Chediak-higashi syndrome presenting in accelerated phase
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2012; 22 (8): 539-541
em Inglês
| IMEMR
| ID: emr-132212
ABSTRACT
Chediak-Higashi Syndrome [CHS] is a rare autosomal recessive disorder, characterized by silver hair, recurrent infections, partial oculo-cutaneous albinism, mild coagulation defect and progressive neuropathy. The characteristic feature of CHS is the presence of huge lysosomes and cytoplasmic inclusions within different body cells like the white blood cells. The disease has an early onset but usually presents in an accelerated phase. We present a case of a 2 years old boy with high grade fever, bilateral cervical lymphadenopathy, hepatosplenomegaly, abdominal distention of 28 days duration. He was diagnosed with Chediak-Higashi syndrome in accelerated phase on the basis of clinical presentation, morphological findings on peripheral blood film and bone marrow aspirate
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Índice:
IMEMR (Mediterrâneo Oriental)
Idioma:
Inglês
Revista:
J. Coll. Physicians Surg. Pak.
Ano de publicação:
2012
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