Wolfram syndrom: a case report

Arem Marwa El; Hamza Elfekih; Abdessalem Fatma Ben; Koussay Ach; Yosra Hasni; Chaieb Molka Chadli

doi:10.1530/endoabs.99.EP850

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Endocrine Abstracts (2024) 99 EP850 | DOI: 10.1530/endoabs.99.EP850

ECE2024 Eposter Presentations Diabetes, Obesity, Metabolism and Nutrition (383 abstracts)

Wolfram syndrom: a case report

Marwa El Arem ¹ , Hamza Elfekih ² , Fatma Ben Abdessalem ² , Koussay Ach ² , Yosra Hasni ² & Molka Chadli Chaieb ²

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¹Hospital Fatouma Bourguiba, endocrinology; ²Farhat Hached University Hospital Sousse, Endocrinology

Wolfram syndrome is a rare, autosomal recessive entity characterized by several progressive neurodegenerative manifestations.

Observation: We report the case of a 27-year-old patient from a Consanguineous marriage, followed for hypogonadism with delayed puberty and insulin-requiring diabetes since the age of 13 with negative autoantibodies. His diabetes is complicated after 5 years of a mainly vegetative neuropathy with neurogenic bladder complicated by bilateral ureterohydronephrosis with intermittent catheterization, unfelt hypoglycemia and gastroparesis. The diagnosis of central diabetes insipidus was made after 13 years of progression of diabetes mellitus in the face of no improvement in the polyuropolydipsic syndrome despite glycemic control. This diagnosis was confirmed by a fluid restriction test and an hypothalamic pituitary MRI. Faced with this association, and the presence of a bilateral decline in visual acuity, Wolfram syndrome was suspected. An ophthalmological examination was completed which showed bilateral optical atrophy with minimal diabetic retinopathy. The ENT examination showed bilateral sensorineural hearing loss.

Conclusion: The clinical picture of Wolfram syndrome is quite rich and variable. This heterogenicity is a cause of diagnostic delay and the appearance of quite serious complications.