Moebius syndrome and hydrosyringomyelia: description of a new association

J Child Neurol. 2013 Jun;28(6):801-4. doi: 10.1177/0883073812450946. Epub 2012 Jul 25.

Abstract

The diagnosis of Moebius syndrome, a rare congenital disorder, is primarily based on congenital facial and abducent nerve palsy. Involvement of other cranial nerves is also common. Occasionally the V, X, XI, and XII cranial nerves are involved, resulting in a difficulty to chew, swallow, and cough, which often leads to respiratory complications. Mental retardation and autism have been reported in some cases. Moebius syndrome can be associated with orofacial anomalies and limb malformations. The authors describe a patient with a confirmed diagnosis of Moebius syndrome associated with hydrosyringomyelia. No case of Moebius syndrome involving primarily the spinal cord has been reported so far. This patient did not present with other factors directly linked to syringomyelia.

Keywords: Moebius syndrome; abducent; children; cranial nerves; facial; hydrosyringomyelia.

Publication types

  • Case Reports

MeSH terms

  • Abducens Nerve / abnormalities
  • Abducens Nerve / pathology
  • Brain / pathology
  • Cervical Vertebrae / pathology
  • Child, Preschool
  • Diagnosis, Differential
  • Facial Nerve / abnormalities
  • Facial Nerve / pathology
  • Female
  • Humans
  • Karyotyping
  • Magnetic Resonance Imaging
  • Mobius Syndrome / diagnosis*
  • Mobius Syndrome / genetics
  • Neurologic Examination
  • Spinal Cord / pathology
  • Syringomyelia / diagnosis*
  • Syringomyelia / genetics
  • Thoracic Vertebrae / pathology