Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant
Journal
Journal of Inherited Metabolic Disease
Journal Volume
25
Journal Issue
7
Pages
593-595
Date Issued
2002
Author(s)
Abstract
TypeofStudy:A case report describing the successful treatment with Aredia of severe osteogenesis imperfecta (OI) in a newborn infant. Indications:1 patient with severe osteogenesis imperfecta. Patients:One 12-day-old female inpatient. DosageDuration:30 mg/m2 infused monthly for the first 3 months then every 2 months thereafter. Total accumulated dose was 58 mg (11.3 mg/kg per year). Duration: 1 year. AuthorsConclusions:For sick severe OI type III babies as described in this report, early institution of bisphosphonates may be helpful. Results:Serum calcium level was 2.19 mmol/L after the first Aredia infusion. However, she had a generalized seizure 5 days later with serum calcium level of 1.225 mmol/L. Subclinical hypocalcemia was also noted after the second infusion. Her feeding and activity improved gradually. Her right arm recovered after external fixation. At 1 year of age, she was active and stood with support. She was short (body length 59 cm, growth velocity 1 cm/month). Serum calcium was 2.73 mmol/L, phosphate 6.58 mg/dl, ALP 428 U/L, i-PTH 27 pg/ml, and urine calcium/creatinine 1.59. Thickened bone cortex, lessened deformities, and improvement in osteopenia were observed. Intermittent bone growth was also noted. Lumbar spine BMD increased to 0.447 g/cm2 from 0.262 g/cm2 before treatment. AdverseEffects:1 patient had generalized seizure and hypocalcemia. FreeText:The patient was admitted because of deformed arms and legs at birth. She was short (body length 47 cm, less than 10th centile), had shallow orbits, low nasal bridge, blue sclera, and right drop hand. She had multiple fractures, short and deformed long bones with irregular cortex, and generalized osteopenia. Serum total calcium was 2.0 mmol/L, phosphate 8.1 mg/dl, alkaline phosphatase (ALP) 965U/L, intact-parathyroid hormone (i-PTH) 68.3pg/ml, and urine calcium/creatinine 0.08. She ate poorly and cried irritably. Thus Aredia was started. Concomitant medications: vitamin D (400 IU daily) and calcium (300 mg daily). Tests: bone radiography and dual-energy X-ray absorptiometry for bone mineral density (BMD) measurement. Other therapies: external fixation.
SDGs
Other Subjects
alkaline phosphatase; bisphosphonic acid derivative; calcium; calcium derivative; pamidronic acid; parathyroid hormone; phosphate; vitamin D; article; blood chemistry; bone density; bone growth; bone malformation; bone pain; bone radiography; calcium blood level; case report; clinical feature; disease severity; dose response; drug efficacy; female; fracture; fracture external fixation; human; hypocalcemia; infant feeding; newborn; osteoclast; osteogenesis imperfecta; osteopenia; Diphosphonates; Female; Humans; Infant, Newborn; Leg Bones; Osteogenesis Imperfecta
Type
journal article