Mobius Syndrome Or Brainstem Dysgenesis : Case Description And Mini Review

Abstract

Background : Mobius syndrome is traditionally know as a non-progressive developmental disorder of cranial nerve nuclei mainly the sixth and the seventh nerves. Recent evidences however suggest that it may have an extended spectrum and a variable course. Objective: To describe various clinical features and pathogenesis of Mobius syndrome. Patients : Clinical profile of three patients with diverse manifestations of Mobius syndrome from a university teaching hospital in South India. Results: The presenting manifestations in the three patients with Mobius syndrome were mono-ocular visual impairment due to ischemic cerebrovascular disease (Patient 1), generalized tonic clonic seizures, delayed speech, bilateral facial, eighth and vagus nerve palsy (Patient 2) and progressive cranial polyneuropathy (Patient 3). Besides disorder of ocular mobility these patients had evidence of multiple morphologic abnormalities viz- polydactyly, high arched palate, clinodactyly, absence of pectoralis major and thoracic scoliosis. CT/MR imaging of the brainstem region were normal. The child with progressive involvement of multiple cranial nerve, and normal imaging of brain particularly posed diagnostic difficulty. Conclusion: Mobius syndrome is perhaps a regional development disorder of the entire brainstem with diverse clinical manifestations, severity and course, depending on the structures involved. Our observation, similar to the other reports, suggest that there is a need to further explore the etiology and pathogenetic link with other morphological abnormalities.