Which specialist consultations are beneficial to patients with Chédiak-Higashi syndrome (CHS)?

Updated: Aug 08, 2019
  • Author: Roman J Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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A neurologist should be consulted. Neurologic involvement, such as loss of deep tendon reflexes due to peripheral neuropathy, cerebellar ataxia, intellectual impairment, nystagmus, and the Babinski sign, is often observed in the course of CHS.

Hematologist consultation is necessary because the accelerated phase resembles lymphoma. Allogenic bone marrow or stem cell transplantation is the treatment of choice to correct the hematologic manifestation of the disease.

Ophthalmologists should be aware that progressive visual loss and the constriction of visual field can occur in patients with CHS as they grow older. [24]

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