Neurologic manifestations of Chediak-Higashi syndrome include a parkinsonian syndrome and peripheral neuropathy, which usually occur later in the course of disease. The syndrome is characterized by hypopigmentation, recurrent infections, bleeding, and hematological malignancy. Patients typically have light skin, silver-gray hair, photophobia, and solar sensitivity. Long-term survivors typically have slowly progressive weakness, sensory symptoms, clumsy wide-based gait, and diminished deep tendon reflexes.
Sep. 09, 2021