Literature DB >> 16235689

Hemifacial spasm in a patient with Marfan syndrome and Chiari I malformation. Case report.

John Braca1, Mark Hornyak, Raj Murali.   

Abstract

Marfan syndrome, hemifacial spasm, and Chiari malformation are all relatively rare and seemingly separate entities. Marfan syndrome is caused by a defect in the gene that encodes fibrillin and leads to weakness of the artery wall. Hemifacial spasm results from compression of the facial nerve by an abnormal artery. Chiari malformation is characterized by a small posterior fossa. The authors report the case of a patient with Marfan syndrome who presented with hemifacial spasm and was also found to have a Chiari malformation Type I. The patient's Chiari malformation and hemifacial spasm were successfully treated by performing suboccipital and microvascular decompression surgeries, respectively. The pathophysiological characteristics of Marfan syndrome, hemifacial spasm, and Chiari malformation are discussed, and the authors propose a link between these conditions in this patient. The authors hypothesize that the patient's Marfan syndrome contributed to the abnormal shape of his vertebral artery and that, given the lack of space in his crowded posterior fossa due to the Chiari malformation, the artery caused compression of his facial nerve, resulting in hemifacial spasm.

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Year:  2005        PMID: 16235689     DOI: 10.3171/jns.2005.103.3.0552

Source DB:  PubMed          Journal:  J Neurosurg        ISSN: 0022-3085            Impact factor:   5.115


  5 in total

1.  Clinical diagnosis-part II: what is attributed to Chiari I.

Authors:  Federica Novegno
Journal:  Childs Nerv Syst       Date:  2019-05-15       Impact factor: 1.475

2.  Hemifacial spasm associated with type 1 Chiari malformation: a retrospective study of 13 cases.

Authors:  Ning Li; Wei-Guo Zhao; Chun-Hua Pu; Wen-Lei Yang
Journal:  Neurosurg Rev       Date:  2016-07-15       Impact factor: 3.042

3.  Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.

Authors:  Christina A Markunas; Karen Soldano; Kaitlyn Dunlap; Heidi Cope; Edgar Asiimwe; Jeffrey Stajich; David Enterline; Gerald Grant; Herbert Fuchs; Simon G Gregory; Allison E Ashley-Koch
Journal:  PLoS One       Date:  2013-04-19       Impact factor: 3.240

Review 4.  Trigeminal neuralgia in a patient with Marfan syndrome: case report.

Authors:  Kazuki Sakakura; Hiroyoshi Akutsu; Tetsuya Yamamoto; Yosuke Masuda; Eiichi Ishikawa; Akira Matsumura
Journal:  Neurol Med Chir (Tokyo)       Date:  2013-12-27       Impact factor: 1.742

5.  Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization.

Authors:  Fraser C Henderson; C A Francomano; M Koby; K Tuchman; J Adcock; S Patel
Journal:  Neurosurg Rev       Date:  2019-01-09       Impact factor: 3.042

  5 in total

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