Chediak-Higashi syndrome

(redirected from Chediak-Steinbrinck-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.

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.

Chédiak-Higashi syndrome

[ched′ē·ak·higä′shē]
Etymology: Moises Chédiak, twentieth-century Cuban physician; Ototaka Higashi, twentieth-century Japanese physician
a congenital autosomal-recessive disorder, characterized by partial albinism, photophobia, pale optic fundi, massive leukocytic inclusions, psychomotor abnormalities, recurrent infections, and early death. Antenatal diagnosis can be made by amniocentesis and tissue culture. Treatment includes antibiotics and transfusions.
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Chédiak-Higashi syndrome: peripheral blood smear

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.

Chediak-Higashi syndrome

an inherited disease in humans, cattle, Aleutian mink, white tigers and killer whales. There is dilution of color in the hair and ciliary processes of the eye, with large granules, believed to be lysosomes, in all cell types and particularly noticeable in circulating neutrophils and eosinophils. Leukocytes are defective in chemotaxis and intracellular killing. Affected individuals suffer from an increased susceptibility to infection and bleeding tendencies caused by a platelet storage defect.