Chediak-Higashi syndrome

What is Chediak-Higashi? syndrome?

Chediak-Higashi syndrome is a childhood disorder that interferes with the function of the immune system. Also known as Begnez-Cesar syndrome, White blood cell albinism abnormality or defect in natural killer lymphocytes.

It was first described in 1943 by Dr. Beguez-Cesar.

Who gets Chediak-Higashi syndrome?

Chediak-Higashi syndrome is rare.

  • It is estimated that between 200 and 500 cases have been reported worldwide.
  • the incidence It is the same in men and women.
  • It affects all races, but researchers suspect that its occurrence may be poorly reported.

What causes Chediak-Higashi syndrome?

Chediak-Higashi syndrome is a autosomal recessive condition caused by a mutation about him LIST gene. Often due to parenthood consanguinity. the LIST gene affects the creation and maintenance of storage granules and causes problems with the transport of a protein through cells.

Genetics of Chediak-Higashi syndrome *

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Chediak Higashi syndrome

* Image courtesy of Genetics 4 Medics

What are the clinical symptoms of Chediak-Higashi syndrome?

Signs and symptoms begin to affect children with Chediak-Higashi syndrome shortly after birth or before age five.

  • Oculocutaneous albinism, or hypopigmentation of the hair, eyes and skin; hair is described as light colored with a metallic sheen
  • Prolonged bleeding and easy bruising due to platelet abnormalities
  • Frequent viral bacterial and fungal infections
  • Photosensitivity
  • Nystagmus: abnormal and involuntary eye movements
  • Numbness / tingling in the limbs due to peripheral neuropathy
  • Poor immunity due to abnormal function and the way of natural killer cells

The onset of Chediak-Higashi syndrome in adulthood is associated with milder symptoms. These may include:

  • Jaundice
  • Skin infections
  • Recurrent sinus or respiratory tract infections
  • Enlarged lymph nodes
  • Gum disease (gingivitis)
  • Hyperhidrosis and miliaria
  • Fever without infection.

Chediak-Higashi syndrome complications

Most patients (about 80%) will undergo an accelerated phase of Chediak-Higashi syndrome. This phase is marked by the non-malignant reproduction of white blood cells in multiple organs of the body. This accelerated phase can be precipitate by the presence of a viral infection, and is often fatal if it occurs in childhood. This phase is called hemophagocytic lymphohistiocytosis (HLH).

How is Chediak-Higashi syndrome diagnosed?

The diagnosis of Chediak-Higashi syndrome is made by:

  • White blood cell test to detect the presence of large granules.
  • Light microscopy hair to find pigment agglomeration
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How is Chediak-Higashi syndrome treated?

Treatment for Chediak-Higashi syndrome may include:

  • Cable blood or bone marrow transplant, which is considered the treatment of choice; it is more successful if it is done before a child reaches the accelerated phase of the disease
  • Chemotherapy it is necessary to put hemophagocytosis (the HLH phase) in remission before a transplant can take place
  • Avoid exposure to sunlight and sun protection measures.

What is the prognosis for Chediak-Higashi syndrome?

Without treatment, the prospects for Chediak-Higashi syndrome are poor. About 50-85% of children with this disorder will enter the accelerated phase of HLH. This process is fatal without treatment and most patients will die at the age of 10 years.