title: The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment.
abstract: Mucolipidosis type III (ML III; McKusick 252600) is a rare lysosomal storage disease in which skeletal involvement is prominent, in particular the destruction of vertebral bodies and the femoral heads. We describe studies in two siblings with ML III that suggest the presence of a distinct metabolic bone disorder. Biochemical indices of bone turnover were increased, and transiliac bone biopsy demonstrated both trabecular osteopenia and marked subperiosteal bone resorption. Intravenous pamidronate treatment given monthly for a year was well tolerated and produced dramatic clinical effects, with reduction in bone pain and improvements in mobility, despite incomplete suppression of bone resorption as assessed by biochemical, radiographic and histological criteria. Bisphosphonate therapy may have an important role in the management of bone pain in ML III, as it does in the related lysosomal disorder of Gaucher disease.
authors.affiliation: Department of Paediatrics, Nelson Hospital, Nelson, New Zealand.
authors.forename: C
authors.initials: C
authors.lastname: Robinson
authors.forename: N
authors.initials: N
authors.lastname: Baker
authors.forename: J
authors.initials: J
authors.lastname: Noble
authors.forename: A
authors.initials: A
authors.lastname: King
authors.forename: G
authors.initials: G
authors.lastname: David
authors.forename: D
authors.initials: D
authors.lastname: Sillence
authors.forename: P
authors.initials: P
authors.lastname: Hofman
authors.forename: T
authors.initials: T
authors.lastname: Cundy
mesh_terms: D015502:Absorptiometry, Photon; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000008:administration & dosage / Q000627:therapeutic use*; D015415:Biomarkers; D015519:Bone Density; D001847:Bone Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D004164:Diphosphonates / Q000008:administration & dosage / Q000627:therapeutic use*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007275:Injections, Intravenous; D007962:Leukocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009081:Mucolipidoses / Q000150:complications*; D010146:Pain / Q000209:etiology; D000077268:Pamidronate
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; D015415:Biomarkers; D004164:Diphosphonates; D000077268:Pamidronate