Wolfram syndrome. A report of four cases and review of the.
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Background. For the first time in 1938, wolfram described four siblings with diabetes mellitus and optic atrophy ().The main features of wolfram syndrome are diabetes mellitus, diabetes insipidus, sensorineural deafness and optic atrophy (2,3).It is a progressive neurodegenerative disorder in which patients present with nonautoimmune and non-HLA linked diabetes mellitus associated with optic.
Wolfram syndrome (WFS) is a rare diffuse neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of central nervous system abnormalities. Insulin-dependent diabetes mellitus with optic nerve atrophy is sufficient criteria for the diagnosis. WFS is a devastating disease for the patients and their families.
Here in we report a case with wolfram syndrome that acute supporative ostomyelitis was one of his peculiar finding. The aim of the present report is to alert physicians about the association between the diabetes mellitus and supporative osteomyelitis with the monogenic syndromes such as wolfram syndrome, and to address the necessity of multifacet evaluation of patients.
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus (non-autoimmune), Optic Atrophy, and Deafness (a set of conditions referred to as DIDMOAD).1, 2, 3 The gene responsible for the WS, named WSF1, encodes an endoplasmic reticulum membrane-embedded protein called wolframin that is expressed in pancreatic beta cells and.
Since its first report in 1938, Wolfram syndrome (WS) and its genetic analysis still remain challenging and valuable. Wolfram and Wagener first introduced four WS cases with a description of concomitant juvenile-onset diabetes mellitus (DM) and optic atrophy (OA) ().WS as an uncommon autosomal recessive neurodegenerative disorder, described by additional main signs and symptoms including.
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