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

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

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.

Publication types

  • Letter

MeSH terms

  • Cerebellar Diseases*
  • Cerebellum / abnormalities
  • Cerebellum / diagnostic imaging
  • Endoribonucleases / genetics
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Nervous System Malformations* / diagnosis
  • Olivopontocerebellar Atrophies* / diagnosis
  • Olivopontocerebellar Atrophies* / genetics
  • Pregnancy

Substances

  • TSEN54 protein, human
  • Endoribonucleases

Supplementary concepts

  • Pontocerebellar Hypoplasia