JOUBERT SYNDROME WITH CONGENITAL HEPATIC-FIBROSIS - AN ENTITY IN THE SPECTRUM OF OCULO-ENCEPHALO-HEPATO-RENAL DISORDERS

Joubert syndrome is an autosomal recessive inherited condition charact erized by agenesis or hypoplasia of the cerebellar vermis, retinal dys trophy, chorioretinal colobomata, oculomotor abnormalities, episodic h yperpnea, ataxia, and mental retardation. Congenital hepatic fibrosis has not previously been described in Joubert syndrome. We report two u nrelated children with Joubert syndrome and hepatosplenomegaly. On his topathological examination, both had congenital hepatic fibrosis. Both were also found to have congenital medullary cystic disease of the ki dneys. Joubert syndrome appears to be one of a spectrum of congenital malformation syndromes involving the central nervous system, eye, live r and kidneys. (C) 1994 Wiley-Liss, Inc.