ECE2020 ePoster Presentations Diabetes, Obesity, Metabolism and Nutrition (142 abstracts)
Urinary disorders revealing a wolfram syndrome: A case report
Mouna Sghir 1 , Soumaya Elarem 1 , Wafa Said 1 , Aymen Haj Salah 1 , Baha Zantour 2 & Wassia Kessomtini 1
1Tahar Sfar Hospital, Physical Medicine And Rehabilitation, Mahdia, Tunisia; 2Tahar Sfar Hospital, Endocrinology, Mahdia, Tunisia
Background: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus (non-autoimmune), Optic Atrophy, and Deafness.
We report the case of a patient sent to the physical and rehabilitation department to manage urinary disorders and for whom the diagnosis of WS was retained.
Case report: A 24-year-old female patient, with history of diabetes mellitus type I from the age of 3 years, deafness, optic atrophy, presented with urinary retention. First Echo graphic and biological investigations showed no alteration of the upper urinary tracts. The urodynamic assessment found a hypo contractile retention bladder. Self-catheterization was indicated. However, the patient complained of polyuria. She was followed up in endocrinology department where diabetes insipidus was explored and the diagnosis of WS was, then, retained. The patient had also a history of and insipidus syndrome and was sent to the endocrinology department. The diagnosis of WS was, then retained. The follow-up at 4 years found an alteration of the upper urinary tract.
Conclusion: WS should be considered a differential diagnosis in patients with diabetes mellitus who present with neurogenic bladder, and it is necessary to perform a hearing test and an ophthalmological examination. The urological risk is major requiring a systematic follow-up of these patients.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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