Related Experiment Videos
[The Griscelli-Prunieras syndrome: a case report]
A N Salazar-Cabrera1, M Matos-Martínez, M C Sánchez-Villegas
1Servicio de Medicina Interna Pediátrica, Hospital General, México, D.F.
Boletin Medico Del Hospital Infantil De Mexico
|July 1, 1993
Summary
Griscelli-Prunieras syndrome, a rare genetic disorder, was diagnosed in a child with partial albinism and immune dysfunction. This case highlights the syndrome
Area of Science:
- Genetics
- Immunology
- Pediatrics
Background:
- Griscelli-Prunieras syndrome is a rare autosomal recessive disorder.
- It is characterized by partial albinism and defects in lysosome-related organelle transport.
- Patients often present with partial albinism, primary immunodeficiency, and neurological abnormalities.