Include nonarteriosclerotic cerebral
calcifications symmetrically involving the cortical and subcortical areas,
the dentate nucleus, the basal ganglia and the thalamus, cerebral berry
aneurysms (most commonly of the middle cerebral, anterior and posterior
communicating arteries), liver abnormalities (cirrhosis with portal
hypertension, hepatic failure, hepatic encephalopathy, hepatomegaly),
clotting abnormalities, severe bilateral pulmonary emphysema, short stature,
seizures starting in infancy, dysarthria, dysmetria, delayed motor
development, and incoordination. Mental retardation was present in one of
the three siblings. Of the three reported cases, one died of liver failure
and portal hypertension at 3 years of age; the other two died secondary to
ruptured cerebral aneurysms at ages 8 and 13 years, respectively.