Chediak-Higashi Syndrome

Volume 1 - Issue 1

N Khelafi*, MS Ladj, Y Ferhani, R Belbouab, S Sokhal, A Hadji, N Benali Khodja, N Baghdali and R Boukari

Received: June 17, 2019;   Published: June 27, 2019

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Abstract

Chediak-Higashi syndrome (SCH) is a rare autosomal recessive genetic disorder characterized by oculo-cutaneous albinism, immunodeficiency responsible for recurrent infections, predisposition to bleeding, And late neurological deterioration. The pathognomonic sign is the presence of giant intracytoplasmic granules in most of the cells of the organism but often they are identified in peripheral blood. In 85% of cases, CHS patients develop the accelerated phase characterized by an Hemophagocytic Lymphohistiocytosis syndrome (HLH) responsible for a high mortality rate. The only current effective treatment of haematological and immunological abnormalities remains allogeneic bone marrow transplantation, but without impact on skin manifestations or subsequent neurological deterioration. It is all the more effective as it is performed before the onset of an HLH syndrome.

Abstract| Introduction| Patients and Methods| Results| Discussion| Conclusion| References|