Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings

Excerpt

Wolfram syndrome, also referred to as Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD), is a rare autosomal recessive neurodegenerative disorder. Affected individuals had childhood insulin-requiring non-autoimmune diabetes mellitus and bilateral progressive optic atrophy, usually occurring during the first and second decade of life, respectively. Neurological clinical features include sensorineural hearing loss (slowly progressive high-frequency deafness), ataxia, dementia and psychiatric disease; olfactory defects are also frequent; central apnoea is a common cause of mortality. Further, neuronal degeneration might be involved in gastrointestinal dysmotility and a number of urinary tract dysfunctions (hydroureter, detrusor-sphincter dyssynergia, detrusor overactivity, urinary tract atony). Additional manifestations include endocrine dysfunctions—such as central diabetes insipidus, hypogonadism and growth retardation—and congenital heart disease consisting of pulmonary stenosis and ventricular septal defect. …