Teaching NeuroImages: a neuroendocrine rarity: Wolfram syndrome

Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD syndrome). It is caused by a mutation in the WFS1 gene (chromosome 4p16.1, involved in regulation of intracellular calcium) that encodes wolframin, a transmembrane protein of pancreatic β cells. WS1 is a rare disorder characterized by the development of insulin-dependent diabetes mellitus at an average age of 6 years, followed by optic atrophy (figure) at an average age of 11 and partial central diabetes insipidus and deafness in adolescence. Additional neurologic manifestations include truncal ataxia, myoclonus, epilepsy, nystagmus, and hyposmia.(1,2.)