Chediak-Higashi syndrome


Chédiak-Higashi syndrome

 a lethal, progressive, autosomal recessive, systemic disorder associated with oculocutaneous albinism, massive leukocyte inclusions (giant lysosomes), histiocytic infiltration of multiple body organs, development of pancytopenia, hepatosplenomegaly, recurrent or persistent bacterial infections, and a possible predisposition to development of malignant lymphoma.

Ché·di·ak-Hi·ga·shi syndrome

(chē'dē-ak hē-gah'shē), [MIM*214500 and MIM*214450] a genetic disorder associated with abnormalities of granulation and nuclear structure of all types of leukocytes and with the presence of peroxidase-positive granules, cytoplasmic inclusions, and Dohle bodies; characterized by hepatosplenomegaly, lymphadenopathy, anemia, neutropenia, partial albinism, nystagmus, photophobia, and susceptibilities to infection and lymphoma; death usually occurs in young animals or during childhood; occurs in mink, cattle, mice, killer whales, and humans; autosomal recessive inheritance, caused by mutation in the Chediak-Higashi gene (CHS) on chromosome 1q. Synonym(s): Béguez César disease, Chédiak-Higashi disease, Chédiak-Steinbrinck-Higashi anomaly, Chédiak-Steinbrinck-Higashi syndrome

Chédiak-Higashi syndrome

(shād′yäk-hĭ-gä′shē)n. A rare autosomal recessive condition caused by dysfunction of cellular lysosomes and characterized by susceptibility to infection, partial albinism, hepatosplenomegaly, pancytopenia, and often lymphoma.

Chediak-Higashi syndrome

Chediak-Higashi-Steinbrink syndrome, hereditary leukomelanopathy Molecular medicine A rare AR condition characterized by giant lysosomes and ↑ susceptibility to infections Clinical Partial albinism, lymphadenopathy, hepatosplenomegaly, debilitating neuropathy, photophobia, purulent infections; without BMT most Pts die by age 3 Lab Giant granules in WBCs and platelets, ↓ chemotaxis, bactericidal activity Management BMT, steroids Prognosis Death by age 10

Ché·d·i·ak-Hi·ga·shi syn·drome

(chā'dē-ahk-hē-gah'shē sin'drōm) A genetic disorder associated with abnormalities of granulation and nuclear structure of all types of leukocytes and with the presence of peroxidase-positive granules, cytoplasmic inclusions, and Dohle bodies; characterized by hepatosplenomegaly, lymphadenopathy, anemia, neutropenia, partial albinism, nystagmus, photophobia, and susceptibilities to infection and lymphoma; death usually occurs in childhood; occurs in mink, cattle, mice, killer whales, and humans; autosomal recessive inheritance, caused by mutation in the Chediak-Higashi gene (CHS) on chromosome 1q.