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Diabet Med. 2011 Nov;28(11):1337-42. doi: 10.1111/j.1464-5491.2011.03377.x.

Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

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1
Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences, Soura, India. ashrafendo@rediffmail.com

Abstract

AIMS:

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.

[Indexed for MEDLINE]

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