Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child

Radiol Case Rep. 2020 May 1;15(7):867-870. doi: 10.1016/j.radcr.2020.04.015. eCollection 2020 Jul.

Abstract

Rhombencephalosynapsis is a rare defect in the development of the cerebellum, characterized by partial or total agenesis of the vermis, with fusion of the cerebellar hemispheres in the midline. It is usually related to Gómez-López-Hernández Syndrome (cerebellar-trigeminal dermal dysplasia) and VACTERL association association (vertebral defects, vascular anomalies, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, renal dysplasia and limb anomalies). A 5-year-old female patient with spastic cerebral palsy and hydrocephalus presented here, neuroimages documented the next features: absence of cerebellar vermis, periventricular leukomalacia, cerebellar tonsils descent and rhombencephalosynapsis. Other important imaging findings and associations in these cases are discussed.

Keywords: Cerebellar abnormalities; MRI; Malformation; Rhombencephalosynapsis; VACTERL.

Publication types

  • Case Reports