Department of Neurology, Lapland Central Hospital, Rovaniemi, Finland.
Neurocase. 2021 Feb;27(1):1-7. doi: 10.1080/13554794.2020.1856384. Epub 2020 Dec 9.
Chediak-Higashi syndrome (CHS) is a rare autosomal disorder characterized by immunodeficiency, albinism, and progressive neurologic abnormalities. While survivors of the childhood-onset disease are known to exhibit learning disabilities and neuropsychiatric disorders followed by middle-age dementia, we lack detailed data on the progression. We present the case of a young adult with records from infancy to the first signs of deterioration. An early neuropsychological and neuropsychiatric profiling is crucial to intervention selection as children with CHS may not benefit from regular special education. Our patient never showed neuropsychiatric symptoms but high levels of socioemotional adaptability.
希-阿二氏综合征（CHS）是一种罕见的常染色体疾病，其特征为免疫缺陷、白化病和进行性神经异常。已知儿童期发病的幸存者会出现学习障碍和神经精神障碍，随后是中年痴呆，但我们缺乏疾病进展的详细数据。我们介绍了一位年轻成年人的病例，其病史记录从婴儿期一直延续到首次出现恶化迹象。早期的神经心理学和神经精神病学特征分析对于干预措施的选择至关重要，因为 CHS 患儿可能无法从常规特殊教育中受益。我们的患者从未出现过神经精神症状，但具有较高的社会情感适应能力。
