Chédiak–Higashi syndrome

Chédiak–Higashi syndrome
Chédiak–Higashi syndrome is inherited in an autosomal recessive manner
Specialty	Endocrinology

Chédiak–Higashi syndrome

In Chédiak–Higashi syndrome, the lysosomal trafficking regulator (

Most children with Chédiak–Higashi syndrome ultimately reach a stage known as the "accelerated phase", or the "lymphoma-like syndrome", in which defective white blood cells divide uncontrollably and invade many of the body's organs. The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming infections, and organ failure. These medical problems are usually life-threatening in childhood.^{[citation needed]}

Causes

Mutations in the CHS1 gene (also called

In melanocytic cells, LYST gene expression may be regulated by MITF.^[7] Mutations in MITF are known to cause Waardenburg syndrome type 2 and Tietz syndrome, which result in depigmentation and deafness.^{[citation needed]}

Pathophysiology

CHS is a disease causing impaired

Under light microscopy the hairs present evenly distributed, regular melanin granules, larger than those found in normal hairs. Under polarized light microscopy these hairs exhibit a bright and polychromatic refringence pattern.[10]

Clinical findings

There are several manifestations of Chédiak–Higashi syndrome as mentioned above; however, neutropenia seems to be the most common. The syndrome is associated with oculocutaneous albinism. Patients are prone to infections, especially with Staphylococcus aureus, as well as Streptococci.^{[citation needed]}

It is associated with periodontal disease of the deciduous dentition. Associated features include abnormalities in melanocytes (albinism), nerve defects, and bleeding disorders.^{[citation needed]}

Treatment

There is no specific treatment for Chédiak–Higashi syndrome. Bone marrow transplants appear to have been successful in several patients. Infections are treated with antibiotics and abscesses are surgically drained when appropriate. Antiviral drugs such as acyclovir have been tried during the terminal phase of the disease. Cyclophosphamide and prednisone have been tried. Vitamin C therapy has improved immune function and clotting in some patients.^[11]

Eponym

It is named for the Cuban physician and serologist of Lebanese descent Moisés Chédiak Ahuayda^[12] (1903–1993) and the Japanese pediatrician Ototaka Higashi (1883–1981).^[13] It is often spelled without the accent as Chediak–Higashi syndrome.^{[citation needed]}

Other species

It also occurs in

• Griscelli syndrome (also known as "Chédiak–Higashi like syndrome")

References