Muscle weakness as presenting symptom of osteogenesis imperfecta.
A young boy presented with severe muscle weakness of his legs at the age of 2 years. Muscle morphology and computer tomography imaging findings were compatible with a metabolic myopathy. Additional investigation showed an osteopenic skeleton and signs of healing fractures. A skin biopsy showed an abnormal electrophoresis pattern of collagen, consistent with a variant of osteogenesis imperfecta. The patient improved with intravenous treatment with pamidronate.
Boot
Annemieke M
AM
Division of Endocrinology, Erasmus MC-Sophia Children's Hospital, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands. a.boot@erasmusmc.nl
de Coo
Rene F M
RF
Pals
Gerard
G
de Muinck Keizer-Schrama
Sabine M P F
SM
D050071:Bone Density Conservation Agents / Q000008:administration & dosage / Q000627:therapeutic use; D002675:Child, Preschool; D004164:Diphosphonates / Q000008:administration & dosage / Q000627:therapeutic use; D004576:Electromyography; D004586:Electrophoresis; D006801:Humans; D007262:Infusions, Intravenous; D008297:Male; D018908:Muscle Weakness / Q000209:etiology*; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D000077268:Pamidronate; D016103:Spinal Fractures / Q000209:etiology
D050071:Bone Density Conservation Agents; D004164:Diphosphonates; D000077268:Pamidronate