Case report: chediak-higashi syndrome
New Egyptian Journal of Medicine [The]. 2011; 45 (5): 430-432
em Inglês
| IMEMR
| ID: emr-166160
ABSTRACT
Chediak-Higashi Syndrome is a rare inherited autosomal recessive disorder of immune system. Susceptibility to infection due to phagocyte dysfunction ranges from recurrent skin infection to over whelming fatal systemic infection. A three year old boy presented by dark skin all over the body except tiny areas of hypopigmentation. He suffered from repeated attacks of fever, cough, bloody diarrhea. On examination there was severe pallor, grey silver hair, generalized lymphadenopathy and hepatosplenomegaly. His investigations showed pancytopenia and giant lysosomal granules in the cytoplasm of neutrophils and lymphocytes. He received antibiotics for several times but in last episode he looked terminally ill and his parents refused medical advice for admission and took him to home
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Pancitopenia
/
Síndrome de Chediak-Higashi
/
Criança
/
Doenças Linfáticas
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
New Egypt. J. Med.
Ano de publicação:
2011
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