Lipofuscinosis ceroide neuronal tipo juvenil. Enfermedad Spielmeyer - vogt - sjögren - batten. Presentacion de una familia. Juvenile Neuronal Ceroid-lipofuscinoses (Spielmeyer - vogt - sjögren – Batten's Disease). A case report in a family

Authors

  • Jesús Juan Rodríguez Especialista de II Grado en Pediatría y Genética Clínica. Profesor de Pediatría. Hospital Pediátrico Provincial “Pepe Portilla”. Pinar del Río.
  • Felipe Acosta Rodríguez Especialista de I Grado en Oftalmología. Jefe del Servicio Provincial de Retinosis Pigmentaria. Pinar del Río.
  • María H. Simón Cabrera Especialista de I Grado en Imageneología.
  • José Carlos Moreno Domínguez Especialista de I Grado en Oftalmología. Instructor.

Abstract

Se describen por primera vez en Pinar del Río (Cuba), 2 pacientes (varón y hembra), provenientes de una familia sin aparente consanguinidad, que presentaron una enfermedad degenerativa del Sistema Nervioso Central del tipo de la Lipofuscinosis Ceroide Neuronal, forma juvenil, o Enfermedad de Spielmeyer - Vogt - Sjögren - Batten. El modo de aparición en dos hermanos de diferente sexo con padres normales, lo hace compatible con una herencia autosómica recesiva. El diagnóstico se basó en los hallazgos clínicos, electrofisiológicos y ultraestructurales. Se hace énfasis en el estudio morfológico ultraestructural, como criterio confirmatorio y para la clasificación de estas entidades.

DeCS: LIPOFUSCINOSIS CEROIDE NEURONAL/ diagnóstico - genética - ultraestructura, INFORME DE CASO, PINAR DEL RÍO.

 

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How to Cite

1.
Juan Rodríguez J, Acosta Rodríguez F, Simón Cabrera MH, Moreno Domínguez JC. Lipofuscinosis ceroide neuronal tipo juvenil. Enfermedad Spielmeyer - vogt - sjögren - batten. Presentacion de una familia. Juvenile Neuronal Ceroid-lipofuscinoses (Spielmeyer - vogt - sjögren – Batten’s Disease). A case report in a family. Rev Ciencias Médicas [Internet]. 2012 Oct. 2 [cited 2025 Aug. 30];6(2):108-14. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/138

Issue

Vol. 6 No. 2 (2002)

Section

CASE REPORTS

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