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
