携带有杂合性 HTRA1 相关脑小血管病的患者被误诊为其他疾病：两例病例报告。
Patients with heterozygous HTRA1-related cerebral small vessel disease misdiagnosed with other diseases: Two case reports.
机构信息
Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata city, 951-8585, Japan.
Department of Neurology, Niigata City General Hospital, 463-7 Shumoku, Chuo-ku, Niigata city, 950-1197, Japan; Department of Medical Technology, Graduate School of Health Sciences, Niigata University, 2-746 Asahimachidori, Chuo-ku, Niigata city, 951-8518, Japan.
出版信息
Clin Neurol Neurosurg. 2022 Dec;223:107502. doi: 10.1016/j.clineuro.2022.107502. Epub 2022 Oct 31.
White matter hyperintensities (WMHs) on brain magnetic resonance (MR) images are characteristic of hereditary cerebral small vessel disease (CSVD), including high-temperature requirement serine peptidase A1 (HTRA1)-related CSVD. Although HTRA1-related CSVD is increasingly recognized, the diagnosis is still challenging. We encountered two patients with HTRA1-related CSVD who were misdiagnosed with other diseases, including multiple sclerosis and idiopathic normal-pressure hydrocephalus. Both patients had extended WMHs in addition to multiple lacunes and microbleeds on brain MR images, which are characteristic of CSVD. If lacunes or microbleeds are found in patients with severe WMHs, genetic tests for hereditary CSVD should be considered.
脑磁共振成像上的脑白质高信号（WMHs）是遗传性脑小血管病（CSVD）的特征，包括高温要求丝氨酸肽酶 A1（HTRA1）相关的 CSVD。尽管 HTRA1 相关的 CSVD 越来越受到重视，但诊断仍然具有挑战性。我们遇到了两名 HTRA1 相关 CSVD 患者，他们被误诊为其他疾病，包括多发性硬化症和特发性正常压力脑积水。两名患者的脑磁共振图像上除了多发性腔隙性脑梗死和微出血外，还有广泛的 WMHs，这是 CSVD 的特征。如果在严重 WMHs 的患者中发现腔隙性脑梗死或微出血，应考虑遗传性 CSVD 的基因检测。
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