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Chediak-Higashi syndrome (CHS) is a rare autosomal-recessive lysosomal storage disorder caused by mutations of the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. The disease is characterized by partial oculocutaneous albinism, immunodeficiency, peroxidase-positive granules in leukocytes and giant granules in other tissues (e.g., neurons, astrocytes), and neurologic disturbances. There are two distinct clinical patterns. In the childhood form, the hematologic system is affected with immunodeficiency, frequent bacterial infections, and an accelerated lymphoproliferative phase followed by early death. Neurologic signs and symptoms are uncommon.1–3 In the adult form of CHS, which occurs between late childhood and early adulthood, hematologic dysfunction is milder and neurologic signs and symptoms are more prevalent: dementia, pyramidal and spinocerebellar signs and symptoms, peripheral polyneuropathy, and a parkinsonian syndrome.2,3 The pathophysiology of the neurologic manifestations is still unknown.
Case report.
A 22-year-old man was admitted to the Neurology Department because of progressive gait disturbance for 2 years. From childhood he had had …
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