Central core disease with family history of malignant hyperthermia

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.