A case of late‐onset Chediak‐Higashi syndrome with progressive gait disturbance and cognitive dysfunction caused by novel variant in LYST gene. Issue 6 (1st October 2020)

• Record Type: Journal Article
• Authors: Nakamura, Takeshi; Koh, Kishin; Takiyama, Yoshihisa; Takahashi, Makio
• Other Names: Takeda Atsushi guestEditor.
• Is Part Of: Neurology and clinical neuroscience. Volume 8:Issue 6(2020:Nov.)
• Page Start: 415
• Page End: 418
• Publication Date: 2020-10-01
• Subjects: ataxia -- Chediak‐Higashi syndrome -- lysosome -- LYST; Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.12446
• Languages: English
• ISSNs: 2049-4173

Abstract

Abstract: 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.