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

Aneesh Karir; Michael Geraghty; Michael Vassilyadi; Asif Doja

doi:10.7916/D8SX7WFQ

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

Tremor Other Hyperkinet Mov (N Y). 2018 Jun 1:8:548. doi: 10.7916/D8SX7WFQ. eCollection 2018.

Authors

Aneesh Karir¹, Michael Geraghty^{1

2}, Michael Vassilyadi^{1

3}, Asif Doja^{1

4}

Affiliations

¹ University of Ottawa Faculty of Medicine, Ottawa, ON, Canada.
² Division of Metabolics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
³ Division of Paediatric Neurosurgery, Department of Surgery, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
⁴ Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Abstract

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.

Keywords: Hemifacial spasm; mucopolysaccharidosis type VI.

Publication types

Case Reports

MeSH terms

Anticonvulsants / therapeutic use
Carbamazepine / therapeutic use
Child, Preschool
Female
Head / diagnostic imaging
Hemifacial Spasm / diagnostic imaging
Hemifacial Spasm / drug therapy
Hemifacial Spasm / etiology*
Humans
Mucopolysaccharidosis VI / complications*
Mucopolysaccharidosis VI / diagnostic imaging
Mucopolysaccharidosis VI / drug therapy

Substances

Anticonvulsants
Carbamazepine