Microcephaly is a condition where a baby’s head is much smaller than expected. This presentation is a little effort to explain how to approach a child with small head/microcephaly.
3. 2.Observe
for at least
30 seconds
Alertness
Dysmorphic features (e.g. de Lange, Rubenstein–
Taybi)
Wearing glasses (e.g. TORCH, CP,
neurodegenerative disease)
Wearing hearing aid (e.g. TORCH, CP, Cockayne,
neuroaxonal dystrophy)
Skeletal anomalies (e.g. rhizomelia with RCDP)
Posture
• Hemiplegic (e.g. CP, Cockayne)
• Quadriplegic (e.g. CP, neurodegenerative disorders)
• Decorticate (e.g. Krabbe disease)
4. Voluntary movements
• Quality (e.g. poor head control with CP,
neurodegenerative disorders)
• Symmetry (e.g. hemiplegia due to CP, Cockayne, HIV-1)
Involuntary movements (beware CP or
neurodegenerative disease)
• Choreoathetosis (e.g. CP, PKU, Pelizaeus–Merzbacher)
• Myoclonus (e.g. CP, PKU, infantile ceroid lipofuscinosis,
Alpers, Aicardi, incontinentia pigmenti)
• Tremor (e.g. PKU, HIV-1-related encephalopathy)
Skin
• Neurocutaneous stigmata (whorled splashes of brown
pigmentation in incontinentia pigmenti)
5. 3. Now
touch the
child
Access shape of the skull
Shape (describe with child sitting up)
• Elongated AP diameter (sagittal synostosis)
• Wide with high vault (coronal synostosis)
• Asymmetric (e.g. unilateral lambdoid synostosis)
• Narrow forehead, midforehead ridge (metopic
synostosis)
• Tower shaped (multiple synostosis)
• Sloping forehead (autosomal recessive microcephaly)
Palpate the head for ridging along the suture line &
any deformity of skull contour
• Craniosynostosis
• bony defects ( repaired Encephalocele)
6. Palpate fontanelle
a large Anterior fontanelle occurs in
• trisomies
• congenital rubella
• hypothyroidism
examine the head for any scar marks
• surgical repair of Craniosynostosis
• closure of Encephalocele
Look for craniofascial disproportion.
feature of congenital Zika virus infection is
craniofacial disproportion (i.e. the cranial vault
looks markedly too small for the size of the face)
7. 4.Head
• take Head circumference(at least 3 times)
• plot in the centile chart
• Demand for previous growth charts
• If the birth parameters are not given and a
prenatal onset seems likely from the
percentile readings, request these
Take HC of parents as well
12. 6.Systemic
examination
• CVS for congenital heart defects (
congenital rubella,trisomies )
• Abdomen for hepatosplenomegaly (TORCH)
• Genitalia for micropenis with
hypopitutarism structure ( cryptorchidism)
13. BACK for Scoliosis (e.g. CP,
neurodegenerative disorders)
LIMBS Dysmorphism assessment
• Hands (e.g. simian crease: Down syndrome)
• Joints (e.g. contractures: COFS)
• Proximal shortening (e.g. RCDP)
14. 7.Growth
assessment
Note the child’s overall growth( generally
small, only head small)
• Take height and weight
• Plot on growth charts
ASK IF A HILD CAN SIT UP AND
WALK
15. 6.GAIT,
LOWER AND
UPPER
LIMBS
(OLDER
CHILD)
Full assessment (excluding sensory) for:
• Upper motor neurone signs (CP, TORCH,
neurodegenerative disorders)
• Lower motor neurone signs (neuropathies
with some neurodegenerative disorders, e.g.
Krabbe)
• Cerebellar signs (CP, some
neurodegenerative disorders, e.g. Pelizaeus–
Merzbacher)
17. There are essentially three patterns of percentile findings:
Head circumference, height
and weight all at the same
percentile. Possibilities here
include various syndromal
diagnoses, endocrine causes
such as hypopituitarism, and
constitutional growth delay.
1
Head circumference small, but
weight and height percentiles
are even lower (i.e. relative
sparing of the head).
Possibilities here include
various chronic illnesses,
undernutrition and maternal
neglect.
2
Head circumference small,
height and weight at
significantly higher percentiles
and may be within the normal
range. Possibilities include all
the causes of microencephaly
and craniosynostosis.
3
18.
19.
20. Important
1.Always measure the head circumference of
the patient, and of the parents and siblings,
yourself (three times), and assess the
percentile charts (including those of height
and weight) before proceeding further.
2. Differentiate between true microcephaly
(inferring microencephaly) and
craniosynostosis.
3. Always include examination of vision and
hearing in the assessment.