Association of Wolfram syndrome with Fallot tetralogy in a girl

Korkmaz H. A., DEMİR K., Hazan F., Yildiz M., Elmas O. N., Ozkan B.

ARCHIVOS ARGENTINOS DE PEDIATRIA, cilt.114, sa.3, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 114 Sayı: 3
  • Basım Tarihi: 2016
  • Doi Numarası: 10.5546/aap.2016.eng.e163
  • Dergi Adı: ARCHIVOS ARGENTINOS DE PEDIATRIA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Wolfram syndrome, Fallot tetralogy, DIDMOAD, DIDMOAD SYNDROME, DIABETES-MELLITUS, OPTIC ATROPHY, MUTATIONS
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.