Chediak-Higashi syndrome

(redirected from Chediak-Steinbrinck-Higashi anomaly)

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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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.
Farlex Partner Medical Dictionary © Farlex 2012

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.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
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