Síndrome de Chediak-Higashi: relato de caso e revisäo de literatura / Chediak-Higashi syndrome: case report and literature review

Objetivo: Apresentar o caso de paciente parda portadora de síndrome de Chediak-Higashi (SCH). Método: Além dos dados de história clínica e de exame físico a paciente foi submetida a investigação laboratorial para imunodeficiência. Resultados: As principais manifestações clínicas da paciente eram albinismo parcial óculo-cutâneo e infecções de repetição. Os exames laboratoriais revelaram a presença de inclusões intracitoplasmáticas gigantes em leucócitos do sangue periférico e em células precursoras na medula óssea. A avaliação funcional dos leucócitos do sangue periférico foi normal. Quatro meses após o diagnóstico, a criança desenvolveu a fase linfoproliferativa evoluindo para óbito. Conclusões: São discutidas as principais alterações laboratoriais que caracterizam a SCH, tece-se comentários sobre os possíveis fatores etiológicos, bem como os avanços no seu tratamento.

Delayed phagocytosis and bacterial killing in Chediak-Higashi syndrome neutrophils detected by a fluorochrome assay: ultrastructural aspects

The few studies already published about phagocyte functions in Chediak-Higashi syndrome (CHS) has stated that neutrophils present slow rate of bacterial killing but normally ingest microorganisms. In the present study, both phagocytosis and killing of Staphylococcus aureus were verified to be in neutrophils from two patients with CHS when these functions were simultaneously evaluated by a fluorochrome phagocytosis assay. Electron microscopic examination showed morphologic differences among neutophils from CHS patients and normal neutrophils regarding the cytoplasmic structures and the aspects of the phagolysosomes. It was noteworthy the presence of giant phagolysosomes enclosing bacteria in active proliferation commonly observed in CHS neutrophils after 45 min of phagocytosis, wich corresponded with the impaired bactericidal activity of these leukocytes. The present results suggest that phagocytosis may also be defective in CHS, and point out to the sensitivity of the fluorochrome phagocytosis assay and its application in clinical laboratories