A Case of Moebius Syndrome Presenting with Symptoms of Severe Infantile Form of Congenital Muscular Disorder

• Imamura Yoshihiko

  Departments of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders National Center of Neurology and Psychiatry

• Fujikawa Yoshinao

  Departments of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders National Center of Neurology and Psychiatry

• Komaki Hirofumi

  Departments of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders National Center of Neurology and Psychiatry

• Nakagawa Eiji

  Departments of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders National Center of Neurology and Psychiatry

• Sugai Kenji

  Departments of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders National Center of Neurology and Psychiatry

• Sato Noriko

  Departments of Radiology, National Center Hospital for Mental, Nervous and Muscular Disorders National Center of Neurology and Psychiatry

• Sasaki Masayuki

  Departments of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders National Center of Neurology and Psychiatry

Bibliographic Information

Other Title

• 乳児重症型先天性筋疾患が疑われていたＭｏｅｂｉｕｓ症候群の１例

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.

Journal

• NO TO HATATSU

  NO TO HATATSU 39 (1), 59-62, 2007

  THE JAPANESE SOCIETY OF CHILD NEUROLOGY

Keywords

• 顔面神経麻痺
• 嚥下障害
• 先天性筋疾患
• Möbius症候群
• 脳幹部MRI

Details

• CRID: 1390001204552232704
• NII Article ID: 130004183830
• NII Article ID: 10018714496
• NII Book ID: AN0020232X
• DOI: 10.11251/ojjscn1969.39.59
• ISSN: 18847668
• ISSN: 00290831
• Web Site: https://search.jamas.or.jp/link/ui/2007118459
• Text Lang: ja
• Data Source:
  • JaLC
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed