Leukoencephalopathy with calcifications and cysts: A case report with literature review

被引：1

作者：

Li, Jingya ^{[1
]}

Li, Chun ^{[2
]}

Zhang, Qing ^{[1
]}

Qiu, Chao ^{[1
]}

机构：

[1] Zhejiang Chinese Med Univ, Zhejiang Prov Hosp Chinese Med, Affiliated Hosp 1, Dept Neurol, 54 Youdian Rd, Hangzhou, Zhejiang, Peoples R China

[2] Anji Tradit Chinese Med Hosp, Dept Neurol, 299 Shengli West Rd, Anji Huzhou, Zhejiang, Peoples R China

来源：

NEUROLOGICAL SCIENCES | 2023年 / 44卷 / 08期

关键词：

Leukoencephalopathy; LCC; Calcifications; Cysts; Epilepsy; LATE-ONSET LEUKOENCEPHALOPATHY; BRAIN-BARRIER PERMEABILITY; CEREBRAL CALCIFICATIONS; LABRUNE SYNDROME; CEREBRORETINAL MICROANGIOPATHY; INTRACRANIAL CALCIFICATIONS; SNORD118; MUTATIONS; RARE CAUSE; PATIENT;

D O I：

10.1007/s10072-023-06776-y

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Leukoencephalopathy with calcifications and cysts (LCC; OMIM #614561) is a rare disease and at present there are less than 100 cases reported worldwide. Mutations in the SNORD118 gene is now known to be the cause of LCC. We present a case who was heterozygous for the n.70G>A and n.6C>T sequence variants of the SNORD118 gene, variants which to date have not been described. Compared with the cases that we reviewed, our patient had the second longest time to diagnosis (age 56) from onset of symptoms 40 years prior. Moreover, his cousin's family has a high prevalence of epilepsy. This paper reviewed all published reports to date that had descriptive cases involving LCC as well as testing for the SNORD118 gene. Since 1996 only 85 patients have been described in 59 case reports. In this review, we summarize their clinical features, especially central nervous system symptoms, treatment, pathology, and gene testing results.

引用

页码：2715 / 2729

页数：15

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