INDIAN PEDIATRICS Chediak-Higashi Syndrome
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چکیده
The Chediak Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by partial oculo-cutaneous albinism, frequent pyogenic infections, presence of giant granules in leucocytes and other granule containing cells(l). To date less than 150 cases have been reported in the world literature. This includes a pregnant lady who delivered a normal child(2). The first case in India was reported in 1982(3). In 85% of the patients who survive their teens, a fatal accelerated phase ensues(l,7).
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Chediak-Higashi Syndrome: A case report
Introduction: Chediak-Higashi syndrome is a rare autosomal recessive disorder that characterized by severe immunodeficiency. It is also associated with a lymphoproliferative disorder termed the accelerated phase with lymphocytic infiltration of the major organ of the body. Case Report: The patients was a 1-year old boy with intermittent fever, anorexia, malaise. On physical examination h...
متن کاملChediak-Higashi syndrome--accelerated phase.
Chediak-Higashi syndrome (CHS), an autosomal recessive defect of polymorphonuclear leucocytic function is characterized by increased susceptibility to pyogenic infections, oculocutaneous albinism, neutropenia and presence of abnormal granules in leucocytes. This rare disorder has been described in approximately 80 cases from world over including three reports from India since its first descript...
متن کاملChediak-Higashi-syndrome cultured fibroblasts
Chediak-Higashi-syndrome cultured skin fibroblasts were used to study the possible involvement of lysosomal enzymes and lysosomal dysfunction in this disorder. Our evidence indicated that Chediak-Higashi fibroblasts displayed a significant decrease in the specific activity of the acidic a-D-mannosidase (pH 4.2) compared with normal controls. Additional studies revealed a small, but significant,...
متن کاملAbnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi Syndrome leukocytes.
Phagocytic, antimicrobial, and metabolic functions were studied in leukocytes obtained from three patients with the Chediak-Higashi syndrome (CHS) and compared to normals, individuals, heterozygous for Chediak-Higashi syndrome, and two subjects with chronic granulomatous disease of childhood (CGD). Chediak-Higashi syndrome leukocytes showed normal ingestion of a variety of bacteria, Candida alb...
متن کاملA Case of Chediak-Higashi Syndrome Presented with Hemophagocytic Lymphohistiocytosis
Chediak Higashi syndrome, is a rare autosomal recessive disorder characterised by oculocutaneus albinism, recurrent respiratory system infections and other pyogenic infections. Hemophagocytic lymphohistiocytosis can develop in any time of the life in patients with Chediak Higashi syndrome. A 14-month-old girl patient was diagnosed as hemophagocytic lymphohistiocytosis with the laboratory findin...
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