Syndrome of the month Wolfram (DIDMOAD) syndrome

Wolfram syndrome (MIM 222300) is the association ofjuvenile onset diabetes mellitus and optic atrophy, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Patients present with diabetes mellitus followed by optic atrophy in the first decade, cranial diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurological abnormalities early in the fourth decade. Other abnormalities include primary gonadal atrophy. Death occurs prematurely, often from respiratory failure associated with brainstem atrophy. Most patients eventually develop all complications of this progressive, neurodegenerative disorder. The pathogenesis is unknown, but the prevalence is 1 in 770 000 in the UK and inheritance is autosomal recessive. A Wolfram gene has recently been mapped to chromosome 4pl6.1, but there is evidence for locus heterogeneity, and it is still possible that a minority of patients may harbour a mitoDepartment of Growth chondrial genome deletion. The best and Endocrinology, available diagnostic criteria are juvenile Hospital, Ladywood onset diabetes mellitus and optic atrophy, Middleway, Ladywood, but there is a wide differential diagnosis Birmingham B16 8ET, which includes other causes of neurodeUK generation. T G Barrett (7Med Genet 1997;34:838-84 1) Departnent of Clinical