The cerebro-hepato-renal syndrome (CHRS) (Zellweger's syndrome)

The cerebro-hepato-renal syndrome consists of marked flaccidity, abnormal facies, cataracts, flexion contractures of the extremities and, frequently, chondral calcification most marked in the patellae. The calcification is similar to that seen in chondrodystrophia calcificans congenita. Most of the cases are fatal in infancy.Small cortical renal cysts (Potter’s Type IV) are usually found at autopsy. The liver frequently shows fibrosis and contains increased deposits of hemosiderin. Abnormality of the cerebrum including lissencephaly and sudanophilic leukodystrophy are often present.