Disease Information for Chediak-Higashi syndrome

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Clinical Manifestations
Signs & Symptoms
Paroxysmal Shivering
Rigors/Shaking chills
Teeth Chattering
Uncontrollable Shaking
Excess Sweating Children
Silvery gray hair/child
Lymphadenopathy
Lymphadenopathy Systemic
Hepatosplenomegaly
Palpable Liver/Hepatomegaly
Nystagmus
Localized decreased breath sounds
Splenomegaly
Chills
Photophobia/Light sensitive
Clinical Presentation & Variations
Presentation/Recurrent Infections
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Bleeding time prolonged/platelet count normal (Lab)
Killer lymphocytes decreased (Lab)
Platelets large on smear (Lab)
Platelets, atypical/on smear (Lab)
Abnormal Lab Findings - Decreased
WBC
Neutrophiles (Lab)
WBC/White Blood Cell Count/Leukocytes (Lab)
Abnormal Lab Findings - Increased
Bleeding time, Duke (Lab)
Neutrophiles (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Albinism
Chediak-Higashi syndrome
EBV/B-cell Lymphoproliferative syndrome
Furunculosis
Granulocytopenia/Neutropenia
Hypersplenism
Ocular albinism
Peripheral neuropathy
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Hematologic (category)
CLASS/Leukocyte involvement/disorder (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Chemotaxis failure/phagocytes/effect
Pathophysiology/Decreased natural killer cells
Pathophysiology/Defective leukocyte killing activity
Pathophysiology/Poor slow recovery/ bacteria infection
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Hereditary platelet disorders (ex)
Synonyms
Synonym
anomaly Chediak Higashi, Anomaly or syndrome Chediak Steinbrinck, Anomaly or syndrome Chediak Steinbrinck Higashi, Beguez Cesar disease, Béguez César disease, Chediak Steinbrinck anomaly, Chediak anomaly, Chédiak anomaly, Chediak Higashi, Chediak Higashi anomaly, Chediak Higashi syndrome, Chédiak Higashi syndrome, Chediak Higashi syndrome (disorder), Chédiak Higashi syndrome (disorder), Chediak Higashi syndrome RETIRED, Chediak Steinbrinck anomaly, Chédiak Steinbrinck anomaly, Chediak Steinbrinck Higashi sy, Chediak Steinbrinck Higashi syndrome, CHS, Congenital gigantism of peroxidase granules, Granulation anomaly of leucocytes, Granulation anomaly of leukocytes, Granulation anomaly or syndrome Chediak Steinbrinck, Granulation anomaly or syndrome Chediak Steinbrinck Higashi, Granulocyte anomaly or syndrome Chediak Steinbrinck, Granulocyte anomaly or syndrome Chediak Steinbrinck Higashi, Hereditary gigantism of cytoplasmic organelles, Hereditary leukomelanopathy, Leukocyte granulation anomaly, leukomelanopathy hereditary, Oculocutaneous albinism with leukocyte defect, Steinbrinck anomaly, Syndrome Chediak Higashi, Synonym/Oculocutaneous albinism
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition

A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.-----------------------------------------------------

Chediak Higashi Syndrome

Begnez-Cesar"s Syndrome

CHS

Chediak-Steinbrinck-Higashi Syndrome

Leukocytic Anomaly Albinism

Natural Killer Lymphocytes, Defect in

Oculocutaneous Albinism, Chediak-Higashi Type

Disorder Subdivisions

General Discussion

Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder of childhood (usually) characterized by abnormally pale skin and eyes (oculocutaneous albinism). Because the patient’s white blood cells (leukocytes) are profoundly affected, especially in their capacity to transport cellular proteins, immune disorders are common, along with an increased susceptibility to infections. In addition, CHS patients tend to bruise and bleed easily. Neurological deficits are also common.

CHS is transmitted as an autosomal recessive trait.[nord 2005]

Béguez César"s syndrome

Also known as:

Beguez César-Steinbrinck-Chédiak-Higashi syndrome

Chédiak"s anomaly

Chédiak"s disease

Chédiak-Steinbrinck syndrome

Chédiak-Steinbrinck-Higashi syndrome

Steinbrinck"s anomaly

Chédiak-Higashi syndrome

Synonyms:

Oculocutaneous albinism, leukocyte anomaly-albinism, constitutional granular gigantism.

Associated persons:

Antonio Béguez César

Alexander Moisés Chédiak

Otokata Higashi

W. Steinbrinck

Description:

A multisystem fatal familial metabolic disorder with abnormal granulation of leukocytes and susceptibility to infections. Long list of anomalies and malformations, including partial albinism photophobia, decreased lacrimation, hyperhidrosis, pale optic fundi. Progressive neuropathy with muscle weakness may occur. Occurs in infants; children usually die by the age of 5 to 10. Very rare disease. Inheritance is probably autosomal recessive, and so far it has only been observed almost only in cases of consanguinity of the parents. Etiology unknown. [whonamedit.com 2005]

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External Links Related to Chediak-Higashi syndrome
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NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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