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Kahn et al. (1987) described 3 brothers in whom idiopathic nonarteriosclerotic cerebral calcification (see 213600) was combined with cirrhosis, pulmonary emphysema and berry cerebral aneurysms. All were of short stature with delayed development and seizures. One sib died at age 3 years of hepatic failure and portal hypertension. Ruptured cerebral aneurysms led to the death of the other 2 boys at ages 8 and 13 years. Cerebral calcifications symmetrically involved the basal ganglia and thalami, the dentate nucleus, and the cortical and subcortical cerebral areas.
Kahn, E., Markowitz, J., Duffy, L., Kenigsberg, K., Davis, J. G., Daum, F. Berry aneurysms, cirrhosis, pulmonary emphysema, and bilateral symmetrical cerebral calcifications: a new syndrome. Am. J. Med. Genet. Suppl. 3: 343-356, 1987.