A Case of Chediak-Higashi Syndrome
Journal of the Korean Ophthalmological Society
;
: 879-884, 1995.
Artigo
em Coreano
| WPRIM
| ID: wpr-226984
ABSTRACT
Chediak-Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, photophobia, nystagmus, immunodeficiency with increased susceptibility to bacterial and viral infection. We experienced a 2-year old boy who presents photophobia, hypopigmentation of retinal pigment epithelium, partial cutaneous albinism, systemic findings including recurrent fever and respiratory infection, hepatosplenomegaly and pathognomic giant cytoplasmic granules in peripheral blood cells and bone marrow, and diagnosed it as a Chediak-Higashi syndrome. We present our experience of Chediak-Higashi syndrome with brief review of the literatures related to it.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Células Sanguíneas
/
Medula Óssea
/
Síndrome de Chediak-Higashi
/
Albinismo Oculocutâneo
/
Piebaldismo
/
Hipopigmentação
/
Fotofobia
/
Grânulos Citoplasmáticos
/
Epitélio Pigmentado da Retina
/
Febre
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Ophthalmological Society
Ano de publicação:
1995
Tipo de documento:
Artigo
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