RENAL-INSUFFICIENCY IS A COMPONENT OF COACH SYNDROME

Two sisters, ages 23 years and 6 years, respectively, were found to ha ve congenital ataxia, bilateral coloboma, mental retardation and abnor mal liver function. Magnetic resonance imaging showed cerebellar vermi s hypoplasia in the younger girl and liver biopsy showed hepatic fibro sis in the older sister, This combination of findings suggested a diag nosis of COACH syndrome which is characterized by hypoplasia of cerebe llar vermis, oligophrenia, congenital ataxia, coloboma, and hepatic fi brosis. COACH syndrome is a newly recognized condition. So far,five ca ses have been reported from three sibships. We report two additional c ases from one sibship and suggest that several other cases may already exist in literature that were not recognized as having COACH syndrome . The occurrence of multiple cases in single sibships suggests autosom al recessive inheritance. In addition to previously described findings typical of COACH syndrome, the older of our patients showed progressi ve renal insufficiency with fibrocystic changes on renal biopsy, Renal function has not been described consistently in previous reports of C OACH syndrome but has been abnormal in all cases in which it has been investigated, We suggest that renal insufficiency should be considered a common manifestation of COACH syndrome. (C) 1996 Wiley-Liss, Inc.