MedPix® Patient Chart - Case No: 14057 :: - Review Images

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

Relevant Labs:
CK: Low at 37 U/L

- Review Images for PT: 14057

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.

- Review Images for PT: 14057

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

- Review Images for PT: 14057

Dx: Walker Warburg Syndrome

Dx Confirmed by: Geneticist consult

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The patient has been given seizure prophylaxis with Phenobarbital elixir and Topomax tablets and will be followed up every two weeks.