Síndrome de Chediak-Higashi em fase acelerada: um relato de caso
Accelerated Chediak-Higashi syndrome: case report
Aline Mendes; Constantino Giovanni Braga Cartaxo
Resumo
A síndrome de Chediak-Higashi (CHS) é um distúrbio genético autossômico recessivo decorrente de uma mutação no gene regulador do transporte lisossomal (LYST ou CHS1). Os sintomas da síndrome são resultado de alterações funcionais de melanócitos, plaquetas, neutrófilos e células natural killer, e incluem albinismo parcial, fotossensibilidade, infecções recorrentes, principalmente bacterianas, linfocitose hemofagocítica, sangramentos e manifestações neurológicas, como neuropatia central e periférica, perda de sensibilidade, fraqueza muscular, ataxia cerebelar e déficit cognitivo. Aproximadamente 85% dos casos se apresentam como a forma avançada, caracterizada por pancitopenia, hemofagocitose e infiltrado linfocítico em todos os órgãos, determinando falência múltipla dos órgãos. Nesse estudo é relatado o caso de uma paciente diagnosticada com a síndrome aos 8 anos de idade, apresentando a doença já em fase avançada, além de uma rápida revisão bibliográfica sobre a doença em questão.
Palavras-chave
Abstract
Chediak-Higashi syndrome (CHS) is an autosomal recessive genetic disorder caused by a mutation in the lysosomal trafficking regulator gene (LYST or CHS1). Symptoms of the syndrome result from functional abnormalities in melanocytes, platelets, neutrophils and natural killer cells and include partial albinism, photosensitivity, recurrent infections (mainly bacterial), hemophagocytic lymphohistiocytosis, bleeding and neurological manifestations such as central and peripheral neuropathy, loss of sensitivity, muscle weakness, cerebellar ataxia and cognitive deficit. Approximately 85% of the cases present the advanced form, characterized by pancytopenia, hemophagocytosis and lymphocyte infiltration of all organs, determining multiple organ failure. This study reports the case of a patient diagnosed with the syndrome at 8 years of age, already at an advanced stage. A brief review of the literature available on the condition is presented.
Keywords
Referências
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Submetido em:
19/02/2018
Aceito em:
10/03/2018
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