Biomaterial Database

Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome). 2018

Aneesh Karir, and Michael Geraghty, and Michael Vassilyadi, and Asif Doja

University of Ottawa Faculty of Medicine, Ottawa, ON, Canada.

Hemifacial spasms are involuntary contractions of the muscles of one side of the face. 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. 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.

UI	MeSH Term	Description	Entries
D009087	Mucopolysaccharidosis VI	Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).	Maroteaux-Lamy Syndrome,Polydystrophic Dwarfism,ARSB Deficiency,Arylsulfatase B Deficiency,Mucopolysaccharidosis 6,Mucopolysaccharidosis Type 6,Mucopolysaccharidosis Type VI,N-Acetylgalactosamine-4-Sulfatase Deficiency,ARSB Deficiencies,Arylsulfatase B Deficiencies,Deficiencies, ARSB,Deficiencies, Arylsulfatase B,Deficiencies, N-Acetylgalactosamine-4-Sulfatase,Deficiency, ARSB,Deficiency, Arylsulfatase B,Deficiency, N-Acetylgalactosamine-4-Sulfatase,Dwarfism, Polydystrophic,Maroteaux Lamy Syndrome,N-Acetylgalactosamine-4-Sulfatase Deficiencies,Syndrome, Maroteaux-Lamy,Type 6, Mucopolysaccharidosis,Type VI, Mucopolysaccharidosis
D002220	Carbamazepine	A dibenzazepine that acts as a sodium channel blocker. It is used as an anticonvulsant for the treatment of grand mal and psychomotor or focal SEIZURES. It may also be used in the management of BIPOLAR DISORDER, and has analgesic properties.	Amizepine,Carbamazepine Acetate,Carbamazepine Anhydrous,Carbamazepine Dihydrate,Carbamazepine Hydrochloride,Carbamazepine L-Tartrate (4:1),Carbamazepine Phosphate,Carbamazepine Sulfate (2:1),Carbazepin,Epitol,Finlepsin,Neurotol,Tegretol
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D006257	Head	The upper part of the human body, or the front or upper part of the body of an animal, typically separated from the rest of the body by a neck, and containing the brain, mouth, and sense organs.	Heads
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000927	Anticonvulsants	Drugs used to prevent SEIZURES or reduce their severity.	Anticonvulsant,Anticonvulsant Drug,Anticonvulsive Agent,Anticonvulsive Drug,Antiepileptic,Antiepileptic Agent,Antiepileptic Agents,Antiepileptic Drug,Anticonvulsant Drugs,Anticonvulsive Agents,Anticonvulsive Drugs,Antiepileptic Drugs,Antiepileptics,Agent, Anticonvulsive,Agent, Antiepileptic,Agents, Anticonvulsive,Agents, Antiepileptic,Drug, Anticonvulsant,Drug, Anticonvulsive,Drug, Antiepileptic,Drugs, Anticonvulsant,Drugs, Anticonvulsive,Drugs, Antiepileptic
D019569	Hemifacial Spasm	Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders. (From Adams et al., Principles of Neurology, 6th ed, p1378)	Facial Spasm, Unilateral,Hemifacial Myokymia,Spasm, Hemifacial,Facial Spasms, Unilateral,Hemifacial Spasms,Myokymia, Hemifacial,Spasm, Unilateral Facial,Spasms, Hemifacial,Spasms, Unilateral Facial,Unilateral Facial Spasm,Unilateral Facial Spasms