title: Central core disease with family history of malignant hyperthermia: report of one case.
abstract: A 10-month-old boy presented with gross motor delay and muscle weakness, especially in both lower limbs. At age 5, he developed lordosis, talipes, and planovalgus. His grandmother died of malignant hyperthermia during surgery. On neurological examination, he had mild proximal muscle weakness and atrophy, decreased deep tendon reflexes and Gowers' sign, but his intelligence was normal. The electromyogram showed myopathic pattern. Muscle biopsy revealed type 1 fiber atrophy and central core abnormalities. We report this case of central core disease with a family history of malignant hyperthermia during surgery.
authors.affiliation: Department of Pediatrics, College of Medicine, Chung-Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: Inn-Chi
authors.initials: IC
authors.lastname: Lee
authors.forename: Yung-Jung
authors.initials: YJ
authors.lastname: Chen
authors.forename: Peng-Cheng
authors.initials: PC
authors.lastname: Fang
mesh_terms: D002675:Child, Preschool; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D020512:Myopathy, Central Core / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology