COACH syndrome: Report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation

Congenital hepatic fibrosis (CHF) is probably the most common cause of non-icteric hepatosplenomegaly and is encountered mainly in children and young adults. We describe here two brothers from healthy, non-consanguineous parents. The patients showed early hepatosplenomegaly, portal hypertension, and no apparent kidney involvement. Clinical and laboratory findings were similar in both patients. Liver biopsies showed the presence of broad septa of fibrous tissue containing abundant bile ducts, portal tracts enlarged by fibrosis, and preserved lobular architecture. The histological findings were suggestive of CHF. Ophthalmological assessment demonstrated visual impairment with mild exotropia, nystagmus, and oculomotor apraxia. Neurological examination showed moderate mental retardation and cerebellar ataxia. Brain MRI confirmed cerebellar malformation with inferior vermis hypoplasia. This pattern of defects is consistent with COACH syndrome (Cerebellar vermis hypoplasia, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) which has previously been reported in five other cases. Our report may contribute to a better delineation of the COACH syndrome phenotype in the spectrum of oculo-encephalo-hepato-renal disorders. © 1996 Wiley-Liss, Inc.