Das Chediak-Higashi-Syndrom

Abstract

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, high bleeding tendency, and various neurological symptoms. Onset in early childhood mostly leads to lymphohistiocytic infiltration into multiple organs, which is usually lethal without bone marrow transplantation. The adult form of CHS has a milder course, no lymphohistiocytic infiltration, and is characterized by neurological manifestations such as polyneuropathy, parkinsonism, dementia, and ataxia. In young adults, a combination of these defects with oculocutaneous albinism or recurrent infections should bring CHS into consideration. Diagnosis is established by the presence of characteristic eosinophilic peroxidase-positive giant granules in leukocytes. This article summarizes current knowledge about the pathogenesis, clinical course, and therapy of CHS and reports on experience with two adult CHS patients.

Periodontal and other oral manifestations of immunodeficiency diseases

“…NK cell and cytotoxic lymphocyte (CTL) activities are decreased (Al‐Herz et al , ). Disease characteristics of CHS include partial albinism, hepatosplenomegaly, neutropenia, severe recurrent bacterial infections, platelet abnormalities, lymphoma‐like disease, and neurologic problems (Introne et al , ; Ward et al , ; Wolf et al , ; Rezaei et al , ). A majority of patients are likely to experience an ‘accelerated phase’ (hemophagocytic syndrome) of the disease, in which there is a lymphoproliferative surge (uncontrolled proliferation of T cells) into major organ systems that resemble lymphoma.…”

Chediak-Higashi Syndrome Presented as Accelerated Phase in a 3 Year Girl Child: Case Report of a Rare Entity

“…Thrombocytopenia is a common finding and may be the primary mechanism for bleeding tendency in the patient with CHS [5]. Death usually occurs in first decade of life due to recurrent infections, bleeding or development of accelerated lymphoma like phase, but survival up to second and third decades have been reported in few cases [6].…”

“…In accelerated phase, etoposside, steroids and intrathecal methotrexate have been tried [7]. The treatment of choice for CHS is Bone Marrow Transplantation (BMT) from a HLA compatible matched donor [1,6]. CHS patients not submitted to BMT; die at the mean age of 10 years [4].…”