SciELO - Scientific Electronic Library Online

 
vol.88 número4Tétanos, una enfermedad vigente en población pediátrica: Reporte de un casoDisplasia cleidocraneal: reporte de un caso índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Revista

Articulo

Indicadores

Links relacionados

  • En proceso de indezaciónCitado por Google
  • No hay articulos similaresSimilares en SciELO
  • En proceso de indezaciónSimilares en Google

Compartir


Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

GONZALEZ-ORTIZ, Cesar Leonardo; JAIMES LEGUIZAMON, Sandra Bibiana  y  CONTRERAS-GARCIA, Gustavo Adolfo. Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report. Rev. chil. pediatr. [online]. 2017, vol.88, n.4, pp.511-516. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062017000400011.

Introduction: Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme dificiencies. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) belongs to the first group, caused by autosomal recessive mutations on PEX7 gene, encoding for PTS2 receptor. The aims of this report are to describe a genetic disease of low prevalence, explaining its main characteristics and the importance of the diagnostic approach and genetic counseling. Case report: 13-month-old male infant with no medical history, family or consanguinity, demonstrate at birth upper limbs shortening. Surgery intervention at seven months old for bilateral cataract. Growth retardation, psychomotor retardation, minor craniofacial anomalies, rhyzomelic shortened upper limbs and lower limbs lesser degree. Punctata calcifications in patella cartilage. Also fatty acid phytanic and pristanic increased levels. Patient dead at age of 3 years. Discussion: RCDP1 is a rare disease, with a prevalence of 1/100,000. Different mutations of PEX7 gene have been described, with variations in phenotype. The treatment is basically symptomatic and depends on the severity of clinical manifestations. The rhizomelic type has poor prognosis, most patients do not survive before the first decade of live. Genetic counseling is essential because it is consider a 25% risk of recurrence.

Palabras clave : Chondrodysplasia punctate; peroxisomal disorders; PEX7 gene; osteochondrodysplasia Introducción.

        · resumen en Español     · texto en Español | Inglés     · Español ( pdf ) | Inglés ( pdf )

 

Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons