Jonathan: 13 years old in 2011.

Location: USA


– History of seizures during infancy

– Right sided ptosis (droopy eye).

– Mild motor delays.

– Very bright but diagnosed with nonverbal learning disability due to deficits in certain areas. He has a 504 plan to help with organization, and extra time to complete work, but otherwise attends regular classes.

– Seizures resolved, but he now has an abnormal EEG with focal slowing and possible sublinical seizure activity.

– Jonathan also has history of mild joint laxity with elbow dislocations and mild hypotonia.

– Cardiac valvular insufficiency in 3 valves.

– Minor “dysmorphic” features (wide spaced eyes, high arched palate, prominent forehead, unusually small ear canals, ears posteriorly rotated. etc.).

Diagnosis: Bilateral PVNH confirmed by MRI, hypogenesis ofcorpus callosum, mega cisterna magna, significant macrocephaly