[GACI syndrome: a case report with a neonatal beginning]. / Le syndrome GACI : à propos d'une observation à début néonatal.
Arch Pediatr
; 21(6): 632-6, 2014 Jun.
Article
en Fr
| MEDLINE
| ID: mdl-24768072
ABSTRACT
GACI (generalized arterial calcification of infancy) is a rare autosomal recessive disorder characterized by arterial and periarticular calcifications. Most children die in the first months of life of cardiovascular complications. Hypophosphatemic rickets (HR) resistant to medical treatment may complete the phenotype and is associated with a milder phenotype. This report discusses the case of a girl who presented neonatal ectopic periarticular calcifications with spontaneous regression, and then at the age of 3 years developed HR. There was no clinical improvement after treatment with calcitriol and phosphate, and correction of alkaline phosphatase induced the recurrence of periarticular and tissular calcifications the treatment was reduced and the bone distortion treated by surgery. GACI diagnosis was confirmed by genetic analysis. At the age of 4.5 years, she developed a retinal abnormality and decreased radial pulse these clinical signs are usually observed in pseudoxanthoma elasticum (PXE). It is now established that GACI and PXE belong to the same entity characterized by arterial and tissular calcifications of which this original case report is an illustration.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Calcificación Vascular
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Female
/
Humans
/
Newborn
Idioma:
Fr
Revista:
Arch Pediatr
Año:
2014
Tipo del documento:
Article