title: Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.
abstract: OBJECTIVE
  Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India.
  
  
  METHODS
  Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form.
  
  
  RESULTS
  Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied.
  
  
  CONCLUSIONS
  The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations.
authors: Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences, Soura, India. ashrafendo@rediffmail.com
authors: M A
authors: MA
authors: Ganie
authors: B A
authors: BA
authors: Laway
authors: S
authors: S
authors: Nisar
authors: M M
authors: MM
authors: Wani
authors: M L
authors: ML
authors: Khurana
authors: F
authors: F
authors: Ahmad
authors: S
authors: S
authors: Ahmed
authors: P
authors: P
authors: Gupta
authors: I
authors: I
authors: Ali
authors: I
authors: I
authors: Shabir
authors: A
authors: A
authors: Shadan
authors: A
authors: A
authors: Ahmed
authors: S
authors: S
authors: Tufail
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002761:Cholangitis / Q000175:diagnosis; D042883:Choledocholithiasis / Q000175:diagnosis; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007194:India / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008286:Malabsorption Syndromes / Q000175:diagnosis; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009207:Myoclonus / Q000175:diagnosis; D009896:Optic Atrophy / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D010375:Pedigree; D014929:Wolfram Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein