Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p129 | (1) | ICCBH2013

Radiographic evidence of rapid healing of vitamin D deficient rickets after 2 weeks of therapy

Stephens Kathryn , Bowden Sasigarn

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 ...

ba0004p115 | (1) | ICCBH2015

Vitamin D and bone mineral density in children with Duchenne muscular dystrophy relation to fractures and ambulation status

Buckner Jason , Bowden Sasigarn

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...

ba0006p128 | (1) | ICCBH2017

Growth and clinical outcome in a 16 year-old male with childhood hypophosphatasia after 1 year therapy with asfotase alfa

Bowden Sasigarn , Adler Brent

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...

ba0002p106 | (1) | ICCBH2013

Acquired hypophosphatemic rickets in a 13-year-old boy presenting with knee pain and valgus deformity

Bowden Sasigarn , Beebe Allan , Wildman Sally

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...

ba0007p136 | (1) | ICCBH2019

Intravenous bisphosphonate treatment in severe infantile hypercalcemia associated with Williams Syndrome

Guarneri Alissa M , Patel Nisha , Bowden Sasigarn A

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 ...

ba0002p26 | (1) | ICCBH2013

Improvement in genu valgus deformity in hypophosphatemic rickets due to primary de Toni-DebrDebré-Fanconi syndrome treated with phosphate, calcitriol and alkali therapy

Bowden Sasigarn , Patel Hiren , Beebe Allan , McBride Kim

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...

ba0002p105 | (1) | ICCBH2013

Bisphosphonate treatment in non-ambulatory patients with spastic quadriplegic cerebral palsy and other neuromuscular disorders: effectiveness of pamidronate vs zoledronic acid

Bowden Sasigarn , Jessup Ashley , Wang Wei , Mahan John

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...

ba0004p27 | (1) | ICCBH2015

Bone mineral density and clinical outcome after intravenous bisphosphonate discontinuation in children with osteogenesis imperfecta

Bowden Sasigarn , Heksch Ryan , Hickey Scott , Mahan John

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...

ba0004p39 | (1) | ICCBH2015

Fracture and bone mineral density outcomes after bisphosphonate discontinuation in children with osteogenesis imperfecta treated with zoledronic acid compared to pamidronate

Heksch Ryan , Bowden Sasigarn , Hickey Scott , Mahan John

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...

ba0006p064 | (1) | ICCBH2017

Extensive periosteal new bone formation secondary to copper deficiency in a 2 year-old boy with arterial tortuosity syndrome

Bowden Sasigarn , Adler Brent , Shaikhkhalil Ala , Hor Kan , McBride Kim , Steingass Katherine

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...