Endocrine Abstracts

Introduction

Wolfram syndrome (also known as DIDMOAD syndrome) is a rare, genetic, endocrine disorder characterized by the early onset of diabetes mellitus and optic atrophy. It is frequently associated with diabetes insipidus, deafness and neurological signs.

Observation

A 26-year-old woman was burn out of a consanguineous marriage. Diabetes mellitus was revealed at the age of 6 by ketoacidosis, treated from the outset with insulin therapy. Antiglutamic acid decarboxylase and anti-islet cell antibodies were negative.Three years later, a decline in visual acuity was reported. On ophthalmology evaluation, bilateral optic atrophy associated with pigmentary damage to the peripheral retina were reported. At the age of 12, she presented two episods of generalized tonic clonic seizures (negative etiologic investigation) and was started on antiepileptics. At the age of 15, secondary enuresis was installed and a water deprivation test revealed diabetes insipidus which responds well to desmopressin. Wolfram’s diagnosis was brought up. Through audiometry and imitanciometry, moderate hypoacusis was detected with bilateral neurosensory auditory loss. Renal ultrasonography revealed a struggling bladder and dilation of the urinary tract.

Discussion-conclusion

Wolfram syndrome is a rare diffuse neurodegenerative disease, predominantly in the central nervous system and the endocrine abnormalities, causing a complex and disabling syndromic. It constitutes a diagnostic challenge for the diabetologist since diabetes is confused at its onset with type 1 diabetes and is often its first manifestation