41 A case of wolfram syndrome: understanding a rare genetic disorder

• Published in: BMJ paediatrics open Vol. 8; no. Suppl 4; p. A15
• Main Authors: Atiq Abdullah Atiq, Elham Salim, Ghatak, Atrayee, Raj, Ankur
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 27.05.2024; BMJ Publishing Group LTD
• Subjects: Case Reports; Delegates’ Abstracts; Diabetes; Genetic disorders; Genetic testing; Insulin; Pediatrics
• ISSN: 2399-9772
• DOI: 10.1136/bmjpo-2024-ASPED.41

BackgroundWolfram Syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare genetic disorder typically inherited in an autosomal recessive manner.This case report unveils the complexities of WS through the experience of a young patient.Case Report(s)A 16-year-old male was diagnosed with insulin dependent diabetes mellitus (IDDM) at the age of 4 years. His treatment history evolved from pre-mixed insulin to multiple daily insulin injections and eventually to insulin pump therapy aged 8 years. Initial ophthalmic examination was normal except for myopia. Subsequently, he developed reduced visual acuity (VA) bilaterally. Progressively VA reduced, and head MRI and optical coherence tomography (scan attached) confirmed optic atrophy. Subsequent genetic testing confirmed a WFS1 gene-related disorder in April 2021. Urology and hearing assessments provided reassuring results. He was registered blind in March 2022. Recently, he developed paraesthesia and loss of proprioception, initially attributed to vitamin B12 deficiency, which has progressed to ataxia despite completing therapy. The family received genetic counselling and psychological support. Notably, parents are first degree cousins and have six daughters. One sibling was diagnosed with IDDM just before her fourth birthday; subsequent screening confirmed WS. The youngest sister, aged 8 months, is confirmed to have WS through screening, yet exhibits no clinical manifestations. Three siblings are heterozygous carriers of WFS1 mutation.Conclusion(s)This case highlights the intricate nature of WS, emphasizing the critical importance of early suspicion, timely genetic testing, and comprehensive care for individuals and families coping with this rare genetic disorder. It underscores the pressing need for research to uncover potential curative treatments.