title: [A case of Möbius syndrome presenting with symptoms of severe infantile form of congenital muscular disorder].
abstract: Möbius syndrome is a rare disorder characterized by congenital bilateral facial nerve palsy. Abducent palsy or other cranial nerve palsy, facial malformations, limb malformations, and skeletal malformations are common features associated with this syndrome. We report a 9-month-old infant in whom congenital muscular disorder was previously suspected because of facial muscle involvement (mask-like face), respiratory and swallowing disturbances, and hypotonia since birth. After an improvement in the respiratory infection, she showed slightly exaggerated deep tendon reflexes and an improvement in muscle tone. The occurrence of combined facial nerve palsy, glossopharyngeal nerve palsy, vagus nerve palsy, and hypoglossal nerve palsy strongly suggested that she had Möbius syndrome. Finally, the absence of the roots of bilateral facial nerves on an MRI confirmed that the disorder was Möbius syndrome. We propose that a thin slice MRI should be obtained to observe the cranial nerves around the brain stem if patients show symptoms of congenital myopathy or congenital myotonic dystrophy as well as facial nerve and other cranial nerve paralyses.
authors.affiliation: Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo.
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Imamura
authors.forename: Yoshinao
authors.initials: Y
authors.lastname: Fujikawa
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakagawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.forename: Noriko
authors.initials: N
authors.lastname: Sato
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
mesh_terms: D001933:Brain Stem / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D020331:Mobius Syndrome / Q000175:diagnosis*; D009223:Myotonic Dystrophy / Q000151:congenital* / Q000175:diagnosis*