Jonathan

Jonathan: 13 years old in 2011.

Location: USA

Symptoms:

- 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