Primitive Reflexes

https://www.youtube.com/watch?v=rHYk1sYsge0

Reflex Description Age of resolution Clinical significance

Moro ● Holding an infant in ● 3–6 ● Unilateral absence

reflex the supine position months ○ Ipsilateral
while supporting the brachial
head, then allowing plexus
the head to suddenly injury
fall back elicits ○ Ipsilateral
abduction and fractured
extension of the clavicle
infant's arms and ● Bilateral absence
elbows, followed by indicates brain injury
their flexion. (e.g., due to birth
asphyxia, intracranial
hemorrhage) or
bilateral brachial
plexus injury

Rooting ● Stroking the cheek ● 4 ● Unilateral absence

reflex elicits turning of the months indicates peripheral
head towards the injury
stimulus and opening ● Bilateral absence or
of the mouth. premature resolution
○ Perinatal
Sucking ● Touching the roof of asphyxia
reflex the mouth elicits a ○ Intracranial
sucking motion. hemorrhag
e
Palmar ● Stimulation of the ● 3–6 ● Unilateral absence
grasp palm elicits a grasping months ○ Brachial
motion. plexus
injury
○ Peripheral
nerve injury
● Bilateral absence of
the reflex at birth may
indicate cerebral
palsy.

Plantar ● Stimulation of the ● 3 ● Bilateral absence:

grasp sole elicits curling of months suggestive of cerebral
the toes (plantar palsy.
flexion).

● Stroking the sole of ● 12 ● Persistence or

Plantar
the foot from heel to months reappearance after
reflex
toe elicits 12 months indicates
dorsiflexion of the an upper motor
foot with neuron lesion
concomitant (Babinski sign).
extension of the big
toe and fanning of the
other toes.

Stepping ● Holding the infant ● 2 ● Infants born at term

reflex upright with feet on months step from heel to toe.
the examination table ● Preterm infants
elicits a stepping tiptoe.
motion with
alternating flexion
and extension of the
legs.
Galant ● Holding the infant in ● 2–6 ● Persistent Galant
reflex the prone position months reflex might be
and stroking it on one associated with
side of the [1]
bed-wetting
paravertebral region
elicits flexion of the
lower back and hip
towards the stimulus.

Asymmetri ● Turning the head to ● 3–4 ● The ATNR aids in the

cal tonic one side elicits months development of
neck reflex extension of the arm hand-eye
(ATNR) and leg on the side coordination.
the head is facing and
flexion of the
contralateral arm and
leg (fencing posture).

● Tapping the glabella ● 4–6 ● Persistent glabellar

Glabellar
elicits blinking. months tap sign is a frontal
tap sign
release sign called
[2]
Myerson sign.

Landau ● Placing the infant in a ● 24

reflex prone position elicits months
arching of the back
and raising of the
head.

Snout ● Tapping or applying ● 4

reflex light pressure to months
closed lips elicits
puckering.

Parachute ● Holding the infant in ● Persists ● Infants suffering from

reflex an upright position, neonatal
followed by sudden encephalopathy may
lowering towards the show an asymmetric
 examination table or absent parachute
elicits extension of reflex
the infant's arms.
● Parachute reflex
● This reflex appears at
6–9 months of age.
● A developmental
reflex that appears
around 6 months of
age and persists
throughout life.
Elicited with the
sensation of falling.
To test for this
reflex, the child is
held in upright
position with the
back to the
examiner and
suddenly rotated
forward with the
body facing down.
In response, the
child's arms extend
towards the ground
in a protective
motion to brace the
fall.

●
● Child development and
milestones → Primitive
reflexes

●
●
Neonatology
Erythema toxicum — also called erythema toxicum neonatorum (ETN) or toxic erythema of the
newborn — is a common rash seen in full-term newborns. It usually appears in the first few days after birth
and fades within a week. Up to half of all newborns will have ETN.

Nevus flammeus (port wine stain)

Milia
Strawberry naevus (cavernous hemangioma)
Treatment: Spontaneously regresses from around 15 months. For large lesions: Propranolol can help to stop
the growth of blood vessels and shrink existing blood vessels within the hemangioma.

Umbilical granuloma

Diaphragmatic hernia
“Slapped cheek” from parvovirus infection. Fifth disease (erythema infectiosum). Tx: supportive.
Scarlet fever is another disease with slapped cheek
Maculopapular pash on the cheek with circumoral pallor.

Mongolian blue spots These are blue/black discolorations at the base of the spine and on the buttocks, most
commonly found in Asian and African infants. They fade slowly over the first few years of life, and are these of no
clinical significance
Molluscum contagiosum This is caused by a poxvirus. The lesions are small, skin-coloured, pearly papules
with central umbilication. They may be single but are usually multiple. Lesions are often widespread but
tend to disappear spontaneously within a year.
Rashes:
Exanthem- defined as an extended uniform rash. Can be localized or generalized.
Enanthem- rash confined to mucus membranes

Measles- paramyxovirus
https://www.youtube.com/watch?v=PC_sPJmN3QU

Incubation period- 8-10 days asymptomatic

Prodromal phase- 3 C’s- conjunctivitis, coryza and cough. Koplik spots on buccal mucosa.
Exanthematous phase- maculopapular rash that spreads in a cephalo-caudal pattern. It spares palms and soles.

Investigations: 1. CBC + diff- leukopenia and lymphopenia 2. PCR of oral fluid: measles RNA 3. Serology (Gold
Standard)- detection of measles IG-M antibodies (appears with the onset of exanthem)

Management: Supportive i.e. Adequate hydration and antipyretics.

Prevention: MMR vaccine- Given at 12 months and 15 months
Complications: Otitis media (most common) Measles causes transient immunosuppression and may lead to
serious complications such as encephalitis , otitis, or pneumonia. A rare but lethal late complication of
measles is subacute sclerosing panencephalitis
(SSPE), which may also affect immunocompetent individuals.

Chicken pox (Varicella)

https://www.youtube.com/watch?v=AdWRofoc1JM
Organism: Varicella zoster virus (A human herpesvirus type 3, HHV-3)
Transmission: Airborne droplets or direct skin contact with vesicle fluid or transplacental
Clinical Diagnosis…...Tests than can be done- Tzanck smear ( Smear of vesicle fluid shows multinucleated giant
epithelial cells with eosinophilic intranuclear Cowdry A inclusion bodies.) or PCR
Prevention:
Varicella vaccine (live attenuated vaccine)
Differentials for non-blanching rash:
Meningococcal septicaemia-
HUS- https://www.youtube.com/watch?v=KA1vtqBtKeo
ITP-immune thrombocytopenic purpura
HSP-
 Most common vasculitis in childhood (vasculitis of small arteries)
https://www.youtube.com/watch?v=MzXwZPxjTWk
URTI (1-3 weeks prior)
Palpable Purpura (100%)- non-blanching rash. Spreads from legs upwards to buttocks.
Joint pain (75%)- arthralgia/arthritis affecting knee and ankle.
Abdominal pain (50%) (associated GI bleed, intussusception)
Kidney impairment (50%) - microscopic hematuria, proteinuria, HTN, renal failure

Investigations: Clinical diagnosis…. Skin/Renal biopsy for IgA deposition. Abdominal USS- for intussusception.

Treatment: supportive- anti inflammatory for joint pain. Continuous monitoring of BP (HTN) and Urine (for
proteinuria) every 6 months
Hemolytic uraemic syndrome
Definition: a thrombotic microangiopathy in which microthrombi, consisting primarily of platelets, form and occlude
the arterioles and capillaries.

HUS: Thrombocytopenia, Microangiopathic hemolytic anemia ( 2’ to mechanical damage of erythrocytes by

microthrombi in small blood vessels. Schistocytes seen on peripheral blood smear.) Impaired renal function.

Investigations: CBC, Peripheral Blood Smear, Urine dipstick.

Treatment: Supportive care- Monitor electrolytes and hydration Avoid antibiotics!!!. Consider RBC transfusion

Complications:

● CNS
○ Seizure
○ Paresis
○ Stroke
○ Coma
● GI tract
○ Hemorrhagic colitis
○ Bowel necrosis, perforation, stricture
○ Peritonitis
○ Intussusception
● Heart: ischemia and fluid overload
● Pancreas
● : transient or permanent diabetes mellitus
● Liver: hepatomegaly, transaminase elevations
● Kidney
Kawasaki Disease
Vasculitis of unknown origin (2nd most common)
3 phases: Acute phase, Sub-Acute phase and Convalescent phase

Cracked red lips and Peeling of fingers and toes (desquamation of fingertips and toes after 2-3 weeks)

Morbilliform rash
A) Bilateral, nonpurulent conjunctivitis
(B) Stomatitis with bright red lips and a strawberry tongue
(C) Truncal rash including the perineum
(D) Erythema and edema of the hands
(E) Erythema and edema of the feet
(F) Desquamation of the fingers (occurs during subacute phase, 2-3 weeks after onset of disease)
(G) Reactivation of a BCG vaccination scar with erythema and induration (early and very specific sign of
Kawasaki disease)
(H) Perianal erythematous desquamation
*unilateral cervical lymphadenopathy
*Fever > 5 days

Treatment: 1. IV immunoglobulins 2g/Kg over 12 hours (reduces the risk of coronary artery aneurysm
2. Aspirin- 80-100 mg/kg/d q 6 hourly- inflammatory dose for acute phase & 3-5 mg/kg/d - antithrombotic dose for
subacute and convalescent phase.

Complications: Coronary Artery Aneurysm (r/o with echo)

1. Myocardial infarction. 2. Coronary artery thrombosis. 3. Heart Failure 4. Pancreatitis
Staph Aureus skin infections

Staphylococcal scalded skin - Nikolsky sign (areas of epidermis separate on gentle pressure) leaving denuded areas
of skin as seen in Fig15.11

Treatment: IV flucloxacillin. Analgesia. Monitoring of hydration and fluid balance

Rupture of vesicles lead to characteristic confluent honey-colored crusted lesion

Periorbital cellulitis

Treatment: High dose IV ceftriaxone

Complications: Can evolve to orbital cellulitis- there is proptosis, painful or limited ocular movements and possibly
reduced visual acuity. Orbital cellulitis can result in abscess formation, meningitis or cavernous sinus thrombosis.
Investigation: CT or MRI.

Erythema nodosum
Causes
● Streptococcal infections (one bug - Group A streptococcus)
● Inflammatory bowel disease
● Drugs e.g. sulfonamides or OCP
Erythema Marginatum seen in Rheumatic Fever. It is apart of Jone’s Criteria

warm rag on area and it can reappear (One criteria)

Group A strep.

JONES CRITERIA FOR ACUTE RHEUMATIC FEVER- 5 criteria

Dx made by 2 major or 1 majo, 2 minor
MAJOR CRITERIA:
1. Joint pain (first symptom)- symmetrical, large joints but not hips, painful (Symmetrical polyarthritis), Moves from
one joint to the other
2. O/Heart- 3 levels- can affect myocardium, pericardium and valves
3. N- Subcutaneous nodules (extensor surfaces- behind elbow)
4. E- Erythema marginatum (10%)
5. S- Sydenham Chorea (abnormal purposeless movements)

MINOR CRITERIA
P-previous rheumatic fever
E- ECG with pr prolongation
A- Arthralgias
C- CRP & ESR elevated
E-Elevated temperature.
Right- Erythema Migrans associate with Lyme Disease. Hx of camping and got bitten (not found locally) .
Organism; Ixodes Tick (Deer tick)
Etiology agent: Borrelia burgdorferi

Left image- Erythema Multiforme

Causes: Drugs- antiepileptic drug, sulfonamides
Inflammatory Bowel Disease
Mycoplasma pneumonia
Steven Johnson Syndrome- severe bullous form of erythema multiforme involving mucus membrane.
Conjunctivitis, corneal ulceration and uveitis.
Necrosis of mucosal lesion
Widespread erythematous lesion.
No. of mucus membrane- 2 or more

Toxic Epidermal Necrolysis - 30 % skin involvement

Poor prognosis. Presents with shock
Meningitis
https://www.youtube.com/watch?v=aQjueaOOSQM
GEL babies.
Meningococcal septicaemia This is meningococcal sepsis and immediate treatment with intravenous antibiotics is
necessary.

Lesion: purpura fulminans

Organism: N. meningitidis (Type ACY)
Vaccine is given to the sickle cell patients and university student staying on the wards.

Complication: Waterhouse Friedreich Syndrome- hemorrhage into adrenal

Guttate psoriasis
Follows streptococcal or viral infection.
Round oval erythematous scaly lesions on the trunk.

Treatments: Resolves in 3-4 months or treat with the use of bland ointments.

Genetic abnormalities
Down Syndrome
brush field spots on iris

Transverse palmar crease

Sandal Gap

Upward slanting of eyelids, prominent epicanthic folds, prominent tongue, low set ears, short neck, broad/flat nasal
bridge.

At birth T21 is suspected in babies that are hypotonic, have craniofacial abnormalities i.e. flat occiput, single palmar
crease, sandal gap and incurved fifth finger.
Trisomy 18 (Edward Syndrome)
PRINCE Edward turned 18: Prominent occiput, Rocker-bottom feet, Intellectual disability,
Nondisjunction (in meiosis), Clenched fists, low-set Ears, and chromosome 18.
Trisomy 13 (Patau syndrome)

Aplasia cutis congenita

7 Ps of Patau syndrome: holoProsencephaly( incomplete develop’t of forebrain), cleft liP

and Palate, Polydactyly, Pump disease (congenital heart disease), Polycystic kidney
disease, cutis aPlasia.

Turner Syndrome
O

NOT associated with advanced maternal age. Normal intelligence.

Treatment: Estrogen and progesterone substitution, growth hormone therapy.

Kleinfelter
Fragile X is one of the most common causes of learning difficulties in boys. Characteristic features are a long face
with large everted ears.
Nephrology
Nephrotic syndrome. This is the characteristic presentation. He will have very low serum albumin (<20-25g) which
leads to widespread capillary leak and fluid accumulation. He will have gained a significant amount of weight (from
fluid).
Hematuria

Ortho
Slipped capital femoral epiphysis (also known as slipped upper femoral epiphysis). This results in
displacement of the epiphysis of the femoral head posteroinferiorly . It is most common at 10–15 years of
age during the adolescent growth spurt, particularly in obese individuals.

Legg Calve Perthes disease. This affects boys five times more frequently than girls. It usually presents
between the age of 5 and 10 years. The X-ray Fig. 28.6 confirms the diagnosis with flattening of the right
femoral capital epiphysis. When in doubt about the X-ray, compare both hips. Differentials for avascular
necrosis sickle cell and other hemoglobinopathies-, septic arthritis
Respiratory

Harrison sulcus
Harrison sulcus is caused by chronic indrawing of the chest wall because of diaphragmatic tug from chronic
respiratory disease. In this case he appears to have chronic under-treatment of asthma.

Bronchopulmonary dysplasia (BPD) This is the name used for infants born preterm who still have an oxygen
requirement at a postmenstrual age of 36 weeks. The X-ray characteristically shows widespread areas of
opacification and cystic changes
The photograph shows the characteristic grossly enlarged ‘cherry red’ epiglottis of acute epiglottitis. It is caused by
Haemophilus influenzae type b. In the UK and many other countries, the introduction of universal H. influenzae type b
immunization in infancy has led to a >99% reduction in the incidence of epiglottitis and other invasive H. influenzae
type b infections.

Cystic fibrosis The history of recurrent severe chest infections with poor weight gain is suggestive of cystic fibrosis.
The chest X-ray shows extensive changes with large-volume lungs with extensive reticulonodular shadowing, and
peribronchial thickening with hilar lymphadenopathy, consistent with cystic fibrosis. With screening, late
presentation like this will become uncommon.
Seen in Downs Syndrome

HAEMATOLOGY
This girl has von willebrand’s disease (vWD) and presents with a picture of mucosal bleeding which can be associated
with platelet disorders (of actual number or function). This would suggest the mild phenotype of vWD, type 1 with
partial deficiency of vWF.
vWF is involved in platelet adhesion and prevents degradation of factor 8

There are three types as follows:

•Type 1 – partial deficiency of vWF
Type 2 – defective vWF
Type 3 – complete deficiency of vWF
Acquired vWD- occurs secondary to medical conditions such 1. lymphoproliferative and myeloproliferative diseases
e.g multiple myeloma, essential thrombocythemia, 2. Autoimmune disease e.g. SLE, 3. Cardiovascular defects e.g. VSD
and aortic stenosis. 4. Drugs e.g. valproic acid

vWD type 1 and 2 are autosomal dominant (type 3 is autosomal recessive) and a family history may be useful in the
history. Haemophilia A and B are X-linked disorders.

Presentation:
Asymptomatic
Mucocutaneous bleeding e.g. ecchymoses, epistaxis, bleeding of gingiva and petechiae.

Lab: increased bleeding time, normal or prolonged aPTT

Auer rods seen in AML

Tumor lysis syndrome

An international consensus expert panel has proposed a classification that stratifies cancers into high, intermediate,
or low risk for tumor lysis syndrome. [7] The high-risk group of cancers includes the following:

● Advanced Burkitt lymphoma/leukemia or early-stage disease with elevated baseline LDH

● Acute lymphocytic leukemia (ALL) with white blood cell (WBC) count ≥ 100,000/µL, or less if the
baseline elevation of LDH is twice the upper limit of normal (ULN)
● Acute myeloid leukemia (AML) with WBC count ≥10000/µL
● Diffuse large B-cell lymphoma with an elevated baseline LDH of twice ULN and bulky disease

Intermediate-risk malignancies include the following:

● AML with WBC of 25,000–100,000/µL

● ALL with WBC < 100000/µL and an LDH of less than twice ULN
● Early stage Burkitt lymphoma/leukemia with an LDH of less than twice ULN
 ● Diffuse large B-cell lymphoma with a baseline increase in LDH of twice ULN but non-bulky disease

Low-risk diseases include the following:

● Indolent lymphomas
● Chronic lymphocytic leukemia
● Chronic myeloid leukemia in the chronic phase
● AML with WBC count < 25,000/µL and an LDH elevated to less than twice ULN
● Multiple myeloma
● Solid cancers

Astrocytoma- neuroepithelial tumors (gliomas) that arise from the supportive tissue of the brain.
WHO classifies them into 4 different grades.
Grade 1 (commonly seen in children) consists of pilocytic astrocytoma (site: cerebellum) and optic gliomas (site:
optic chiasm, optic N). It is associated with NF1. They both have a good prognosis.
Presentation:
For pilocytic astrocytoma: Vomiting, Ataxia and FTT
For optic glioma: Sporadic episodes of vision impairment, bulging eyeball and impaired eye movements.
Investigations: MRI

Treatment
For pilocytic astrocytoma: surgical resection
For optic glioma: No treatment in asymptomatic patients, surgical resection +/- adjuvant radiotherapy or
radiotherapy for unresectable tumors
Prognosis: Good
https://www.amboss.com/us/knowledge/Perinatal_asphyxia_and_hypoxic-ischemic_encephalopathy
omphalocele?
Folic acid prior to conception and early in pregnancy significantly reduces the chance of spina bifida (as
shown in this image). It is the only vitamin supplement that reduces the risk of neural tube defects.
 NEUROCUTANEOUS SYNDROMES

1. TUBEROUS SCLEROSIS
Autosomal dominant
Mutation in tumor suppressor genes TSC1 or TSC2

Clinical features-
● “Ash leaf” spots- hypopigmented macules on the trunk and extremities; Visualized using black light emitted
by a Wood’s lamp (UV light)

● Angiofibromata (Adenoma sebaceum)- in butterfly distribution over nose bridge and cheeks (usual before
age 3). These are benign tumours composed of blood vessels and fibrous connective tissue
● Shagreen patch- Roughened patches of skin/ flesh coloured papule usually over lumbar spine
 Neurological features (seen in 50%):
● Infantile spasms and developmental delay
● Intellectual disability, often with autism
● Epilepsy- often focal

● Can also have small benign tumours- Brian tumours (hamartomas, giant cell astrocytoma), Cardiac
rhabdomyoma, Renal disease (renal cysts, renal ca)

Diagnosis- ECG, EEG (seizure activity), Imaging (Echo, abdominal MRI, contrast cerebral CT/MRI)
Genetic testing
Treatment- Seizure control, Removal of angiofibromas (laser or electrosurgery)

2. Neurofibromatosis

Autosomal dominant
Mutation in neurofibromin-1 gene (NF1)

Diagnosis: TWO OR MORE OF CRITERIA MUST BE MET

1. Six or more cafe au lait spots, >5mm pre puberty, >15mm post puberty & 2. Axillary (and inguinal) freckling

3. More than one neurofibroma- firm nodular overgrowth of any nerve

4. Optic glioma
5. One Lisch nodule (hamartoma of the iris seen on slit lamp)

6. Sphenoid dysplasia
7. First degree relative with NF-1
Ddx- Tuberous sclerosis, Bloom syndrome

Tx- Excision of tumors, Surgery for kyphoscoliosis

3. Sturge-Weber Syndrome

CF-
1. Port-wine stain (Nevus flammeus) - Seen in CN V1 and V2 dermatomes of face; unilateral
 2. CNS- Leptomeningeal angioma, seizures, intellectual disability, recurrent stroke
3. Eye- Episcleral angioma, increased IOP and early onset glaucoma

Investigations:
Imaging- CT or Skull x-ray: Tram track appearance
EEG, Eye exam (check IOP), Genetic testing

Tx- Seizure control, glaucoma mgmt, laser therapy for port wine stain, low dose ASA for stroke prophylaxis