Liver fibrocystic disease and polydactyly in two unrelated patients: New syndromatic entity? C. Esmer1, E. Lieberman1, A. Alvarez2, F. Zarate3, V. Del Castillo1. 1) Department of Research in Human Genetics; 2) Patology Department; 3) Gastroenterology Department. National Institute of Pediatrics, DF, Mexico.
Liver fibrocystic disease (LFCD) consisting on dilatation of the intrahepatic bile ducts accompanied by variable degrees of fibrosis can be present alone or be found as part of many syndromes. There are at least 37 conditions, among which are metabolic disorders, bone dysplasias and other mendelian and sporadic diseases. We present two unrelated patients with LFCD and polydactyly. Both abnormalities have been described for four genetic conditions: Bardet-Biedl syndrome, Meckel syndrome, Jeune's asphyxiating thoracic dysplasia and Fraser-Jaquier-Chen syndrome. Bardet-Biedl Syndrome (BBS) is characterized by autosomal recessive inheritance, pigmentary retinopathy, obesity, polydactyly, mental retardation and hypogonadism. The existence of BBS and liver abnormalities has been previously described. Case 1 is a mentally retarded boy 18 months of age, he has hands and feet hexadactyly, kidney failure, convergent strabismus and liver fibrosis, as criteria for suspecting BBS. Case 2 is a 1 year-old child of consanguineous parents, with liver fibrosis and polydactyly in both hands and feet without any other cardinal data supporting BBS. Difficulties in the early diagnosis of BBS have been previously reported for the disease and this is explained by the clinical heterogeneity of manifestations and by the variability at the ages that they appear. Definitively, our patients didn't meet all the criteria to conclude BBS as diagnosis and a new genetic syndrome with an autosomal recessive inheritance must be considered as the cause of their abnormalities.