Chediak-Higashi syndrome: case report in afro-descendant individual

Abstract

This is a Chediak-Higashi Syndrome (CHS) case report in afro-descendant individual, male, 3 months old, born from consanguineous union. On admission he had fever for a month, unresolved pneumonia, and hepatosplenomegaly. He evolved to bacterial sepsis, septic shock, and death. CHS presents quantitative and morphological and hematological changes. Abnormal leukocyte inclusions are the pathognomonic finding of the disease; its recognition and differentiation from other leukocyte inclusions is essential for diagnosis and institution of therapy. Early diagnosis of CHS increases the life expectancy of the individual and provides appropriate therapeutic approach for patients affected by the disease.

Fase acelerada da síndrome de Chediak-Higashi

“…A SCH é considerada rara em indivíduos afrodescendentes. 1 A disfunção melanocítica ocular e em pele é responsável pelo aparecimento de albinismo óculocutâneo nesses pacientes (Figura 2). Disfunção plaquetária, levando a sangramentos recorrentes e evolução com sintomas neurológicos também são comuns 2 .…”

“…A síndrome de Chediak-Higashi (SCH) é uma patologia rara de herança autossômica recessiva ocasionada por uma série de mutações genéticas, sendo a principal delas a do gene regulador do tráfego lisossomal (do inglês lysosomal trafficking regulator -LYST) 1,2 . Os sujeitos acometidos apresentam disfunção fagocitária primária, aumento na recorrência de infecções, além de dermatologicamente serem notados diferentes graus de albinismo oculocutâneo 1 .…”

Clinical aspects and main diagnostic methods of Chediak-Higashi Syndrome

“…CHS symptoms are clear, occurring soon after birth or in the course of childhood, in children under 5 years of age 8,9 , as a result of changes in the function of neutrophils, natural killer (NK) cells, platelets, and melanocytes 5 . It is a multisystem disease in which severe immunological defects are presentmainly in neutrophils 10 -, which allows the classification of the disease as primary immunodeficiency 11 .…”

“…Death commonly results from hemophagocytic lymphohistiocytosis (HLH) 2 , which corresponds to the accelerated phase of the disease and affects about 85% of cases, being generally fatal 1,12 , from infections 2 , which predominantly affect the respiratory tract, gastrointestinal tract, and skin 8 , with their etiology including Staphylococcus aureus and beta-hemolytic Streptococcus 3,4 , and from bleeding 2 . The diagnosis is often established at 5 years of age 5,11 , but it is possible to confirm it during the prenatal period 12 .…”

“…CHS has a low frequency in Black people and a higher occurrence rate in children of consanguineous parents 11 . By the year 2017, there were fewer than 500 known reports around the world 3 .…”