Clinical Cases in Mineral and Bone Metabolism

Introduction: The nonunion rate has been reported between 0.1% and 15%. There are also several predisposing factors for the onset of complications: general factors connected with the patient and specific factors related to the fracture site. The purpose of our study is to review the etiology of nonunion of the clavicle in its atrophic form and investigate the outcomes of the revision treatment in a single step. Materials and methods: Retrospective study on 71 patients suffering from nonunions due to the following treatments: conservative in 13 patients; plate fixation in 12; closed reduction and fixation with K-wire in 24; open reduction and fixation with K-wire...

Atypical femoral fracture (AFF) has been widely issued since the American Society for Bone and Mineral Research (ASBMR) taskforce stated a possible association with long-term use of bisphosphonate in 2010. ASBMR taskforce recommended to include Paget's disease as one of variables to investigate the AFF in 2010. On the other hand, the ASBMR taskforce in 2014 excluded Paget's disease in the definition of AFF. Still, any rationale has been barely documented about this change. We described the rationale by reporting an 85-year-old man who had a subtrochanteric fracture with features of atypical femoral fracture which turned out to be Paget's disease of bone in the pathology...

INTRODUCTION: Radiofrequency ablation is an effective modality in treating osteoid osteoma while avoiding the complications of an open procedure. Its complications are usually self-limited consisting mostly of local skin burns. This report presents a major complication, a femur shaft fracture following an osteoid osteoma radiofrequency ablation. The fracture occurred approximately one year after the ablation at the site of the osteoid osteoma. DISCUSSION: Few case reports have been published regarding subtrochanteric femur fracture after ablation of an osteoid osteoma...

Many tumors that occasionally are benign in origin causes hypophosphatemic osteomalacia. Here we present a case of glomus tumor in a 59-year-old man with oncogenic osteomalacia. Diagnosis was made after observation of abnormal increase activity in octreotide scan. The magnetic resonance imaging showed a round lesion in left ankle joint. Surgical excision of tumor was curative and all symptoms and intractable hypophosphatemia improved after few weeks.

Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disease. Children present within the first 6 months of life and more commonly in the first few weeks. Common presentation is poor feeding, polyuria, dehydration, lethargy, failure to thrive, hypotonia, gastrointestinal dysmotility, osteopenia and symptoms of respiratory distress due to a poorly developed chest cage. We present a case of a 2-month old girl with severe hypercalcemia and hyperparathyroidism. She was found to have a novel homozygous mutation in the acceptor splicing site of intron 4 (c...

Case: A clinical case of a 15-year-old cerebral palsy child with a Sandhu type 2 neglected femoral neck fracture is presented. The patient was treated using cannulated screws and cancellous bone graft augmented with mesenchymal stem cells. At 6 months after the surgery complete fracture healing was observed. Conclusion: To early diagnose this fractures, it is mandatory to perform a comprehensive clinical and radiological evaluation including also a second level imaging...

OBJECTIVE: The purpose of this report is to investigate the role and efficiency of the intra-ligamentary injection of vitamin D and calcium in the treatment of chronic periodontitis associated with hypothyroidism. DESIGN: A 43-year-old female with suspected hypothyroidism who revealed severe chronic periodontitis with grade III mobility. Pre-operative periodontal and systemic control preceded the used intervention. After 3 months, intra-ligamentary injectable vitamin D with calcium was introduced...

Introduction: Osteoporosis is a systemic disease of the skeleton characterized by a reduction in bone mass and alterations in microarchitecture accompanied by increase in fracture risk, with a relevant decline in quality of life and important social, economic, and health implications, representing one of the most common causes of disability and a major financial item of health cost in many Countries. The best therapy for osteoporosis is prevention, consisting in measures to avoid or slow the onset of the disease...

Background: Fractures of the proximal part of the humerus represent almost 4-5% of all fractures. The rate of non union is estimated to be 1.1 to 10%. Non union, displacement, and fixation failure can be hazardous complications for these injuries. The purpose of our study was to evaluate the outcomes of plate and bone strut allograft with bone chips grafting augmentation in the management of proximal humeral aseptic non union. Methods: We treated 16 aseptic non union proximal humeral fractures by the medial humeral shaft bone strut allograft and lateral plate and screws with bone chips grafting...

Osteoporotic fractures are associated with a significant increase in morbidity, mortality and medical costs. There is also a strong link between fractures and increased mortality. Among effective measures for the prevention of falls, instability treatment surely plays a crucial role. Several factors contribute to instability, many of which are ageing-related: visual spatial deficit, strength reduction, weight imbalance with COP lateralization sometimes favoured by LLD (leg length discrepancy). It seems useful to detect an heterometry which could be corrected, if present...

The complete repair of periodontal structures remains an exciting challenge that prompts researchers to develop new treatments to restore the periodontium. Recent research has suggested strontium ion to be an attractive candidate to improve osteogenic activity. In this study, we have isolated a clonal finite cell line derived from human periodontal ligament (PDL) in order to assess whether and in which way different doses of SrCl2 (from 0.5 to 500 μg/ml) can influence both the proliferation and the mineralization process, for future application in oral diseases...

Juvenile Paget's disease (JPD) is a rare, autosomal recessive disorder featuring markedly increased serum alkaline phosphatase activity, indicative of greatly accelerated bone turnover throughout the skeleton. The main aim of this study was to evaluate circulating periostin and sclerostin levels in two adult patients with mild JPD (due to "Balkan" mutation). We measured periostin and sclerostin levels in a previously described woman and a newly diagnosed man with JPD, and 10 apparently healthy individuals, matched (1:5) to JPD patients for gender, age and body mass index...

A schwannoma is a rare, benign tumor originating from Schwann cells of peripheral nerve sheath. It commonly occurs in subjects between 20 and 50 years of age, and its malignant transformation is exceptional. While schwannomas usually affect the head and neck region, localization in the lower extremity is exceptionally rare, and even fewer cases have described schwannomas occurring in the foot. We report a case of a giant schwannoma of the foot diagnosed in a 65-year-old woman. A giant schwannoma of the foot is an extremely rare soft tissue tumor...

Hydatidosis is a zoonotic disease; human infection occurs through the consumption of food and water contaminated with the eggs of parasites of the Echinococcus type. While the liver is the most common site of infection, involvement of the musculoskeletal system is extremely rare. In the context of musculoskeletal involvement, the spine is the most commonly infected site, while the muscles are rarely infected and account for approximately <1% of cases. It has been suggested that muscles provide an unsuitable environment for the parasite, because of the presence of lactic acid...

Spondylocarpotarsal synostosis is a very rare skeletal disorder characterized by vertebral malsegmentation defects. Apart from severe vertebral defects, the disease is associated with carpal and tarsal synostosis which is quite characteristic for the disease. We report a case of young child who presented with short stature and congenital scoliosis. The radiological and clinical findings were compatible with the above diagnosis. Apart from the classical findings, the patient had evidence of odontoid aplasia which has not earlier been described in association with this disorder...

Wolfram Syndrome (WS) is a rare and lethal disease characterized by optic atrophy, diabetes mellitus, diabetes insipidus, and hearing loss. To date, osteoporotic related fractures have not been reported in affected patients. Here, we describe the case of a man affected by WS complicated by several bone fragility fractures. A 50-year-old Caucasian man was hospitalized because of tibia and fibula fractures. His clinical features included diabetes mellitus, diabetes insipidus, optic atrophy and deafness that were consistent with an unrecognized WS diagnosis, which was confirmed by the identification of a specific mutation in gene WFS1 encoding wolframin...

Gorham-Stout disease - also called vanishing bone syndrome - is a rare bone disease characterized by a progressive intra-osseous proliferation of non-neoplastic vascular tissue resulting in massive osteolysis. Here, we report two clinical cases of Gorham-Stout disease. Case 1: a 56-year-old woman with 20 years of history of pain and swell in elbows, ankles and wrist. Then she was diagnosed as systemic lupus erythematosus (SLE) with glomerulonephritis type III. After other pathologies were ruled out Gorham-Stout disease was diagnosed...

We report a case of a 54-year-old HIV-negative female who presented with a 2-month history of ongoing post meridiem low-level fever and new onset progressive paralysis. On MRI (magnetic resonance imaging), an infiltrative enhancing lesion was noted, which initially resembled that of MS, but she reacted not sensitively with immunosuppressive therapy, we performed a brain biopsy to her, it turned out to be primary CNS (central nervous system) diffuse large B-cell lymphoma (DLBCL). And the morphology, the flow cytometric findings were consistent with germinal center B-like diffuse large B-cell lymphoma...

Primary Hyperparathyroidism is asymptomatic in most patients (PHPT). We report a case of PHPT in a young male patient. He presented with severe pancreatitis due to hypercalcemia and multiple bone lesions resulting in pathological fractures. The patients recovered rapidly after parathyroidectomy.

Introduction: Solitary infantile myofibromatosis (IM) of bone is a rare benign osseous tumor of childhood with low rate of recurrence. Well documented within the multicenter form, its solitary intraosseous location is less well described. Case report: We present a rare case of intraosseous myofibromatosis arising the iliac bone of a 11-year-old girl, who was operated at 2 months of life for a retroauricular subcutaneous MF with unbalanced translocation t(9;16). She presented with a limping associated to a stiffness of the hip without pain...