title: Association of Wolfram syndrome with Fallot tetralogy in a girl.
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.
authors.affiliation: Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatrics, Division of Pediatric Endocrinology, Izmir, Turkey. drkorkmazanil@hotmail.com.
authors.forename: Hüseyin A
authors.initials: HA
authors.lastname: Korkmaz
authors.affiliation: Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatrics, Division of Pediatric Endocrinology, Izmir, Turkey.
authors.forename: Korcan
authors.initials: K
authors.lastname: Demir
authors.affiliation: Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Genetics, Izmir, Turkey.
authors.forename: Filiz
authors.initials: F
authors.lastname: Hazan
authors.affiliation: Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatrics, Division of Pediatric Endocrinology, Izmir, Turkey.
authors.forename: Melek
authors.initials: M
authors.lastname: Yıldız
authors.affiliation: Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatrics, Division of Pediatric Endocrinology, Izmir, Turkey.
authors.forename: Özlem N
authors.initials: ÖN
authors.lastname: Elmas
authors.affiliation: Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatrics, Division of Pediatric Endocrinology, Izmir, Turkey.
authors.forename: Behzat
authors.initials: B
authors.lastname: Özkan
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D013771:Tetralogy of Fallot / Q000150:complications*; D014929:Wolfram Syndrome / Q000150:complications*
keywords: DIDMOAD; Fallot tetralogy; Wolfram syndrome