ABOUT THE DISEASE

This is a rare inherited disorder; affecting mainly the immune and nervous system. It’s an autosomal recessive disease, which means a defective gene is passed from both parents to the offspring. Due to impaired ability to fight off the invading bacteria and viruses, these individuals suffer from repeated infections. They also develop oculocutaneous albinism.

SYMPTOMS

• • Silver hair, light-colored eyes (albinism)
• • Increased infections in the lungs, skin, etc
• • Jerky eye movements (nystagmus)
• • Photophobia
• • Decreased vision
• • Nerve problems/weakness in the limbs
• • Seizures
• • Intellectual disability

If the disease is not successfully treated, many patients develop accelerated phase, associated with fever, episodes of abnormal bleeding, overwhelming infections, and organ failure, and may prove fatal.

CAUSES

The disease is caused by mutation of LYST gene (lysosomal trafficking regulator).

DIAGNOSIS

- Physical examination
- Blood platelet count
- EEG
- EMG
- Genetic test

TREATMENT METHODS

As of now there is no specific treatment, Bone marrow transplant can treat this disease if it is done in early stages of disease. Antibiotics and antiviral drugs may be advised as per need. In some cases surgery is done to drain the abscesses.

You may also like to learn about:

Albinism
Nystagmus
Photophobia
Seizures
Vision impairment
Bleeding disorder