Servicios Personalizados
Revista
Articulo
Indicadores
- Citado por SciELO
Links relacionados
- Similares en SciELO
Compartir
Archivos argentinos de pediatría
versión impresa ISSN 0325-0075versión On-line ISSN 1668-3501
Resumen
KORKMAZ, Hüseyin A et al. Association of Wolfram syndrome with Fallot tetralogy in a girl. Arch. argent. pediatr. [online]. 2016, vol.114, n.3, pp.e163-e166. ISSN 0325-0075. http://dx.doi.org/10.5546/aap.2016.e163.
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.
Palabras clave : Wolfram syndrome; Fallot tetralogy; DIDMOAD.