Symptoms & Signs
Children with this condition may have:
- Albinism — silvery sheen to the hair, light-colored eyes
- Increased infections in the lungs, skin, and mucous membranes
- Jerky eye movements (nystagmus)
Infection of affected children with certain viruses, such as Epstein-Barr virus (EBV), can cause a deadly illness resembling the blood cancer lymphoma.
Other symptoms may include:
- Decreased vision
- Mental retardation
- Muscle weakness
- Nerve problems in the limbs (peripheral neuropathy)
- Nosebleeds or easy bruising
- Numbness
- Tremor
- Seizures
- Sensitivity to bright light (photophobia)
- Unsteady walking (ataxia)
Diagnosis & Tests
The doctor will perform a physical exam. Examination may show signs of a swollen spleen or liver or jaundice.
A blood smear shows giant granules in the white blood cells. Giant granules are also found in cells from biopsy of skin, muscle, and nerves.
Blood platelet or white blood cell counts are abnormally low. Genetic testing may show mutations in the CHS1 gene.
EEG may show seizures. Brain MRI or CT scan may show small brain due to atrophy.
EMG or nerve conduction velocity testing may show delayed nerve signaling. There may be decreased color (pigmentation) seen in the front and back of the eye.
Review Date : 8/26/2009
Reviewed By : Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
