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Neuroimaging Findings in Moebius Sequence.

D A Herrera1, N O Ruge2, M M Florez3

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Moebius sequence, a rare congenital brain malformation, often presents with cranial nerve issues. This study details MRI findings in 38 patients, revealing common brainstem abnormalities like absent facial colliculi and pontine hypoplasia.

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Area of Science:

  • Neurology
  • Radiology
  • Pediatric Neurology

Background:

  • Moebius sequence is a spectrum of congenital brain malformations impacting cranial nerves.
  • Previous neuroimaging findings were limited to case reports or small series.
  • Understanding the spectrum of neuroimaging findings is crucial for diagnosis.

Purpose of the Study:

  • To describe the detailed neuroimaging findings of Moebius sequence using MRI.
  • To analyze a large cohort of patients diagnosed with Moebius syndrome.
  • To correlate imaging findings with potential clinical implications.

Main Methods:

  • Observational cross-sectional study.
  • Retrospective analysis of brain MR imaging.
  • Involved 38 patients with Moebius syndrome between 2013 and 2016.

Main Results:

  • Flattening of the fourth ventricle floor due to absent facial colliculi was universal (100%).
  • Pontine hypoplasia (60.5%) and mesencephalic malformations (39.5%) were common.
  • Supratentorial abnormalities including thalamic fusion and heterotopias were observed in over 25% of patients.

Conclusions:

  • The study confirms previously reported Moebius sequence MRI findings in a larger cohort.
  • Absent facial colliculi and fourth ventricle floor flattening are hallmark features.
  • Associated brainstem, cerebellar, and supratentorial malformations aid in understanding clinical presentations and diagnosis.