Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.
Indian J Pathol Microbiol
;
2016 Jan-Mar 59(1): 113-116
Artículo
en Inglés
| IMSEAR
| ID: sea-176649
ABSTRACT
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4‑year‑old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Idioma:
Inglés
Revista:
Indian J Pathol Microbiol
Año:
2016
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS