About chediak-steinbrinck-higashi syndrome

What is chediak-steinbrinck-higashi syndrome?

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.

What are the symptoms for chediak-steinbrinck-higashi syndrome?

Symptoms of classic CHS include:

  • brown or light-colored hair with a silvery sheen
  • light colored eyes
  • white or grayish skin tone
  • nystagmus (involuntary eye movements)
  • frequent infections in the lungs, skin, and mucous membranes

Other symptoms that infants or young children with CHS may experience are:

  • poor vision
  • photophobia (eyes are sensitive to bright light)
  • slowed mental development
  • blood clotting problems resulting in abnormal Bruising and bleeding

According to a study, roughly 85 percent of children with CHS reach a severe stage called the accelerated phase. Scientists think the accelerated phase is triggered by a viral infection.

During this phase, Abnormal white blood cells divide rapidly and uncontrollably, which can cause:

  • fever
  • abnormal bleeding
  • serious infections
  • organ failure

Older children and adults with late-onset CHS have milder symptoms, less noticeable pigmentation issues, and fewer infections. They may still develop Seizures and nervous system problems that can cause:

  • weakness
  • tremors (involuntary shaking)
  • clumsiness
  • difficulty walking

What are the causes for chediak-steinbrinck-higashi syndrome?

CHS is an inherited condition caused by a defect in the LYST gene (also called the CHS1 gene). The LYST gene gives the body instructions on how to make the protein that’s responsible for transporting certain materials to your lysosomes.

Lysosomesare structures inside some of your cells that break down toxins, destroy bacteria, and recycle worn out cell components. The defect in the LYST gene causes the lysosomes to grow too large. The enlarged lysosomes interfere with normal cell functions. They prevent cells from seeking out and killing bacteria, so your body isn’t able to protect itself from recurring infections.

In pigment cells, abnormally large structures called melanosomes (related to lysosomes) produce and distribute melanin. Melanin is the pigment that gives color to skin, hair, and eyes. People with CHS have albinism because melanin is trapped within the larger cell structures.

Chediak-Higashi is an autosomal recessive inherited disorder. Both parents of a child with this type of genetic disorder carry a copy of the defective gene, but they usually don’t show signs of the condition.

If only one parent passes on the defective gene, the child won’t have the syndrome but may be a carrier. That means they could pass the gene on to their children.

What are the treatments for chediak-steinbrinck-higashi syndrome?

There is no cure for CHS. Treatment consists of managing symptoms.

Antibiotics will treat infections. Corrective eye lenses may be prescribed to improve vision. Bone marrow transplants may help treat defects in the immune system. This procedure is most effective when performed before a person develops the accelerated phase of the disorder.

If your child is in the accelerated phase, your doctor may prescribe antiviral medications and chemotherapy drugs to try to minimize the spread of the defective cells.

Video related to chediak-steinbrinck-higashi syndrome