Association of Wolfram syndrome with Fallot tetralogy in a girl
ARCHIVOS ARGENTINOS DE PEDIATRIA, vol.114, no.3, 2016 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 114 Issue: 3
- Publication Date: 2016
- Doi Number: 10.5546/aap.2016.eng.e163
- Journal Name: ARCHIVOS ARGENTINOS DE PEDIATRIA
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Keywords: Wolfram syndrome, Fallot tetralogy, DIDMOAD
- Dokuz Eylül University Affiliated: Yes
Abstract
Wolfram syndrome (DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is a rare neurodegenerative disorder. Mutations of the WFS1 (wolframin) on chromosome 4 are responsible for the clinical manifestations in majority of patients with Wolfram syndrome. Wolfram syndrome is also accompanied by neurologic and psychiatric disorders, urodynamic abnormalities, restricted joint motility, cardiovascular and gastrointestinal autonomic neuropathy, hypergonadotrophic hypogonadism in males and diabetic microvascular disorders. There are very limited data in the literature regarding cardiac malformations associated in children with Wolfram syndrome. A 5-year-old girl with Wolfram syndrome and tetralogy of Fallot is presented herein.