Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of anew recessive syndrome

Classical neonatal diabetes mellitus is defined as hyperglycaemia occurring within the first six weeks of Life in term infants. Cerebellar agenesis is rare. We report three cases of neonatal diabetes mellitus, cerebellar hypo plasia/agenesis, and dysmorphism occurring within a highly consanguineous f amily. This constellation of abnormalities has not previously been describe d. Two of these cases are sisters and the third case is a female first cous in. The pattern of inheritance suggests this is a previously undescribed au tosomal recessive disorder. Prenatal diagnosis of the condition in this fam ily was possible by demonstration of the absence of the cerebellum and seve re IUGR.