Wolfram Syndrome – Clinical And Diagnostic Details

Valsalan, Rohith and Gonsalves, Hazel and Mailankot, Maneesh and Mulamani, Navin and Sheshadri, Shubha (2009) Wolfram Syndrome – Clinical And Diagnostic Details. Indian Journal of Clinical Biochemistry, 24 (4). pp. 436-438. (Submitted)

[img] PDF
S.Seshadri-1.pdf - Published Version
Restricted to Registered users only

Download (89kB) | Request a copy

Abstract

Wolfram syndrome, a rare genetic disorder is characterized by juvenile onset diabetes mellitus and optic atrophy. We describe two cases of wolfram syndrome belonging to same family; 25 year old female and her only 15 year old brother. In female, diabetes mellitus and optic atrophy were manifested in 1st decade, diabetes insipidus in 2nd decade and hypoacusis at the age of 25 years. Her ophthalmic evaluation revealed bilateral optic atrophy, decreased vision and peripheral constriction of visual field. However she didn’t have any renal dysfunction which is also considered to be one of the features of the syndrome. Though associated psychiatric features are later manifestations of the syndrome she was admitted with alleged suicidal consumption at the age of 25 years. The brother was asymptomatic except for the diabetes mellitus and insipidus.

Item Type: Article
Uncontrolled Keywords: Wolfram syndrome, Diabetes Mellitus, Optic atrophy.
Subjects: Medicine > MMMC Manipal > Biochemistry
Medicine > KMC Manipal > Medicine
Medicine > KMC Manipal > Radiology
Depositing User: KMC Manipal
Date Deposited: 20 Feb 2012 06:44
Last Modified: 20 Feb 2012 06:44
URI: http://eprints.manipal.edu/id/eprint/3117

Actions (login required)

View Item View Item