[Wolcott-Rallisson syndrome: diabetes mellitus and epiphyseal dysplasia]

ABSTRACT

Wolcott-Rallison syndrome [SWR] is a rare autosomal recessive disorder. This syndrome is characterized by early infancy insulin-dependent diabetes associated with spondylo-epiphyseal dysplasia, severe growth retardation and other frequent multisystemic manifestations facial dysmorphia, hepatic and renal dysfunction, mental retardation, cardiovascular abnormalities and neutropenia. Death occurs early in the first ten years of life. The syndrome results from mutations in the gene encoding the eukaryotic translation initiation factor 2-a kinase 3 [EIF2AK3]. We report a family case of WRS in a Moroccan girl who was born from healthy consanguineous parents. Diabetes began at the age of 2 months. Later, she developed spondylo-epiphyseal dysplasia, hepatic dysfunction and she died at 3 year-old of a renal failure. A same case was identified in the siblings with similar characteristics. Through this case, we have to pay attention to the existence of neonatal diabetes which etiopathogeny is different from the child classical auto-immune type I diabetes