AUTOPSY FINDINGS IN THE WOLCOTT-RALLISON-SYNDROME

Wolcott-Rallison syndrome is a rare autosomal recessive condition char acterized by diabetes mellitus arising in early infancy and multiple e piphyseal dysplasia. To date, nine cases have been described in the wo rld literature. We report an affected girl who died at the age of 4 ye ars and on whom a full autopsy was performed. In addition to neonatal diabetes mellitus and epiphyseal dysplasia, this child had mental reta rdation and recurrent episodes of self-limiting hepatic failure. Autop sy revealed severe pancreatic hypoplasia and markedly abnormal pancrea tic histology, while histology of the bone was consistent with epiphys eal dysplasia. There was laryngeal stenosis and pulmonary hypoplasia. The heart was enlarged with mitral valve dysplasia and stenosis, left atrial dilatation, left ventricular hypertrophy, and endocardial fibro elastosis. Examination of the central nervous system showed arrhinence phaly and cerebellar cortical dysplasia. The liver showed minor histol ogical abnormalities but no features were present to account for the r ecurrent hepatic failure. In addition to Wolcott-Rallison syndrome thi s child had a deletion at 15q11-12 in 65% of her cells.