ESPE Abstracts (2016) 86 P-P2-272

A Case Report of Wolfram Syndrome due to a Novel Homozygous Mutation in WFS1 Gene

Meltem Tayfuna, Aslihan Araslia, Selin Elmaogullaria, Ahmet Ucakturka & Fatma Demirelb


aAnkara Children’s Hematology and Oncology Training Hospital, Department of Pediatric Endocrinology, Ankara, Turkey; bYildirim Beyazit University, Medical School, Department of Pediatric Endocrinology, Ankara, Turkey


Introduction: Wolfram Syndrome (WFS: OMIM 222300), also known as DIDMOAD (diabetes mellitus, optic atrophy and deafness) is an autosomal recessive, progressive, neurologic, and endocrinologic, degenerative disorder caused by mutation in the WFS1 Gene. This report presents a case with a new defined mutation in WFS.

Case presentation: Fourteen-year-old male patient was diagnosed with non-autoimmune type I diabetes at the age of 5 and insulin treatment was applied to him. He has been diagnosed optic nerve degeneration at 7 years old and diagnosed sensory neural hearing loss at the age of 9 and implanted cochlear implants to him. His parents were not relative. Physical examination revealed that body weight 52.5 kg (−0,95 SDS), height 157.5 cm (0.95 SDS), testicular volume 5/5 cc, pubic and axillary hair were consistent with stage 2. There were no clinical and lab findings about diabetes insipidus. Neurological examination and cranial imaging were normal. Genetic testing for WFS1 gene mutation was performed and a new homozygous mutation in WFS1 gene were identified in the genetic analysis (c.15361549dupCTATCTCTTCTTC).

Conclusion: Non-autoimmune diabetes mellitus is the first and the most frequently seen symptom of WFS. Optic atrophy, and deafness generally appears in the first decade of patients. Diabetes insipidus, renal and neurologic signs may appear in the second 10 years. Patients should be monitored multidisciplinary. Genetic studies will provide early diagnosis and genetic counseling for families.

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