Rhombencephalosynapsis: A Rare Hindbrain Malformation.
Cureus
; 16(7): e65400, 2024 Jul.
Article
en En
| MEDLINE
| ID: mdl-39184610
ABSTRACT
Rhombencephalosynapsis (RES) is a rare condition found in the pediatric population. It occurs due to a fundamental failure of vermian differentiation caused by faulty gene expression in the earliest patterning areas of the brain between days 28 and 41 of gestation, resulting in a fused cerebellum. This report aims to discuss cases of this rare hindbrain malformation, identify its features on MRI, diagnose any associated anomalies, classify it based on severity, and study its syndromic associations. We report two rare cases of RES in patients presenting with complaints of ataxia, global motor developmental delay, hypotonia, and dysarthria, who underwent an MRI of the brain.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Cureus
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Estados Unidos