Chediak-Higashi Syndrome – What It Is, Symptoms and Treatments

Chediak-Higashi Syndrome  affects not only humans, but also some animal species, such as cattle, white tigers, blue Persian cats, Australian and blue rats, mice, foxes and the albino orca.

Carriers of  Chediak-Higashi Syndrome  have fair skin , silver hair, photophobia and nystagmus. It is also common for patients with Chediak-Higashi Syndrome to  present neutropenia and, consequently, frequent infections involving mucous membranes, skin and respiratory system.

The occurrence of infections in patients with Chediak-Higashi Syndrome puts their lives at risk and, for this reason, individuals with this disorder do not usually reach adulthood.

With the evolution of Chediak-Higashi Syndrome , many children reach the so-called accelerated phase, which is triggered by a viral infection. In this phase, defective leukocytes divide uncontrollably and enter various organs of the body. During this period, patients with Chediak-Higashi Syndrome  usually present with fever, abnormal nosebleeds, recurrent infections and problems in some organs.

Symptoms of Chediak-Higashi Syndrome:  Children with Chediak-Higashi Syndrome  may have:

• Silver hair and eye color (albinism);
• Increased infections in the lungs, skin and mucous membranes;
• Sudden eye movements (nystagmus);
• Infection of affected children with certain viruses, such as the Epstein-Barr virus (EBV) can cause a fatal disease that resembles lymphoma blood cancer.

Other symptoms of Chediak-Higashi Syndrome  may include:

• Decreased vision;
• Intellectual disability;
• Muscle weakness;
• Nerve problems in the extremities (peripheral neuropathy);
• Prone to bleeding or bruising;
• Numbness;
• Tremor;
• seizures
• Sensitivity to bright light (photophobia)
• Unsteady gait (ataxia)

Treatment of Chediak-Higashi Syndrome:  There is no specific treatment for Chediak-Higashi Syndrome , although bone marrow transplants seem to have been successful in some patients, especially when performed in the early stages of the disease.