Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)

BACKGROUND: Hemifacial spasms are involuntary contractions of the muscles of one side of the face. CASE REPORT: Here, we report a 5-year-old female patient with a significant past medical history, including mucopolysaccharidosis type VI, who also presented with hemifacial spasms. Further investigati...

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Autores principales: Karir, Aneesh, Geraghty, Michael, Vassilyadi, Michael, Doja, Asif
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026275/
https://www.ncbi.nlm.nih.gov/pubmed/29971196
http://dx.doi.org/10.7916/D8SX7WFQ
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author Karir, Aneesh
Geraghty, Michael
Vassilyadi, Michael
Doja, Asif
author_facet Karir, Aneesh
Geraghty, Michael
Vassilyadi, Michael
Doja, Asif
author_sort Karir, Aneesh
collection PubMed
description BACKGROUND: Hemifacial spasms are involuntary contractions of the muscles of one side of the face. CASE REPORT: Here, we report a 5-year-old female patient with a significant past medical history, including mucopolysaccharidosis type VI, who also presented with hemifacial spasms. Further investigations showed narrowing of skull foramina and hydrocephalus, but no compression of the facial nerve. Carbamazepine was given to the patient, which caused cessation of the spasms. DISCUSSION: Currently, there is no literature discussing the relationship between hemifacial spasms and mucopolysaccharidosis type VI; we have proposed that mucopolysaccharide deposits or dural thickening may contribute to nerve irritation.
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spelling pubmed-60262752018-07-03 Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome) Karir, Aneesh Geraghty, Michael Vassilyadi, Michael Doja, Asif Tremor Other Hyperkinet Mov (N Y) Case Reports BACKGROUND: Hemifacial spasms are involuntary contractions of the muscles of one side of the face. CASE REPORT: Here, we report a 5-year-old female patient with a significant past medical history, including mucopolysaccharidosis type VI, who also presented with hemifacial spasms. Further investigations showed narrowing of skull foramina and hydrocephalus, but no compression of the facial nerve. Carbamazepine was given to the patient, which caused cessation of the spasms. DISCUSSION: Currently, there is no literature discussing the relationship between hemifacial spasms and mucopolysaccharidosis type VI; we have proposed that mucopolysaccharide deposits or dural thickening may contribute to nerve irritation. Columbia University Libraries/Information Services 2018-06-01 /pmc/articles/PMC6026275/ /pubmed/29971196 http://dx.doi.org/10.7916/D8SX7WFQ Text en © 2018 Karir et al. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommerical–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original author and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.
spellingShingle Case Reports
Karir, Aneesh
Geraghty, Michael
Vassilyadi, Michael
Doja, Asif
Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
title Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
title_full Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
title_fullStr Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
title_full_unstemmed Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
title_short Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
title_sort hemifacial spasm in mucopolysaccharidosis type vi (maroteaux–lamy syndrome)
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026275/
https://www.ncbi.nlm.nih.gov/pubmed/29971196
http://dx.doi.org/10.7916/D8SX7WFQ
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AT vassilyadimichael hemifacialspasminmucopolysaccharidosistypevimaroteauxlamysyndrome
AT dojaasif hemifacialspasminmucopolysaccharidosistypevimaroteauxlamysyndrome

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