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A case of late‐onset Chediak‐Higashi syndrome with progressive gait disturbance and cognitive dysfunction caused by novel variant in LYST gene
Author(s) -
Nakamura Takeshi,
Koh Kishin,
Takiyama Yoshihisa,
Takahashi Makio
Publication year - 2020
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12446
Subject(s) - medicine , gait disturbance , ataxic gait , gait , cognitive impairment , motor dysfunction , cognition , disturbance (geology) , neuroscience , physical medicine and rehabilitation , psychiatry , disease , ataxia , psychology , paleontology , biology
Chediak‐Higashi syndrome (CHS) is a rare autosomal recessive disease that mostly manifests immunodeficiency, albinism, abnormal bleeding, and other pigmentary abnormalities in childhood. However, the attenuated cases of late‐onset CHS may only express progressive cognitive dysfunction. Herein, we observed a case of late‐onset CHS with progressive gait ataxia, spastic paralysis, cognitive dysfunction, and peripheral neuropathy without any immunological abnormalities or skin depigmentation. Giant granules in neutrophils were identified by Giemsa staining, and genetic analysis showed the presence of a novel homozygous missense variant (c.172 C>G, p. L58V) in LYST gene. To consider late‐onset CHS as a differential neurodegenerative disorder, peripheral blood cytology is necessary to search for lysosomal LYST gene abnormalities.