involves surgical excision of the lesion The
affected teeth may also need to be extracted.

219
Ameloblastoma of the lower jaw in a girl child.

A ten-year-old girl presented with swelling in the right side of

the lower jaw of one-year duration. The swelling was slowly
growing distorting the teeth in the right half of the mandible.
Clinically it was a large swelling expanding both the tables of
the mandible with distortion of teeth from the angle of the
mandible to the symphysis menti. The X-ray of the skull showed
that it was a multicystic tumour expanding both the tables of
right half of the mandible with distortion of teeth. Fig 2.

A. Large tumor arising from right half of the mandible involving inner & outer
table with distorted teeth B. X Ray of the mandible. Multiple large cystic areas
expanding the right half of lower jaw with distorted teeth & multiple septations

The girl had right hemi mandibulectomy and made good

recovery

220
Histologically it was ameloblastoma which used to be called
erroneously adamantinoma. Ameloblastomas are rare epithelial
tumors that may arise from the cells of the dental lamina,
epithelium of dental cysts, or possibly from the basal epithelium
of the oral mucosa. Although rather elaborate classifications
have been devised, most cases show one of two major patterns:
(1) a follicular type in which the tumor elements form masses
resembling enamel organs and (2) a plexiform type consisting of
large, branching masses of stellate epithelial cells. The average
age at the time of discovery is 32 years. Eighty-one percent of
these tumors are found in the mandible, with the molar-ramus
area the most frequent site of involvement.

In children, the average age of occurrence is 15 years. It may be

unicystic or multicystic. Owing to a high recurrence rate in
ameloblastoma, solid types of tumors should be approached with
radical surgical treatment, while conservative measures can be
applied selectively to unicystic types. Unicystic being more
common in western compared to African children. Simple
enucleation of the unicystic lesions showed high recurrence rates
and hence the need for long-term follow-up in simple
enucleation of the cyst.

221
10. Vaginal cysts in children
Vaginal cysts are rare in children Cysts may be arising from
embryological remnanats or blockade of mucus glands opening
into vagina may give rise to cysts. Cysts arising frm para urethral
area and urethral cysts may protrude into vagina.. Here in we
present a few cases of vaginal cyst in children.

Case 1.

A two months old girl child was seen with swelling inside the
vagina from birth. It was whitish, attached to posterior vaginal
wall. Abdomen was normal. The cyst was excised and contained
mucoid material. A diagnosis of cyst arising from Mullerian
duct system was made.

Fig 1. Cyst in the vagina attached to posterior vaginal wall.

Mullerian duct system vaginal cysts are common in the proximal

four-fifths of the vagina and lined by columnar endocervical-like
or cuboidal epithelium. The cyst above had all the above
features. Other cysts like Bartholin cysts which originate at the
entrance of the vagina and inclusion cysts which are present after
delivery due to injuries or sutures are common in women and not
222
children. Gartner’s duct cysts: derived from persistent
mesonephric duct (Gartner’s) ducts are lined with cuboidal or
low columnar epithelium and do not secrete mucus. These ducts
are present in embryonic life and disappear in the postnatal
period and persistence results in cysts.

Case 2.

A new born was seen with a swelling on the under surface of the
urethral orifice It was translucent with fine blood vessels
coursing over the cyst wall. It was superior to the anterior
vaginal wall. It was a paraurethral cyst. Surgically the cyst could
be removed completely.

Fig 2. Newborn with paraurethral cyst (obstructed Skene’s duct)

Paraurethral duct cysts are retention cysts that form secondary to

inflammatory obstruction of the paraurethral (Skene) ducts in
females. The Skene's glands consist of two small ducts located
along both sides of the urethra, in the front part of the vaginal
wall. They secrete mucoid fluid during sexual act as a lubricant.

223
Blockade of the ducts due to inflammation may result in para
urethral cysts. The treatment is excision or marsupialisation.

Case 3.

A newborn was seen with a cystic swelling in the vaginal area.

The vaginal opening was not seen. The child also had Anorectal
anomaly with vestibular anus. (Fig 3)

Fig 3. Cystic Imperforate hymen with vestibular anus.

Imperforate hymen in new-born may present as a cystic swelling

in the vulval area. The absence of vaginal orifice in the vulval
outlet and suprapubic swelling due to hydrocolpos will suggest
the diagnosis which can be confirmed with an ultrasonogram.
The treatment is to incise the cyst wall to drain the opalescent
accumulated fluid.

Case 4

A one-month-old girl child presented with a cystic swelling in

the vagina. it was bluish in colour attached to the right lateral
wall of the vagina. The urethral and vaginal orifices were
normal. Ultrasound abdomen showed a duplex system of the
right kidney with a small hypoplastic segment in the upper

224
moiety. A diagnosis of ectopic ureterocoele in the vagina was
made.

The cyst was aspirated and contrast injected which showed that it
was ureterocoele communicating with the ureter, Further
investigations confirmed that the cystic structure in the vaginal
wall was the cystic dilatation of distal right ectopic ureter from
the upper moiety of the duplex right kidney which was dysplastic

Fig 4. Ectopic ureterocoele presenting in vagina

Ureteral duplication is present in about 75% of patients with

ureterocoele. Ureterocoeles are most commonly found in
association with complete ureteral duplication. In this case, the
upper dysplastic segment with the ureter as far down as possible
was removed and the ureterocoele in the vaginal wall was
deroofed. Ureterocoeles presenting in the vagina as a cyst is very
rare.

Ectopic ureters opening in the vagina producing urinary

incontinence is well known. It may be from a single kidney or
maybe from a duplex system. The following picture shows the
single system ureter opening ectopically into vagina.

225
 Fig 5. Ureter opening into vagina from single kidney system.

The above two cases show the ectopic ureter opening into the
vagina producing dribbling of urine.

Conclusion

Cysts in the vagina are rare. Herein we have presented Mullerian

duct remnant cyst, paraurethral cyst, Imperforate hymen with
bulging hymen producing a cystic appearance and ectopic
ureterocoele. Other vaginal cysts like Bartholin cysts, Gartner
duct cyst and inclusion cysts are seen more often in adult
women.

……………………………………………………………………

226
11. Chapter Necrotising enterocolitis
with perforation of bowel with multiple
sub serosal air pockets in bowel--a rare
sight on the operation table.
A thirty four weeks premature child was admitted with
abdominal distension, bleeding per rectum, erythema of
abdominal wall. Plain Xray of abdomen revealed gas under
diaphragm. A clinical diagnosis of necrotising enterocolitis
(NEC) was made. Laparotomy revealed multiple areas of
necrosis of bowel classical of NEC. In number of areas gas
bubbles under the serosa was seen with one perforation of bowel.

Fig 1A gas under diaphragm . B. Subserosal air. C Area of perforation with air
bubbles under the serosa. D. NEC with air pockets in the bowel wall

The necrosed bowel wall with perforation was resected and end
to side anastomosis with ileal blow out was done. The subserosal
air pockets were over sewn. Fig 2.

Fig 2. Necrosed bowel resected; Bishop Koop anastomosis with ileal blow out
227
Three days later the child reperforated with pneumoperitoneum.
The drain which was already there was readjusted to drain the air
and fluid. The child was on nutritional support and was observed
conservatively. It recovered completely (Fig 3) . Three months
later the ileal blow out was closed.

Fig 3. Child had reperforation of bowel showing air under diaphragm. Treated
conservatively and the child recovered completely.

Conclusion

Though NEC is common, it is extremely unusual to observe the

subserosal air pockets of the bowel in multiple areas during
surgery and hence presented here because of its rarity. The child
survived two episodes of bowel perforation and major surgery.
and recovered completely.

228
12. Exomphalos major with ventral
hernia: Review after 34 years
A newborn child with exomphalos was seen in 1984. Primary
repair was not attempted since the capacity of the abdomen was
small. The skin was mobilised and covered over the omphalocele
without opening the sac. (Fig 1) .The child made good recovery.
Child was discharged and advised to come for ventral hernia
repair after one year.

Fig 1. Exomphalos skin cover given without opening the sac.

The child came for review after three years. He had ventral
hernia and was advised surgery, but the parents were not wiling
for surgery at that moment and went home.

Fig 2 At three years of age with ventral hernia.

229
He presented again at 34 years with ventral hernia, asymptomatic
married and has a child. He came for management of recent
onset of diabetes. Clinically the swelling was firm , and the skin
was tethered to the underlying structure which was the liver. He
had no symptoms related to ventral hernia.

Fig 3: At thirty four years asymptomatic with ventral hernia

An MRI showed that the contents of hernial sac was liver

displaced downwards and forwards occupying significant portion
ventral hernia and the abdominal cavity.

Fig 4. MRI:liver has herniated outside with tethering of the covering skin.

230
He was not keen on any interference since he was asymptomatic,
and lived with it for 34 years. He was advised to take adequate
care to prevent any trauma in the region.

Exomphalos major in earlier years,( early seventies ) in the

absence of availability of Silo. were treated conservatively with
1 % tincture mercurochrome. It was given up later due to fear of
mercury toxicity . But it had given good result, Fig 5.

Fig 5. Exomphalos major treated with 1 % Tincture mercurochrome, resulting

in ventral hernia which was repaired using prolene mesh. Follow up at 10
years.

70 % ethyl alcohol, or betadine application were used later to

produce similar result with progressive reduction of intestinal
contents resulting in ventral hernia. These were addressed later
by repair of ventral hernia.

231
Fig 6. Exomphalos major conservatively treated with 70 % ethyl alcohol and
the resultant ventral hernia repaired with prolene mesh. The mesh repair was
stable at 20 years.

Conclusion

An exomphalos major treated conservatively resulting in ventral

hernia was reviewed after 34 years. The liver formed the major
portion of the ventral hernia but he was asymptomatic and did
not want any further interference. He was advised to take great
care to avoid trauma to the ventral hernia area since major
portion of the hernia is occupied by liver. Advise regarding care
of ventral hernia with the liver was given with care to avoid
trauma to the herniated site.

232
13. Rare lesions
Case 1

Anorectal anomaly with multiple congenital anomalies

A newborn , one of the twins was brought to the hospital with

Anorectal malformation with absent anal canal, sacral agenesis,
prepenile scrotum with hypospadiac urethra , small penis The
right scrotum was developed and the left scrotum was
hypoplastic. Both the scrotal sacs were empty. The penis was
small , with hypospadiac urethra. The right kidney was absent
left gross hydronephrosis. The child had PDA and ASD.

Fig 1 A prpenile scrotum hypospadiac urethra small penis, gluteal fold not
seen. Fig 1C X Ray spine complete sacral agenesis.

The serum creatinine was 1.4 mg and the urine out put was very
small. The urethra was stenotic and guide wire passed and
catheter threaded over and 2 ml of urine drained. It was decided
to do colostomy for the ARM and nephrostomy of the left kidney
in view of gross hydronephrosis.

Laparotomy and left inguinal colostomy was done. The left

kidney was exposed by different incision. The kidney was small
but the cortex was good . The upper portion of the ureter was
dilated for about 2 cm merging with the pelvis. It was divided at
the pelvi ureteric junction. A end to side pyelo ureterostomy was
done below the dilated segment. The cut end of the distal pelvis
233
was brought out as a conduit for drainage of urine. This is
similar to what we do in Bishop Koop anastomosis for intestinal
obstructions

Fig 2. The Dilated pelvis and upper ureter was seen and pyelo uretrostomy was
done with a blow out ureterostomy.

The urine output increased and the stent was removed and the
child was passing urine . The child was discharged but lost for
follow up.

Case 2.

Complete duplication of external genitalia in a girl child an

extremely rare anomaly.

A one month old girl child was brought with history of genital
anomaly from birth, passing urine and motion in two pairs of
orifices. The child was otherwise asymptomatic

The external genitalia showed the labia was widely separated by

a thick skin bridge. There were two identical vulval openings
with separate clitoris. The vulva had urethra and vagina on either
side. The child also had two anal openings through which the
child was passing motion . The urinary stream was normal on
both sides . The ultra sound showed two independent urinary
bladders drained by individual kidneys and hemiuteri drained by
individual vagina.

234
 Fig 1. Complete duplication of vagina urethra and rectum. A diagrammatic
representation of what would be the appearance internally.

The child was asymptomatic. We were clueless as to how to

approach the child with the above anomaly and hence the parents
were asked to bring the child at one year of age or bring earlier if
it becomes symptomatic. The child was lost for follow up . It
was seen at 9 years in Salem by a paeditric surgeon who also
decided not to interfere since the child was asymptomatic.

Case 3.

Duplication of rectum with hypospadias and prepenile

scrotum.

A month old male child was brought for abnormality in external

genitalia. The child had proximal hypospadias with prepenile
scrotum and a fleshly mass protruding between the urethral
opening and anus. The fleshy mass had a blind ending lumen
and a mucoid surface. Fig 1

235
Fig 1. Severe hypospadias with prepenile scrotum & a fleshy mass above anus.

The abdomen and rest of the body did not show any other
anomaly. Surgery was done and the fleshy mass was extending
for about 2 cm above the surface and could be removed without
injury to the native rectum, anal canal, and urethra. The defect
was closed. Histologically it had classical features of colonic
mucosa confirming a duplication of rectum manifesting
externally.

Rectal duplications are rare congenital malformations. It can be

cystic or tubular duplications. It is due to defective canalization
of the solid-state of the primitive gut. Usually, it is inside the
perineal area and sometimes it can prolapse through the anus or
in the vulva in the female. It can ulcerate into the rectum, and
bleed due to ectopic gastric mucosa, or get infected. if the cystic
variety is large it can cause urinary problems, urinary tract
infection, and constipation.

Retro rectally situated cystic duplications have to be

differentiated from anterior meningocele, cystic type of
sacrococcygeal teratoma, dermoids.

236
The management is essentially surgical removal since it can
result in complications and late malignancy.

The approach for retro rectal cyst is posterior sagittal approach.

Cyst that extend into the abdomen will need abdomino perineal
approach. Anteriorly situated duplications can be removed
transanally or by the perineal route. The case is presented for its
rarity of presentation of rectal duplication in the perineum
externally as a fleshy mass along with proximal hypospadias
with prepenile scrotum.

Case 4.

Posterior cloaca in a girl.

Posterior cloaca is an extremely rare anomaly and is seen only in

centers with a high volume load of anorectal malformations.
Maximum number of cases and treatment guidelines have been
documented by Alberto Pena.

A five-year-old girl child was seen with external genital

malformation with a history of passing motion and urine through
the anus. Clinically the vulva was absent with no urethral or
vaginal openings. Rectal examination revealed a dimple above
the anal verge through which the child was passing urine and
indicated the place of common urogenital sinus opening into the
rectum. Fig 1.

237
 Fig.1 Posterior cloaca. Complete absence of external genitalia and the child
was passing urine and motion through the anus.

There was no evidence of hydrocolpos. The child underwent

preliminary colostomy prior to definitive surgery later but was
lost for follow-up.

Posterior cloaca refers to a malformation in which the urethra

and vagina are fused, forming a urogenital sinus that deviates
posteriorly to open in the anterior rectal wall or immediately
anterior to the anus. Associated malformations are common

The treatment is the transperineal or transanal mobilization of

the urogenital sinus. Most of those treated are continent for
motion and urine, though a few have dribbling and need clean
intermittent catheterization. Fecal incontinence also develops in
a few after the surgery. The problem is challenging and need
proper planning and execution.

Recommended reading
Alberto Peña 1, Andrea Bischoff :Posterior cloaca--further
experience and guidelines for the treatment of an unusual
anorectal malformation .jpedsurg.2010.02.095.
Case 5.

Ewing’s tumour of massive size in a boy and a girl.

Two children, a boy and a girl aged six and five years
respectively were seen with massive thigh swelling one in the
left and the other in the right during 1977 and 78.

238
 Fig. Ewing’s sarcoma of femur of giant size in a boy and a girl..

They were extending from the knee to hip and both the children
were marasmic . The X.Rays and biopsy were confirmatory of
the diagnosis of Ewing’s tumour. The only drug available at that
time was cyclophosphamide.

The ortho surgeons suggested hind quarter amputation in both

but the parents refused and took the children away.

Currently multimodal therapy with local irradiation and/or

surgical resection is the best mode of modern treatment.
Chemotherapy regimen using drugs like Vincristine,
doxorubicin, cyclophosphamide Ifosfamide, etoposide in
different combinations have been used.

Ewing’s Sarcoma is rare in children and still rarer to see such

giant size tumours in children.

Case 6

Idiopathic calcinosis cutis

A 5 year old boy was seen with history of swelling on the under
aspect of left jaw. It was like an abscess with signs of
inflammation. He gave a history of recurrent swelling in the
lower limbs discharging whitish chalky material. He was
investigated in few centres with serum calcium and phosphorus,
measurement of parathormone and Vit D levels. Ultrasound

239
examination of neck for parathyroids was normal. Malignancy at
other sites were excluded. A paediatric endocrinologist opinion
was obtained who thought it was idiopathic cutis calcinosis.

The abscess in the left lower jaw was incised and the chalky
material was removed (Fig 1 B). He also showed calcified skin
with subcutaneous collection in the legs (Fig 1A,C) . In the right
leg he showed speckled calcification in the skin. (Fig.1D) The
subcutaneous collection in the leg was drained and chalky
material was removed. (Fig 1E.F)

Fig 1. Multiple sites of subcutaneous calcinosis which on drainage found to

have chalky cheesy material.

Idiopathic calcinosis cutis occurs in the absence of known tissue

injury or systemic metabolic defect . Calcinosis cutis occurs
when calcium salts are deposited into the skin and subcutaneous
tissue. It is classified into five main types: dystrophic, metastatic,
idiopathic, iatrogenic, and calciphylaxis. Idiopathic calcification
240
occurs when there is deposition of calcium salts without
underlying tissue damage or abnormal calcium or phosphorus
levels. It usually occurs in one area. But in this boy it was
present in different areas though they were maximum in the legs.

The most common cause of calcinosis cutis is dystrophic

calcification and the serum calcium and phosphorus levels of the
body being normal. Metastatic calcification is associated with
abnormal serum calcium and phosphorus levels, and deposition
occurs when calcium phosphate production exceeds a certain
value. Calciphylaxis involves calcification of small and medium-
sized vessels and is associated with chronic renal failure and
dialysis. When it involves a joint or single extremity it is called,
calcinosis circumscripta and when it involves skin diffusely it is
called calcinosis universalis.

Management essentially is supportive and removal of skin

nodules. and drainage of abscess. Medications that have been
tried include corticosteroids, probenecid, Colchicine, Diltiazem,
sodium etidronate, Rituximab, diphosphonates and antacids of
aluminium and magnesium.

Case 7.

Sternal cleft with haemangioma of face.

A new born child with midline sternal cleft with midline scar
extending to xiphoid process was seen with haemangioma in the
face. Fig 1.

241
 Fig 1. Median sternal cleft with scar extending from xiphoid process to the
umbilicus with haemangioma of face a part of PHACES syndrome

Clinically the cleft in the sternum was palpable with thin

atrophic skin bridging the sternal cleft in the upper half of
sternum. The cardiac pulsations were felt through the defect.
Clinically there was no major associated anomaly except diffuse
haemangioma over the chin, left half of the whole face including
the forehead. Cardiac echo and other investigations were not
done since the parents took the child home.

Sternal malformation/vascular dysplasia association is a very

rare condition comprised of midline defects and haemangiomas
of the face and anterior trunk, that can be found as part of the
PHACES phenotypic spectrum consisting of posterior fossa
malformations, haemangiomas, arterial anomalies, coarctations
of the aorta, cardiac defects and eye abnormalities, sternal
clefting.

The general consensus about the timing of sternal cleft repair is

in the neonatal period using autologous tissue as the flexibility of
the thorax is maximum at this age leading to minimal
compression on the underlying structures. Several methods of
closure of the sternal defect have been practiced.
242
If the gap is small, freshening the edges and suturing the defect
with stainless steel wire is done. If the lower portion of the
sternum is joined, a bridge of sternum is removed and sternal
cleft is repaired, It may be facilitated by chondrotomies. Larger
defects are bridged by mesh and other synthetic material,
autologous myocutaneous flaps, posterior periosteal flap from
sternal bars and chondral graft etc. In patients with insufficient
sternal bone a fixation system using metallic plates is ideal. The
use of foreign material is always fraught with the danger of
infection.

Sternal cleft with haemangioma is a rare occurrence, carries a

good prognosis if there are no serious associated malformations.

Case 9

Granular cell tumour of the tongue

A girl child of ten years was seen with a swelling in the left
lateral aspect of the tongue of 6 months duration. It was slowly
growing and there was no pain or bleeding from the lesion.
clinically it was a firm nodule attached to the anterior two third
of the tongue on the lateral aspect of 1 cm in diameter. The
surface was smooth but it was elevated over the tongue surface.
Fig 1 A

243
 Fig.1. A submucosal tumour of the tongue on the lateral aspect.

The tongue mass was excised with normal margins.

Histologically it was reported as Granular cell tumour and there
was no evidence of malignancy.

Granular cell tumor (GCT) is an uncommon benign soft tissue

neoplasm, which usually presents as a solitary nodule, appearing
especially in the tongue, particularly in the anterior part of the
tongue. The recurrences are rare.

Granular cell tumors may occur everywhere in the body but do

have a preference for the tongue. Apparently, there is a slight
female predilection. The lesion most frequently occurs in the
fourth to sixth decades and is rare in children. The usual clinical
presentation is an otherwise asymptomatic solitary nodule on the
anterior part of the tongue, sometimes having a yellowish or
pinkish appearance; multiple, simultaneously occurring GCTs
are rare. At present, the lesion is believed to arise from Schwann
cells

Histopathologically, the lesion is rather well-circumscribed but

not truly encapsulated. The lesional cells are polygonal and show
numerous cytoplasmatic granules. The cytoplasm stains positive

244
immunohistochemically for S-100 protein. There is absence of
nuclear and cellular pleomorphism and mitotic activity is rarely
observed. A well known phenomenon in GCT is the presence of
pseudoepitheliomatous hyperplasia (PEH) of the overlying
epithelium. Such PEH may be misdiagnosed as a squamous cell
carcinoma in case of a small biopsy.

Although majority of granular cell tumours are benign, some are

clinically aggressive and malignancy has been reported.

Case 10

Labia minora hypertrophy in an adolescent girl.

A 14-year-old girl was seen with a progressive increase in the

size of labia minora. It has covered both the urethral and vaginal
orifice with the spraying of the urinary stream. Clinically the
hypertrophied labia minora was hanging like a curtain over the
introitus, dark and hypertrophied. The clitoris was normal. The
hypertrophied skin was covering the clitoris There was no
evidence of any abnormal hormonal imbalances.

Surgical correction was done excising the redundant skin leaving

a fringe of the skin tag of the labia minora. Aesthetically it was
acceptable to the child and the parents Fig 1.

Fig 1.Hypertrophy of labia minora covering the introitus. Labiaplasty done.

245
Labial hypertrophy may be congenital in nature and therefore
affect young women in adolescence, or it may develop later in
women in the postpartum period because of hormonal changes.
Girls become very self-conscious because of their appearance
during their high school or college years. May create unsightly
appearance while wearing tight-fitting garments as in swimsuit.

The management is essentially the excision of the redundant skin

and reconstruction of the labia. A few surgeons leave behind a
rim of the labia to look near normal. But the fear of further
increase in the size of the leftover labial skin has made us to
resect the major portion of labial hypertrophy. except for a fringe
of skin. Labial hypertrophy in adolescent girls is a known
anomaly but is uncommon.

Suggested reading

WarrenA Ellsworth, Mort Rizvi, Michael Lypka, Mark Gaon

bruce et al : Techniques for labia minora reduction: An
Algorithmic approach Aesth plat. surgery (2010). 34 :105-110

246
14. Classic ureteral valve producing
hydronephrosis in a solitary kidney.
A ten-year-old boy was seen with a history of right-sided
abdominal pain and swelling. Clinically it was a gross
hydronephrotic kidney. Intravenous pyelogram showed single
functioning right kidney with gross hydronephrosis. His renal
parameters were normal. He was seen in the early eighties when
Nuclear scan and ultrasound scan were not available,

Exploration revealed gross hydronephrosis of the kidney due to

obstruction in the ureter 3cm from the ureteropelvic junction. A
diagnosis of ureteric stenosis was made. The redundant pelvis
and the dilated ureteric segment were removed and pyelo
ureterostomy with a removable stent across the anastomosis and
a protective nephrostomy was done.

The dilated ureteric specimen when opened showed a classical

valve in the ureter like what we see in the posterior urethral
valve. Histologically it was lined by urothelium and there was no
evidence of dense fibrosis seen in ureteric stenosis.

Fig 1A.Resected specimen of the dilated, redundant pelvis and upper of the
ureter. Fig 1B Opened out ureter showing the valves folded upwards. Fig 1c
the classic valves in the ureter

The boy slowly developed chronic renal failure and died

subsequently.

247
Ureteral valves are rare causes of ureteric obstruction in children
though they are well documented. When there is proximal
dilatation of ureter with distal narrowing more often a diagnosis
of ureteric stenosis is made and the involved segment is resected.
Strictures are histologically different from valves. In strictures,
there is concentric contracture of the segment of the ureter with
fibrosis involving all the coats of the ureter, Whereas in valves
the muscular coat is intact with mucosal folds acting as valves. It
is considered as defective recanalization of the ureter during the
embryonic stage.

True ureteral valves have to be differentiated from fetal ureteral

folds which disappear with growth.

The following picture is that of the child with fetal ureteral folds
with hydronephrosis Fig 2. The involved segment was resected
and pyelo ureterostomy was done because of dilatation of pelvis
involving calyces

Fig 2. Fetal ureteral folds with hydronephrosis of the kidney with calyceal
dilatation.

Another child with suspected hydronephrosis due to upper

ureteric obstruction, on RGP, showed the free flow of dye up in
the ureter but showed a kink in the upper ureter resembling a
fetal fold. The child was observed.

248
 Fig 3. Foetal fold of the ureter with mild hydronephrosis.

In the management of ureteric valves the involved segment is

resected and continuity is established by ipsilateral
ureteroureterostomy, ureteropyelostomy . Currently, the valves
have been dealt with by endourological procedures.

Ureteric valves are rare causes of ureteric obstruction which has

to be differentiated from ureteric stenosis and fetal folds. One
can demonstrate the ureteric valves in the resected specimen if
the involved segment is carefully opened and studied.

The above case is a classic illustration of ureteral valves which is

rarely seen by the operating surgeon.

249
15. Spontaneous rupture of biceps
femoris tendon in a girl child.
Rupture of the Biceps femoris tendon and hamstring group of
muscles is common in adults involved in athletic and sports
activity. A spontaneous rupture of the biceps in a nonathletic girl
of 8 years is rare.

An eight old girl child felt sudden severe pain in the back of the
left thigh and started limping while walking. Clinically she had
a swelling in the posterior aspect of the left thigh and it was
tender. Flexion of the knee increased the size of the swelling. An
ultrasound examination of the swelling confirmed it to be a
rupture of the biceps femoris tendon. She was seen by the ortho
surgeon and physiotherapist who suggested conservative
management. She was on bed rest, analgesics and graduated
exercise under physio care and improved without surgical
treatment Fig 1.

Fig 1. Swelling posterior aspect of thigh due to rupture of Biceps femoris.

250
Discussion:

The biceps femoris muscle is on the lateral side of the posterior

aspect of thigh. It along with semimembranosus and
semitendinosus muscles, both of which are on the medial aspect
of the posterior thigh, to become the hamstring complex. The
long head arises from the lower and inner impression on the
posterior part of the tuberosity of the ischium, The short head,
arises from the lateral lip of the linea aspera The two heads
condenses to form a tendon which predominantly inserts onto the
lateral side of the head of the fibula. There is a second small
insertional attachment by a small tendon slip into the lateral
condyle of the tibia.

Fig 2. Origin and insertion of biceps femoris

The biceps femoris tendon rupture usually develops following

sudden knee hyperextension with concomitant hip flexion which
can be encountered in running athletes. Hamstring injuries are
common in sports such as soccer, football, and track, Jogging,

251
skiing Often occurs in sprinting or sports involving rapid
acceleration and is usually injured during the sudden take-off
phase of running.

Injuries to the hamstring group of muscles can range from a

minor strain to a major rupture. A minor strain is classified as a
grade I tear, Grade II tears are partial ruptures, whereas a
complete rupture, or tear, is classified as a grade III tear. Grade
III teras occur more often in major athletic events.

Treatment initially includes rest, ice, non-steroid anti-

inflammatory drugs, gentle stretching, and therapeutic exercise
for 4 to 6 weeks. The ruptured tendon gradually heals, allowing
the affected knee to return to full strength. Additional abdominal,
hip, and quadriceps stretching and strengthening will help
prevent reinjury. Hamstring strengthening aims at balancing
hamstring-quadriceps power.

Platelet Rich Plasma injected at the site of the injury hastens

healing of the tendon injury. The ultrasound-guided injection is
recommended within 48 hours of the acute injury. Platelet-rich
plasma accelerates recovery and promotes muscle regeneration,
without fibrosis, in the healing process.

Surgery is recommended in avulsion of the tendon proximally

off the ischial tuberosity. Surgery is indicated in partial tears
with persistent symptoms after 6 months of nonoperative
management and concomitant hamstring tendon tear
(semitendinosus or semimembranosus) especially with more than
2 cm retraction in young and active patients.

Hamstring injury though common especially in adults, involved

in sports activity it is very unusual in a non-athletic child.

252
16. Aspergillosis infection in the kidney
of a newborn child.
A three-week-old infant was ventilated for one week for birth
asphyxia. It developed fever and based on the blood culture
report various combinations of antibiotics were used. The fever
did not subside. The urine culture grew Aspergillosis. An
ultrasound abdomen showed fungal balls in the right kidney. Fig
1. A nephrostomy was done and irrigations with amphotericin B
was given to wash out the fungal balls. Systemic administration
of the drug was also given. The child ultimately needed a
nephrectomy since the kidney became functionless. The child
survived with a single kidney and the cultures became negative.

Fig 1 .Ultrasound of the kidney showing the fungal balls in the calyces.

Fungal infections of the kidney occur more often in adults with

an immunocompromised state with diabetes, HIV infections, and
drug abusers. Aspergillosis is rare in neonates. It poses a major
threat due to high morbidity and mortality rates with ineffective
or untested antifungal therapies in this population. Disseminated
invasive aspergillosis is associated with prolonged antibiotic and
corticosteroid use. The organism may disseminate from the

253
bloodstream to deeper organs, including invasion of tissues such
as the lungs, muscles, ribs, pericardium, or pleurae, and kidneys.
Anuria due to bilateral ureteral obstruction with mycelial can
happen. 1,2

Ultrasound or CT scan of the kidneys demonstrate

hydronephrosis with filling defects in the renal pelvis.
Retrograde pyelography shows the fungal bezoars clearly and
may be useful in placing a ureteral catheter in the renal pelvis for
treatment to give irrigation with antifungal drugs.

Using PCR, Aspergillus DNA detected in serum can diagnose

invasive aspergillosis at an early stage

A combined medical and surgical approach is required for

kidney involvement with bezoars. In this neonate, the bezoars
were washed out with amphotericin drug via nephrostomy, and
systemic amphotericin B was given. However, the kidney
became functionless and had to be removed.

There has been a major effort to develop new antifungal agents

with activity against Aspergillus species. The options available
today include lipid preparations of amphotericin B. These
preparations allow higher doses of amphotericin B to be
delivered and are associated with less renal toxicity. Flucytosine
coadministration is desirable because it is excreted in large
amounts in the urine and there is a synergistic effect combined
with amphotericin. However, flucytosine has only moderate
activity against Aspergillus, in contrast to better activity against
Candida species

New antifungal agents with efficacy against Aspergillus species

have become available recently. These include the echinocandin
lipopeptide caspofungin and the triazole voriconazole. These
agents show promise in the treatment of aspergillosis refractory

254
to conventional therapy; however, there are no data on the use of
these agents in the neonate.

Conclusion

A constant vigil is needed to identify fungal infections in

neonates and children who are on prolonged antibiotics, and
steroids, and immune-compromised. Systemic involvement by
aspergillosis carries a poor prognosis. Aggressive treatment with
appropriate antifungal agents is necessary to prevent systemic
involvement if picked up in the initial stages.

References

1.J D Martinez-Pajares 1, M C Martinez-Ferriz 1, Management of

obstructive renal failure caused by bilateral renal aspergilloma in
an immunocompetent newborn. J Med Microbiol 2010
Mar;59(Pt 3):367-369.

2. Nawaporn Kittaweerat, Worapat Attawettayanon . Bilateral

renal fungal bezoars in a preterm infant: case report and
literature review Journal of Surgical Case Reports, Volume
2021, Issue 10, October 2021.

255
17. Necrotising fasciitis in newborn and
older children
Necrotizing fasciitis (NF) is a rapidly progressing necrotizing
infection of the subcutaneous tissue and superficial fascia with
secondary necrosis of overlying skin. Herein we present four
cases of severe necrotizing fasciitis,

Case 1.

A ten-day-old newborn male child was referred as a

staphylococcal scalded syndrome. The child was febrile with
redness of the scrotum, lower abdomen perianal region. (Fig 1A)
The Lab investigations were suggestive of septicaemia with
streptococcal infection and the child was on broad-spectrum
antibiotic, the third generation of cephalosporin, and
aminoglycoside. Within a week there was extensive necrosis of
the skin over the anterior perineal region and was extending over
the abdominal wall.(Fig1B) Extensive wound debridement was
done and the dead skin over the infra umbilical region scrotum,
penis, and upper aspect of both thighs was removed. (Fig 1C)
The child was planned to have skin grafting after the sepsis is
controlled but died due to overwhelming infection.

Fig 1A.Redness over the scrotum, lower abdomen, thigh, and perineum. 1B.
Necrosis of the perineal skin. 1C. Wound after debridement of dead tissue.

256
Case 2.

A 15 days old sick looking neonate was admitted with signs of

sepsis with discoloration of the chest wall skin extending to the
neck. (Fig 2A). The child was on third generation of
cephalosporin and Amikacin. Within a week the skin over the
chest wall and neck sloughed off leaving a large raw area(Fig
2B). Wound debridement was done. The child started recovering
from the infection and further spread was not present. The
wound granulated and started shrinking in size over a period of
month. The wound was later closed by mobilizing the chest wall
and neck skin flaps. Fig2.C

Fig 2 A. Sick-looking neonate with discolored skin over the chest wall
extending to the neck. 2B. Sloughed skin and subcutaneous tissue over the
above area. Fig 2C. Reconstruction at 2 months of age.

Case 3.

A two-month-old child was seen in the hospital with a history of

darkening of skin over the gluteal and perianal region (Fig 3A, B
&D). Clinically it was gangrenous skin. There was mixed growth
of organisms both gram-positive and gram-negative. The child
had protein C deficiency. There was no immnuno deficiency.
The child was on broad-spectrum antibiotics and was taken up
for wound debridement. The perianal dead skin and
subcutaneous tissues were resected and the scalp skin was
excised exposing the skull bone which looked unhealthy. (Fig
3C&E). The wounds were dressed. Within three weeks the skull

257
bone got sequestrated and came off exposing the dura, (Fig 3 F).
In the next week, the dura also sloughed off exposing the brain.
(Fig 3G) The child died subsequently due to a brain infection..

Fig 3A,B&D Gangrene of the perianal and scalp. Fig C&E Wound after
debridement. Fig3F Sequestrated skull bone. Fig 3F. Exposed brain.

Case 4.

A ten-year-old boy was admitted swelling of the whole of the

right lower limb with fever and severe pain. The thigh and the
right leg were swollen, tense and there was an area of
gangrenous skin in the upper third of the right thigh. (Fig 4A).
The boy was put on a broad spectrum of antibiotics and wound
debridement was done The discoloured skin over the right upper
thigh was excised with subcutaneous tissue exposing the thigh
muscles. A long incision was made on the lateral aspect of the
thigh to release the tension of compartment syndrome due to the
edema (Fig 4B Similar incision was made on the lateral aspect of
the leg to prevent compartment syndrome due to inflammatory
edema (Fig 4C). The boy made recovery. The long incisions on
the thigh and leg healed and the raw area over the thigh needed
a skin graft.

258
 Fig 4. Necrotising fasciitis with compartment syndrome of the thigh and leg.
Necrosed skin was excised and decompression incisions were made over the
thigh and leg.

Necrotizing fasciitis is a highly lethal soft tissue infection rarely

seen in childhood. Herein we have presented four cases. Two
were in the neonatal period and one at two months and one at 10
years of age. Two died due to fulminant and progressive spread
of infection inspite of appropriate antibiotics. The first two cases
had Strepto Staph aureus infection respectively and the other
two were mixed infections.

It is a rapidly spreading disease The initial skin presentations

were induration or cellulitis and erythema and edema with
progression to skin discoloration and bullae formation. Fever and
tachycardia were the most common clinical features.

The mortality and morbidity associated with NF in children can

be decreased with clinical awareness, early diagnosis, and
adequate and urgent surgical debridement followed by intensive
supportive care and early wound resurfacing.

259
18. Scrotalisation of the undescended
testis.
In surgery for undescended testis (UDT), high inguinal or after
stage 1 Fowler Stephen procedure, there are situations where the
UDT even after adequate mobilization either retroperitoneally or
by laparoscopically reaches only up to the root of the scrotum in
spite of extensive dissection upwards and bringing it medial to
the testicular vessel. The testis reaches either at pubic tubercle
level or at the supra scrotal level. (Fig 1)

Fig 1. Testis just below the pubic tubercle after extensive mobilisation.

In these situations, if the testis is left alone in the high-up

position the spermatogenesis will be affected. The redo
procedure later is fraught with the danger of testicular atrophy.
A technique has been evolved whereby the scrotal skin of the
empty scrotum is mobilized and covered over the testis in the
supra scrotal position. The skin and subcutaneous tissue at the
place where the testis emerges are excised making a circular
defect so that the testis is covered directly by the scrotal skin
without the intervening subcutaneous pad of fat. (Fig2)

260
 Fig 2A. The red area indicates the site at which the skin and subcutaneous fat
is removed .2.B. The scrotal skin of the empty scrotum mobilized and sutured
over the defect covering the testis.

Fig 3. Area of the skin to be excised.

The ultimate appearance will be an elevated scrotum on the

affected side . (Fig 3)

Fig3. Immediate post-operative picture of scrotal mobilization for supra scrotal

testis.

261
Follow-up shows the testis settles down well inside the scrotal
pouch high and lateral in scrotum.

Fig 4.A&B .The testis is well inside the scrotal pouch

Follow-up several years later shows that the growth of the testis
in the scrotal pouch is appropriate for the age, The longest
follow-up in a sixteen-year-old boy who showed that the testes
are well developed though they were situated in the higher
positions. Fig 5

Fig 5. Sixteen-year follow-up shows that both the testis after scrotal
mobilization done at one year for bilateral UDT are normal in size and
development though they are slightly high up.

The above procedure is acceptable to the parents and to the child.

Three out of the ten children had bilateral scrotal flaps.
Spermatogenesis has not been tested. Sexual activity will not be
impaired since the testis is up and lateral and does not reach the
pre penile area,

262
Conclusion.

A new method of scrotal mobilization for UDT which would

reach only up to the supra scrotal position is described. Final
position, development and acceptance are normal though the
spermatogenesis has not been evaluated yet.

263
19. A pictorial representation of vascular
anomalies
Dr.V.R. Ravikumar & Dr. Pavai

Vascular anomalies are most often benign, but can cause

morbidity and mortality depending on the site of the lesions, the
type, and response to treatment. Since the lesions typically
involve the integument, the most common problem they cause is
disfigurement/psychosocial morbidity.

Local complications consist of bleeding, destruction of anatomic

structures, infection, obstruction, pain, thrombosis, and
ulceration. Systemic morbidity can include congestive heart
failure, disseminated intravascular coagulation (DIC), pulmonary
embolism, thrombocytopenia, and sepsis.

Many types of vascular anomalies are progressive, recur

following treatment, and are challenges in management. The
following is the accepted classification of the vascular anomalies

Fig 1. Classification of vascular anomalies

264
Histologically haemangiomas and vascular malformations can be
differentiated by the presence of nerve bundles in the vascular
malformation which is absent in haemangiomas. The presence of
vascular spaces with arterialisation of vessel walls due to high
flow will indicate the vascular malformation. Fig 2.

Fig 2A. Classical haemangioma and Fig 2B. Vascular malformation.

Haemangiomas are further divided into infantile haemangioma,

congenital haemangioma, and haemangioma endothelioma
where the haemangiomatous lesion infiltrates into muscles and
deeper structures.

Infantile hemangiomas (IHs) are the most common benign

tumors of infancy. They typically appear after birth and undergo
a period of rapid growth, followed by a gradual period of
involution. They are GLUT1 staining positive in most cases. The
typical hemangioma will begin to involute approximately 10
months after birth and 50% of lesions are completely resolved in
5 years

Congenital hemangiomas are fully grown when the baby is born,

but they do not grow after birth. Congenital hemangiomas are
usually divided into two groups: rapidly involuting congenital
hemangioma (RICH) and non-involuting congenital
hemangioma (NICH). Congenital haemangiomas are GLUT I
negative.

265
Haemangiomas may be associated with Kasabach–Merritt
syndrome where there is platelet deficiency and usually presents
with haemangio endothelioma.

Vascular malformations.

Vascular malformations are always present at birth and enlarge

in proportion to the growth of the child. They do not involute
and remain present throughout the patient’s life Vascular
malformations are subcategorized as lymphatic, capillary,
venous, arteriovenous, and mixed malformations on the basis of
their histologic makeup. Many patients with vascular
malformations have been misinformed that their lesions are
hemangiomas and will eventually resolve.

Malformations with arterial components are considered high-

flow lesions and those without arterial components are
considered low-flow lesions

Low-flow vascular malformations include primarily venous,

lymphatic, and mixed malformations. Venous malformations are
dysplasias of small and large venous channels associated with a
variable amount of hamartomatous stroma The venous channels
connect with adjacent veins

Sonography using doppler may be helpful in differentiating a

high flow from low flow lesions. MR images will be more
informative.

Any lesion that has arterial components is considered a high-

flow malformation. The lesions may appear blue and may feel
warm with pulsations and thrill because of the increased blood
flow. Lesions tend to grow with the child but can enlarge rapidly
as a result of thrombosis, infection, or hormonal stimulation.

Hemangiomas can be associated with a number of abnormalities.

One cluster of abnormalities has been referred to as the PHACE
266
syndrome: posterior fossa abnormalities, facial hemangiomas,
arterial abnormalities, cardiovascular defects, and eye
abnormalities. Blue rubber bleb nevus syndrome, Sturge weber
syndrome, Maffucci’s syndrome refers to venous malformations
and multiple enchondromatosis Management.

Management of vascular anomalies is complex needing a team

approach with interventional radiologists, dermatologists.

.Most hemangiomas require no therapy. Even many large lesions

are treated conservatively because of the characteristic pattern of
involution.

1. A{ Haemangioma of the right side of the face and neck showing spontaneous
reolution.

Most of the lesions in the face and neck have regressed by two
years. Though the distribution of the haemangioma is in a
trigeminal area like Sturge weber syndrome, it did not have other
features of the syndrome. There were no cerebral or ocular
defects in the child and no history of seizures.

Fig 1B. Spontaneous regression of large parotid haemangioma

267
 Fig 2. Spontaneous regression of left parotid haemangioma, residual lesion
treated with bleomycin.

Fig 3 Spontaneous regression of nasal haemangioma, residual nasal lesion

surgically removed.

Regression following continued compression

Fig 3. Peripheral haemangiomas respond well to compression with

Elastocrepe bandage.

Fig 4. Large abdominal wall haemangioma that responded well with

compression bandage.

268
Haemangiomas treated with steroids and propranolol

Fig 5. Large haemangioma covering the right Eye. Initially treated with steroid
and after partial regression left alone for spontaneous resolution.

Fig 6. Rapidly spreading haemangioma of the face close to the eye responded
well to Propranolol with residual pigmentation in the face.

Fig 7. The child seen in 1980 with fast-spreading haemangioma did not
respond to steroids and had 200 rads radiation and it completely healed and

269
the last picture that you see is when the boy was 15 years of age. He was
offered plastic reconstruction of the scar but did not turn up.

Facial haemangiomas

Fig 8. Most of the facial haemangiomas regress given adequate time.

There are centers where intralesional triamcinolone, Bleomycin,

sodium tetradecyl sulphate are given as sclerosing agents. Great
care has to be taken since retinal artery thrombosis has been
reported as an adverse effect of sclerosing agents, especially in
the periorbital region.

Peri orbital haemangiomas obstructing the vision in

Newborn.

Fig 9. Periorbital haemangiomas covering the whole eye need emergency

measures to prevent amblyopia. Fig 9A. The lesion was surgically removed
since it was attached to the upper eyelid and Fig 9B. the child had steroids to
reduce the size of haemangioma so that the child can open the eyes.

270
Haemangiomas which needed surgical excision

Fig 10 A, B, C, Neck haemangiomas which produced pain while lying down

were removed. Fig D is a large neck haemangioma, E, Umbilical
haemangioma. F. Pedunculated haemangioma in the neck G. Pedunculated
haemangioma in the thigh H Shoulder I lower Lip J.Scalp. All these lesions
were removed since they are painful, large, and liable to get injured with
bleeding.

Kaposi’s haemangio endothelioma. (KHE)

Case 1.

New born tense infiltrating vascular lesion with thickening of

skin in Right parotid area and low platelet count was see,
Classical of Kaposis haemangio endothelioma with Kasabach
Merrit syndrome. with low platelet count. Treated with steroids
and the lesion completely regressed by one year.

Fig 11. Tense KHE in the parotid region resolved completely with steroids.

271
Case 2.

A newborn was brought with large hemangiomatous lesion on

the right arm situated over the deltoid tense and shiny. The
platelet count was 4000/cmm and MRI showed infiltrating lesion
on to the deltoid Fig 12.

Fig 12 Large KHE on the right shoulder, extending to right arm. MRI shows
infiltration into deeper structures. (courtesy IJPS)

The child had FFP, Platelet transfusion, and steroids. The platelet
count progressively increased and by 45 days it was one lakh and
forty-five thousand and by four months it was 3 lakhs. The lesion
also regressed completely by 4 months. Fig 13,

Fig 13 Progressive reduction in the size of the lesion and complete regression
in 4 months of time.

Case 3.

A Newborn was seen with a large vascular malformation on the

left lateral aspect of the chest wall. The platelet count was

272
59000. Started on prednisolone but the rise in platelet count was
not adequate. Propranolol was added. the response was good and
the lesion started involuting and regressed within 4 months of
time. But the skin remained hypopigmented .

14. Chest wall KHE treated with prednisolone and propranolol. (Courtesy
IJPS)

Case 4

A newborn girl child was brought with a massive Vascular lesion

in the left thigh (Fig 14) The child was started on prednisolone.
Though the platelet count increased the size remained the same
Propranolol was added but still the regression was not adequate.
Vincristine at the dose of 1mg/ sq meter body surface was started
and continued every two weeks and 17 injections were given
over a forty-week period. The lesion regressed and the thigh size
normalized.

Fig 14. Massive KHE responded well to Vincristine.

273
Case 5

A five-year-old boy was seen with swelling and pain over the
lateral aspect of the right thigh. The area was warm but the skin
was normal. Ultrasound and MRI confirmed it to be a vascular
malformation on the lateral aspect of the right leg extending
upwards and inferiorly surrounding the knee joint. He was
started on propranolol and showed improvement. He was lost for
follow-up..

Fig 15. KHE involves the lateral aspect of the thigh and extends on either side
of the knee joint.

Vascular malformations.

Case 1.

A 10-year-old girl child was seen with swelling in the right

cheek from birth. It was slow growing soft and compressible
with a slow refill. A clinical diagnosis of slow filling venous
malformation was done. The child was seen by an interventional
radiologist. Image-guided absolute alcohol was injected. There
was a regression with a small residual lesion that responded to
sodium tetradecyl sulphate injection.

274
 Fig 16.Slow flowing vascular malformation.

Case 2.

A five-year-old child was seen with a vascular anomaly

involving the left side of the cheek, tongue, and lip. The whole
lesion was blue in colour and was a slow filling venous
malformation. From childhood, the child had several different
methods of management without improvement. The child was
put on interferon-alpha 2, two injections which showed
improvement. The parents discontinued the treatment due to
financial constraints.

Fig 17. Slow flowing venous malformation in the lip, cheek and tongue.

275
Syndromic vascular malformations.

Case 1

Sturge weber syndrome

A 14-year-old boy was seen with facial haemangioma on the left

side with a history of convulsions. He was mentally retarded,
with haemangioma on the left side of the face and lip. The left
cornea was clouded with loss of vision. There was intra cerebral
calcification. A clinical diagnosis of Sturge Weber syndrome
There is no specific treatment for this condition. He was
prescribed anti-seizure drugs and was seen by ophthalmologist
for the left corneal opacity.

Fig 18. Left facial hemangioma involving the lips with corneal opacity A case
of Sturge weber syndrome.

276
Case 2.

PHACES syndrome (Described in detail in chapter 14 of

images section)

Fig 19 . A newborn child with midline sternal cleft with median scar extending
to the xiphoid process was seen with haemangioma in the face found as part of
the PHACES phenotypic spectrum.

Case 3.

Klippel Trenaunay syndrome (KTS)

Klippel-Trenaunay syndrome (KTS) is a rare disorder that is

present at birth (congenital) and is characterized by a triad of
cutaneous capillary malformation (“port-wine stain”), lymphatic
anomalies, and abnormal veins in association with variable
overgrowth of soft tissue and bone. KTS is a slow-flow
combined vascular disorder involving abnormal capillaries (C),
lymphatics (L), and veins (V). Therefore, many investigators use
the abbreviation CLVM, rather than KTS,

277
 Fig 20. A, B, C Klippel Trenaunay syndrome (KTS) in a child with rt lower
limb gigantism with venous and lymphatic and capillary haemangiomatous
malformation. Fig 20 E. KTS with identical features with venous channels
producing bleeding on and off. They were cauterised Fig 20 F, G. KTS apart
from gigantism of the right lower limb the foot showed local gigantism of the
great toe and second toe.

All the children were prescribed an elastocrepe compression

bandage. The second child (20E) needed twice coagulation of
bleeding venules in the thigh. The third child (20 F) the local
gigantism of the great toe and the second toe , it was decided to
amputate to facilitate wearing footwear.

KTS is a complex syndrome, Intraabdominal extension can

develop and also visceral involvement.. Thrombophlebitis of the
affected limb, venous thromboembolism, gastrointestinal or
genitourinary haemorrhage if there is visceral involvement,
pulmonary embolism, chronic pain in the limb

Treatment and prognosis

No single treatment is applicable for everyone. Treatment is

decided on a case-by-case. At present, many of the symptoms

278
may be treated, but there is no cure for Klippel–Trenaunay
syndrome.

Treatment in a majority of patients is conservative and

includes the application of graded compressive stockings or
pneumatic compression devices to the enlarged extremity.
Percutaneous sclerosis of localized venous malformations or
superficial venous varicosities may be indicated in some
patients. The vesicles in the capillary malformation can be
improved by laser therapy, sclerotherapy, or sometimes,
resection and closure of the skin or replacement with a split-
thickness skin graft.

Surgical treatment may include epiphysiodesis to control leg

length discrepancy, excision of soft tissue hypertrophy, and
stripping of superficial varicose veins. Debulking procedures can
be done but has high recurrence rate.

Klippel–Trenaunay syndrome. is a complex disorder needing

several different procedures with unsatisfactory results. The aim
is to make the child ambulant without pain and prevent
complications associated with vascular and lymphatic
malformations and overgrowth of the limb.

Infantile haemangioma with haemangio endothelioma of the

liver in one month old girl child was seen with multiple infantile
haemangiomas over the abdomen, chest wall and neck. One in
the neck was large and pedunculated.

279
 Fig 21. Multiple Cutaneous haemangiomas in the child with one
in the neck large and pedunculated.

Clinically the liver was palpable, An ultrasound abdomen was

done which showed multiple small infantile haemangioma
endothelioma. The AFP levels were normal and the complete
blood count revealed no thrombocytopenia, A CT scan of the
abdomen confirmed the diagnosis. The pedunculated
haemangioma over the neck was removed and the child was
asked to come for review. after three months or if symptomatic.
In the meanwhile, the parents took the child to Great Ormand
street children's hospital where they advised him to wait and
review after 6 months. At 6 months the lesions started regressing
and by one year almost completely the liver normalized.

In multiple haemangiomata in the body routine screening of the

abdomen to exclude any liver lesion is mandatory to prevent
missing the associated liver lesions.

280
Vascular malformation in rare sites.

Case 1.

A girl child of 3 years was brought with vascular lesion in the

clitoral area. It was reddish blue involving the clitoral skin. The
blue colouration indicates a mixed vascular malformation The
clitoris was in tact. The child did not have any haemangiomas
elsewhere The vascular lesion over the clitoral skin was removed
and the shaft of clitoris was covered with the local flaps.

Fig 21 Clitoral skin vascular malformation excised and reconstruction done.

Case 2.

A 5 year old boy was brought for vascular anomaly in the glans
penis. He had undergone circumcision in a different center and
fortunately did not have any bleeding since the penile skin was
free from vascular malformation. The whole glans penis was
studded with multiple bluish nodules which could be compressed
and they get refilled on release of compression. Ultrasonogram
showed that the lesion was involving the deeper tissues of glans
penis.

281
 Fig 22. vascular malformation involving the glans penis alone.

The boy had a course of propranolol without any response . He

opted to go to a dermatologist who suggested laser therapy and
was not seen later.

Conclusion

Vascular anomalies in children in the form of vascular tumours

and vascular malformations are very common in children. Most
of the haemangiomas undergo spontaneous regression. Many
regresses with oral medications and a few needs surgery.
Vascular malformations unlike haemangiomas don’t regress and
need some form of therapeutic measure. Some are extremely
challenging syndromic lesions like Klippel Trenaunay syndrome.
The above presentation is a pictorial depiction of vascular
lesions in children. Readers are requested to refer to standard
books and guidelines for the management of varied lesions.

282