A case of Möbius syndrome presenting with symptoms of severe infantile form of congenital muscular disorder
Imamura, Y.; Fujikawa, Y.; Komaki, H.; Nakagawa, E.; Sugai, K.; Sato, N.; Sasaki, M.
No to Hattatsu 39(1): 59-62
2007
ISSN/ISBN: 0029-0831 PMID: 17228821 Document Number: 614998
Mobius 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 Mobius syndrome. Finally, the absence of the roots of bilateral facial nerves on an MRI confirmed that the disorder was Mobius 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.