Jonathan: 13 years old in 2011.
- 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