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Washington University Experience | MISCELLANEOUS | Wolfram Syndrome | 1A0 Case 1 History
Case 1 History ---- The patient was a 34-year-old man with a history of insulin-dependent diabetes and early onset blindness who presented with several days of acute delirium. He lived in a group home setting. He also had a history of depression and possible substance abuse (cigarettes and marijuana). Laboratory studies on admission were unremarkable with the exception of dehydration and a possible urinary tract infection. Brain MRI showed atrophy. A pre-mortem genetics consult suggested the possibility of Wolfram syndrome; the autopsy report from the referring hospital documents heterozygosity for the WFS1 sequence variant c.2648_2651delTCTT and heterozygosity for a WFS1 missense mutation. Per report, the patient was a documented carrier for Wolfram syndrome, an autosomal recessive syndrome and autosomal dominant for Wolfram-related disorders. The patient became apneic and cyanotic, and was pronounced deceased.
