Bone Abstracts

Background: Following supplementation with adequate vitamin D and calcium, healing of vitamin D deficient rickets has generally been demonstrated on radiographic films 3–6 months following the initiation of therapy. However, we report a case that demonstrates radiographic evidence of rapid healing of vitamin D deficient rickets in only 2 weeks after starting therapy.Presenting problem: An 8-month-old African American male presented to the emergency ...

Objectives: To evaluate vitamin D and bone mineral density (BMD) status in children with Duchene muscular dystrophy (DMD) in relation to fractures and ambulation status using gross motor scale function classification system (GMFCS).Methods: Clinical data of 53 DMD patients (mean age 12.1 years, range 4.9–19.6) at the first visit to the Endocrine/Bone Clinic at Nationwide Children’s Hospital were retrospectively studied. The patients were strati...

Background: Asfotase alfa therapy improves clinical outcome in young children with severe form of hypophosphatasia (HPP). Treatment outcome in older children (≥12 years) has not been reported.Presenting problem: We report clinical outcome of a 16 year-old male with childhood HPP who started enzyme therapy at age 15 years.Clinical management: The patient was diagnosed with HPP at age 2 years when he presented with premature lo...

Background: Hypophosphatemic rickets commonly presents in early childhood as inherited disorders. Acquired hypophosphatemic rickets or osteomalacia is a rare condition in children caused by paraneoplastic production of phosphaturic factor or FGF23 and is called tumor-induced rickets or osteomalacia. Localization of tumor is important as hypophosphatemic rickets completely resolves after resection of tumor.Presenting problem: We present a challenging case...

Background: Infantile hypercalcemia occurs in ~15% of patients with Williams Syndrome (WS) and is typically mild. Severe hypercalcemia has been reported in infants/toddlers with WS, requiring treatment with intravenous (IV) saline hydration, furosemide, calcitonin, calcium and vitamin D restriction, and in some cases IV bisphosphonates.Presenting problem: Three cases of infants with WS age 9–13 months presented with severe hypercalcemia, failure to ...

Background: Primary de Toni-Debré-Fanconi syndrome is a metabolic disorder characterized by hypophosphatemic rickets or osteomalacia, renal tubular acidosis, renal glycosuria, generalized aminoaciduria. It is a non-FGF23-mediated hypophosphatemic disorder, with primary defect in proximal tubular dysfunction. The orthopaedic sequela of this rare disorder in the literature is scarce.Presenting problem: We present a clinical case of a 10-year-old femal...

Objectives: To examine the bone mineral density (BMD) response to i.v. pamidronate (Group 1) vs i.v. zoledronic acid (Group 2) in non-ambulatory children and young adults with severe cerebral palsy or other neuromuscular disorders.Methods: A total of 50 non-ambulatory children and young adults, (mean age 11.3 years, range 2.1–32) with low BMD and/or history of fractures were retrospectively studied. Thirty-nine patients (30 spastic quadriplegic cere...

Objectives: i) To evaluate the bone mineral density (BMD), and clinical outcomes of intravenous bisphosphonate treatment (IVT) and after treatment discontinuation in children with osteogenesis imperfecta (OI). ii) To compare the clinical outcome of those who discontinued IVT and those who had progressed from IVT to maintenance oral bisphosphonate therapy.Methods: A retrospective study was conducted on 28 children with OI who had discontinued IVT (21 pami...

Objectives: Cyclical intravenous pamidronate (PAM) and zoledronic acid (ZOL) increases bone mineral density (BMD) and reduces fractures in children with osteogenesis imperfecta (OI). The aims of this study were to evaluate fracture and BMD outcomes after treatment discontinuation in children with OI treated with ZOL compared to PAM.Methods: 21 patients (mean age 5.1±3.8 years) received PAM (1 mg/kg per day x 3 days q 3 months for the first year). Se...

Background: Periosteal reaction can be a manifestation of various underlying medical conditions, including tumor, infection, trauma, metabolic or genetic diseases.Presenting problem: A 2 year-old male presented for evaluation of periosteal bone formation in symmetrical distribution of proximal humerus, radius, ulnar, femur, and clavicles, noted after having persistent fussiness, irritability and inability to bear weight and use arms for 3 weeks. He had a...