TSEN54 基因相关性桥小脑发育不良与产前磁共振成像的作用：除了常见的后颅窝囊性畸形。

TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic Malformations.

机构信息

Department of Advanced Biomedical Sciences, Neuroradiology Unit, University "Federico II", Naples, Italy.

Clinical Genetics Unit, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, University of Milan, Milan, Italy.

出版信息

Cerebellum. 2023 Oct;22(5):1023-1025. doi: 10.1007/s12311-022-01457-6. Epub 2022 Aug 12.

DOI:10.1007/s12311-022-01457-6

PMID:35962274

Abstract

Pontocerebellar-hypoplasia (PCH) related to TSEN54-gene mutation, a rare autosomal recessive disorder, can be associated with three different phenotypes: PCH2A, PCH4 and PCH5. Prenatal imaging features are very scant, in particular for PCH4 and PCH5. The aim of this letter is to illustrate key role of prenatal MR imaging in better evaluation of the cerebellar vermis-hemispheres and pons, which may lead to the differential diagnosis between three PCH TSEN54-related phenotypes already at mid-gestation based on the pattern of the degree of involvement of the vermis and the cerebellar cortex respectively.

摘要

与 TSEN54 基因突变相关的桥小脑发育不良（PCH）是一种罕见的常染色体隐性疾病，可表现为三种不同的表型：PCH2A、PCH4 和 PCH5。产前影像学表现非常有限，尤其是对于 PCH4 和 PCH5。本函的目的是说明产前磁共振成像在更好地评估小脑蚓部-半球和脑桥方面的关键作用，这可能导致根据蚓部和小脑皮层受累程度的模式，在妊娠中期就对三种与 PCH TSEN54 相关的表型进行鉴别诊断。