Soni Namita A

Department of Medicine, MGM Medical College, Aurangabad, India

Publications

• Case Reports   
  Wolfram Syndrome with Non-Symptomatic Neurodegenerative Changes- A Rare Case Presentation
  Author(s): Gulwe Vijaykumar S, Soni Namita A, Ghadge Sushen L and Varshney Himanshu*
  
  Wolfram syndrome (WFS) (MIM22230, chromosome 4; MIM 598500, mitochondrial) referred to as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness), firstly described in 1938 by Wolfram and Wagener, is a rare neurodegenerative autosomal-recessive disorder mainly characterized by juvenile-onset Diabetes Mellitus (DM) by the age of 7 year and Optic Atrophy(OA) by 11 years of age. Other features include diabetes insipidus, sensorineural hearing loss, peripheral-neuropathy, ataxia, psychiatric problems, renal-tract abnormalities, and bladder-atony. Clinical diagnosis of WFS was confirmed by existence of DM and OA at an early age in the affected patients. WFS can be of; Type 1- mutations in WFS1 gene located at 4p16.1.116 chromosome and Type 2- mutation in WFS2 (CISD2) gene located at chromosome 4Q22-Q24, of Mitochondrial DNA. Disruption of the f.. Read More»