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Here, we describe a 20-yr-old woman with COACH syndome (hypoplasia of Cerebellar vermis, Oligophrenia, congenital Ataxia, Coloboma, and Hepatic fibrosis) developing multiple liver lesions. Epigastric and right upper abdominal pain and lack of appetite led to clinical evaluation. Liver function tests showed an increase in transaminases and cholestatic parameters; alpha-fetoprotein was in the normal range. Ultrasound and magnetic resonance imaging examinations revealed multiple liver lesions. Histological examinations of ultrasonographically guided biopsies were consistent with regenerative hepatic nodules without features of malignant or dysplastic cells. The sizes of these tumors did not change over a period of 12 months. Our report presents the 10th case of COACH syndrome with a hitherto undescribed association with hepatic tumors.

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-encephalohepato-renal disorders.

Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth, malformed ears, finger camptodactyly, and joint hyperlaxity. In this report we present a 5-year-old girl with very similar clinical findings. We confirm the existence of this condition as an independent clinical entity, and we propose that, based on the major clinical manifestations, it should be defined as "cerebro-facio-articular" syndrome.