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Rhombencephalosynapsis - isolated anomaly or complex malformation?

Monika Bekiesińska-Figatowska1, Elżbieta Jurkiewicz, Sylwia Szkudlińska-Pawlak

  • 1Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland.

Polish Journal of Radiology
|October 11, 2012
PubMed
Summary

Rhombencephalosynapsis (RES) is a rare posterior fossa malformation. Magnetic resonance imaging (MRI) is effective for diagnosing RES in patients of all ages, including during prenatal development.

Keywords:
congenital anomaliesmagnetic resonance imaging (MRI)rhombencephalosynapsis (RES)

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Area of Science:

  • Neuroscience
  • Pediatric Radiology
  • Medical Imaging

Background:

  • Rhombencephalosynapsis (RES) is a rare congenital malformation of the posterior cranial fossa.
  • It is characterized by the fusion of cerebellar hemispheres, medial cerebellar peduncles, and dentate nuclei.
  • Eight cases were diagnosed over seven years in two pediatric centers, including one prenatal case.

Purpose of the Study:

  • To evaluate the diagnostic utility of magnetic resonance imaging (MRI) for Rhombencephalosynapsis (RES).
  • To characterize the imaging findings of RES across different age groups, including prenatal diagnosis.
  • To assess the association of RES with other central nervous system anomalies.

Main Methods:

  • Brain MRI examinations were performed on 8 patients (1 fetus, 7 children) using 1.5T scanners.
  • The fetal MRI was conducted at 27 and 33 weeks of gestation.
  • Clinical data and imaging findings were reviewed retrospectively.

Main Results:

  • Rhombencephalosynapsis (RES) was diagnosed in 8 patients, with 5 total and 3 partial cases.
  • Associated anomalies included callosal hypoplasia, abnormal gyration, brainstem hypoplasia, isolated fourth ventricle, abnormal white matter signals, dilated extraaxial fluid collections, and syringohydromyelia.
  • In one case, RES was isolated; in another, it was associated only with hydrocephalus.

Conclusions:

  • Rhombencephalosynapsis (RES) exhibits a characteristic appearance on MRI.
  • MRI enables definitive diagnosis of RES across all age groups, including the prenatal period.
  • The study highlights the importance of MRI in identifying RES and its associated malformations.