Sternocostoclavicular Hyperostosis: Positive Clinical and Radiological Response on Pamidronate

BackgroundSternocostoclavicular hyperostosis (SCCH) is a rare disease, constituting a chronic sterile osteomyelitis with elevated bone turnover in the axial skeleton, causing pain and shoulder dysfunction. SCCH severely interferes with daily activities, work, and quality of life. SCCH has a relapse-remitting disease course, but inflammatory-induced sclerotic transformation in the affected area is slowly progressive. Here we present two patients with clinical and radiological diagnosis of SCCH treated with intravenous pamidronate, leading to clinical remission in both, but complete resolution of sclerosis in one of them, which is a novel finding in our experience.Case PresentationTwo adult female SCCH-patients presented with longstanding pain, swelling of the anterior chest wall, and compromised shoulder function. Subsequent single photon emission computed tomography-computed tomography (SPECT/CT) illustrated elevated bone activity and sclerosis in the SC region, with hyperostosis, confirming the diagnosis of SCCH. As symptoms in both patients were eventually refractory to standard painkillers such as non-steroidal anti-inflammatory drugs (NSAIDs), intravenous pamidronate treatment in 3-month cycles was started. Pamidronate was effective in reducing pain and improving shoulder function and also led to decreased bone turnover on skeletal scintigraphy. Sclerosis in the first patient persisted. In the second patient, however, a complete resolution of sclerosis was observed.ConclusionsSCCH remains a rare bone disorder for which no evidence-based therapies are yet available. While disease burden is high, SCCH lacks recognition and is often diagnosed long after symptomatic presentation. As for the cases in this report, pamidronate was successful in reducing symptoms, and in the second case even led to regression of sclerotic changes on CT-imaging.

Intravenous pamidronate for treatment of osteogenesis imperfecta in Indian children

Osteogenesis imperfecta is characterised by low bone mineral density, bone fragility, fractures and deformity. We present five such children treated with intravenous pamidronate, which resulted in a decrease of fracture rate and increase in spinal bone mineral density.

Severe bilateral Legg-Calvé-Perthes resolved with pamidronate in combination with casts, physiotherapy and adductor tenotomy: a pictorial essay over 11 years

We describe an 11-year prospective clinical and radiologic course of a 6-year-old boy with bilateral Legg-Calvé-Perthes disease, who was treated with intravenous pamidronate (IV-PAM). His baseline radiographs showed grade IV avascular necrosis/Catterall stage IV, and at worst he progressed to lateral pillar/Herring stage C bilaterally. His disease initially was extremely functionally limiting with expected poor outcome with eventual joint replacement. Because IV-PAM stops bone breakdown and allows for ongoing bone formation while revascularisation of bone occurs, we hypothesised that IV-PAM could act as an adjunct to traditional treatment to help heal the femoral heads. Our patient received nine once monthly doses of IV-PAM (1 mg/kg/dose) over 13 months, along with Petrie/broomstick casts and physiotherapy. Remarkably, over time, his femoral heads healed. Now, at 11-year follow-up, he has excellent functional and radiologic outcome with congruence between femoral head and acetabulum, no residual osteonecrosis and minimal loss of femoral head sphericity.

Generalized Arterial Calcification of Infancy

A 33 weeks’ gestation female infant was in significant respiratory distress upon delivery and developed severe hypertension. An echocardiogram revealed biventricular hypertrophy and thickening of the aorta and pulmonary artery. Further imaging demonstrated calcifications in the vessels of the neck, abdomen and extremities and a diagnosis of generalized arterial calcification of infancy was made. She was treated with intravenous pamidronate but continued to deteriorate and died on day-5 of life. The autopsy confirmed heart failure and myocardial infarction as the cause of death. Molecular analysis of the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene revealed compound heterozygous mutations, confirming the diagnosis of generalized arterial calcification of infancy.