Teaching NeuroImages: MRI of brain findings of Wolfram (DIDMOAD) syndrome
NEUROLOGY, cilt.83, sa.24, 2014 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Editöre Mektup
- Cilt numarası: 83 Sayı: 24
- Basım Tarihi: 2014
- Doi Numarası: 10.1212/wnl.0000000000001082
- Dergi Adı: NEUROLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Hacettepe Üniversitesi Adresli: Evet
Özet
A 31-year-old woman was diagnosed with type 1 diabetes mellitus (DM) at age 5 years and subsequently with hypothyroidism at age 16 years. She developed progressive visual loss at age 19 years and progressive hearing loss at age 28 years. She was clinically and radiologically diagnosed with Wolfram syndrome (figures 1 and 2). Wolfram syndrome, first described in 1938, is a rare autosomal recessive disorder.(1) It features diabetes insipidus (DI), DM, optic atrophy (OA), and deafness (D) (DIDMOAD).(1,2) It is caused by a mutation in the WFS1 gene that encodes wolframin, a transmembrane protein of pancreatic cells.(1) The life expectancy of patients diagnosed with this syndrome is about 30 years.