CASE A :

Case 27-2014: A 10-Month-Old Boy with Microcephaly and Episodic Cyanosis

Patients Profile

A. Demographic

Age: 10.9 month old
Gender: Boy

He lived with his parents and older siblings
Parents were white, no known history of consanguity.


B. Chief Complaint
Episodes of Cyanosis

C. Present History of Illness

He was born at another hospital after 39weeks of gestation.
Mother is 36 years old multigravida, with prenatal care.
Prenatal ultrasound shows mild hydronephrosis.
Labor was induce because of maternal hypertention.

Apgar Score: 8 & 9 at 1 and 5minutes

On Examination:
Microcephaly noted
No dysmorphic features
Weight: 2.9kg
Length: 50.8cm
Head Circumference: 29.5cm
Newborn Screening: Normal

On the 18
th
day of life

o Radiograph of the head showed no abnormalities other than a small
calvarium.
o Toxoplasma & Rubella testing was positive for IgG antibodies and negative
for IgM antibodies.
o Cytomegalovirus testing was negative.

At 3 weeks

o He was evaluated by the genetics service at the second hospital because of
microcephaly.
o His parents reported that he rolled his eyes when upset.
o Had labor breathing after feeding .

On Examination:
There was microcephaly.
Coronal ridges palpable and no other abnormalities.
Array-comparative genomic hybridization testing revealed 16p11.2
duplication, was thought to be benign.

o His formula was changed and symptoms associated with feeding improved.

At 6.5 weeks of age

o MRI revealed small brain, delayed myelination, and partial agenesis of the
posterior corpus callosum.

At 5months of age

o The patient was unable to roll over, constipated and his mother noted poor
visual tracking.

One month later

On Neurologic Examination
Revealed pupils that were equal in size and reactive to light.
Decreased visual fixation and failure to track.
Decreased truncal control.
Axial hypotonia.
Near-normal tone in arms and legs (which patient can move
normally).
Muscle bulk were normal.
Deep tendon reflex were normal.
Planter reflex were flexor.

On Neuro-opthalmologic examination
No optic-nerve hypoplasia
Diagnosis of cortical blindness was made

20 days before the current admission

o Episodes of head bobbing was observed.