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

• Published in: Cerebellum (London, England) Vol. 22; no. 5; pp. 1023 - 1025
• Main Authors: Tortora, Mario, Spaccini, Luigina, Lanna, Mariano, Zambon, Marta, Izzo, Giana, Parazzini, Cecilia, Righini, Andrea
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-10-2023; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Cerebellum; Differential diagnosis; Hereditary diseases; Hypoplasia; Letter to the Editor; Magnetic resonance imaging; Neurobiology; Neuroimaging; Neurology; Neurosciences; Phenotypes; Point mutation; Pons
• ISSN: 1473-4230; 1473-4222; 1473-4230
• DOI: 10.1007/s12311-022-01457-6

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.