Abstract：
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an extremely rare hereditary cerebral small vessel disease caused by homozygous or compound heterozygous mutations in the gene coding for high-temperature requirement A serine peptidase 1 (HtrA1). Given the rare nature of the disease, delays in diagnosis and misdiagnosis are not uncommon. In this article, we reported the first case of CARASIL from Saudi Arabia with a novel homozygous variant c.1156C>T in exon 7 of the HTRA1 gene. The patient was initially misdiagnosed with primary progressive multiple sclerosis and treated with rituximab. CARASIL should be considered in the differential diagnosis of patients with suspected atypical progressive multiple sclerosis who have additional signs such as premature scalp alopecia and low back pain with diffuse white matter lesions in brain MRI. Genetic testing is important to confirm the diagnosis.
摘要：
伴有皮质下梗塞和白质脑病的常染色体隐性遗传性脑动脉病(CARASIL)是一种极其罕见的遗传性脑小血管病,由编码高温所需丝氨酸肽酶A(HtrA1)基因的纯合或复合杂合突变引起。鉴于这种疾病的罕见性质，延误诊断和误诊并不少见。在这篇文章中,我们报道了第一例来自沙特阿拉伯的CARASIL，在HTRA1基因的外显子7中具有新的纯合变体c.1156C>T。该患者最初被误诊为原发性进行性多发性硬化症，并接受了利妥昔单抗治疗。在鉴别诊断怀疑非典型进行性多发性硬化症的患者时，应考虑CARASIL，这些患者在脑MRI中有其他体征，例如过早的头皮脱发和伴有弥漫性白质病变的腰背痛。基因检测对确诊很重要。
