Central core disease with family history of malignant hyperthermia: report of one case.
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.
Lee
Inn-Chi
IC
Department of Pediatrics, College of Medicine, Chung-Shan Medical University Hospital, Taichung, Taiwan.
Chen
Yung-Jung
YJ
Fang
Peng-Cheng
PC
D002675:Child, Preschool; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D020512:Myopathy, Central Core / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology