The patient is a five year old male born four weeks premature. The child is currently afflicted with chronic developmental delay disorder, seizure disorder, and respiratory distress.
General: mildly obese.
HEENT: Head abnormal; Eyes show microphthalmia
Neuro: suppressed gag reflexes with severe developmental delay
Extremities: No clubbing but abnormal feet
CK: Low at 37 U/L
Image 1: Coronal T2 weighted image shows marked decreased gyral folds, a thin layer of gray matter, and ventriculomegaly leading to diagnosis of type 2 lissencephaly.
Image 2: Sagittal T2 weighted image shows dysgenesis of the corpus callosum, markedly underdeveloped cerebellar hemispheres, and an enlarged fourth ventricle and widened cerebral aqueduct indicative of hydrocephalus.
Image 3: Axial T2 weighted FSE image shows significant ventriculomegaly indicative of hydrocephalus.
Image 4: AP Femur image shows underdeveloped muscle fibers with irregularly bowed and radiolucent bone most prominent at the distal femur.
1) Dandy Walker Syndrome
2) Fukuyama congenital muscular dystrophy
3) Trisomy 18
4) Trisomy 13
5) Meckel syndrome
6) Fryns syndrome
7) Viral infection
8) Goldenhar syndrome
9) Miller-Deiker syndrome
10) Neu-Laxova syndrome
The patient has been given seizure prophylaxis with Phenobarbital elixir and Topomax tablets and will be followed up every two weeks.
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