Bruck syndrome: A rare case presentation with isolated lower extremity contractures and multiple postoperative peri-implant fractures

Bruck syndrome, characterized by congenital brittle bones and multiple joint contractures, is a rare variant of osteogenesis imperfecta. Here, we report the case of a 7-year-old male patient who presented with a fractured shaft of the femur following trivial trauma. He was diagnosed case of arthrogryposis multiplex congenital with deformities involving both knees and ankle. He had a history of bilateral femoral fractures during birth. Due to the knee contracture and a narrow canal, we fixed the fracture by plating. However, the patient developed peri-implant fractures proximal to the plate. Due to the presence of multiple peri-implant fractures and joint contractures, we diagnosed the patient with Bruck’s syndrome and initiated intravenous bisphosphonate therapy. Subsequently, the patient developed one more fracture in the contralateral femur. This case signifies the importance of screening all patients with multiple congenital contractures and recurrent fractures for Bruck syndrome.

Are Non-Coding RNAs Useful Biomarkers in Parathyroid Tumorigenesis?

Tumors of the parathyroid glands are common endocrine diseases almost always characterized by parathyroid hormone hypersecretion that determines the clinical manifestations of primary hyperparathyroidism, such as fatigue, kidney problems, weakness, brittle bones, and other symptoms. Most parathyroid neoplasia are benign adenomas, although rare malignant forms have been described. They are heterogeneous in terms of clinical presentation and the associated signs and symptoms overlap with those of disease and aging. Furthermore, most patients with hypercalcemia are discovered during routine blood tests for other reasons. Surgical removal is considered the main therapeutic option to cure these endocrine tumors and, therefore, innovative therapeutic approaches are actively required. Recently, a growing number of studies have suggested that alterations to the epigenetic mechanisms could play a pivotal role in parathyroid tumorigenesis. Most of the attention has been focused on non-coding RNAs (ncRNAs) (i.e., miRNAs, lncRNAs, and circRNAs) whose expression profile has been found to be deregulated in parathyroid tumors. The aim of the present paper is to give an insight into the ncRNAs involved in parathyroid tumorigenesis, which could be used in the future either as innovative diagnostic biomarkers or as therapeutic targets for the treatment of this endocrine neoplasia.

Translational Research in Osteogenesis Imperfecta and Cell Therapy

On 6 and 7 of February 2019, Center for Stem cell Research (CSCR) and Pediatric orthopedic Unit at Christian Medical College (CMC), Vellore, conducted a meet on Translational Research in Osteogenesis Imperfecta and Cell Therapy. Osteogenesis Imperfecta (OI) is a disease in which the individual has weak brittle bones which fracture easily, resulting in multiple fractures throughout their childhood. Children become deformed and often do not walk or grow normally. The meeting was conducted to highlight the newer advances and therapies for osteogenesis imperfecta and bring regulatory processes and challenges that need to be addressed.

Autosomal recessive osteopetrosis: mechanisms and treatments

ABSTRACT Autosomal recessive osteopetrosis (ARO) is a severe inherited bone disease characterized by defective osteoclast resorption or differentiation. Clinical manifestations include dense and brittle bones, anemia and progressive nerve compression, which hamper the quality of patients' lives and cause death in the first 10 years of age. This Review describes the pathogenesis of ARO and highlights the strengths and weaknesses of the current standard of care, namely hematopoietic stem cell transplantation (HSCT). Despite an improvement in the overall survival and outcomes of HSCT, transplant-related morbidity and the pre-existence of neurological symptoms significantly limit the success of HSCT, while the availability of human leukocyte antigen (HLA)-matched donors still remains an open issue. Novel therapeutic approaches are needed for ARO patients, especially for those that cannot benefit from HSCT. Here, we review preclinical and proof-of-concept studies, such as gene therapy, systematic administration of deficient protein, in utero HSCT and gene editing.

Bilateral Distal Humeral Fracture in a patient with Osteogenesis imperfecta During the Covid Pandemic– A Rare Case Report

Introduction: Osteogenesis imperfecta (OI) is a genetic disorder which is characterised by bone deformity, low bone mass, connective tissue manifestations and brittle bones with history of multiple fractures. Although recurrent fractures are known in patient with OI, the occurrence of bilateral simultaneous fracture of humerus is quite rare. Presenting complaint and investigations: The patient had a fall in the outdoors during a storm during the height of covid pandemic and sustained injury to both arms. Radiographs revealed comminuted fracture of left distal humerus and transverse extraarticular supracondylar fracture of right humerus. Diagnoses, therapeutics interventions, and outcomes: Although, conservative measures were advised as per the guidelines for orthopaedic surgery during the covid pandemic for most of the fractures, the decision to operate was made considering the morbid obesity and hampered mobility due to bilateral above elbow plaster.The patient underwent staged open reduction and internal fixation of both distal humerus with anatomical locking plates in a span of 2 weeks. She recovered uneventfully with a good functional range of movements and resumed her routine activities. Conclusion: The treatment for complex and unusual fractures should be individualised and should take into consideration of patient’s general condition and safety.

Magnetic Resonance Imaging Diagnosis of Osteopetrosis in a Child Presenting with Blindness

Osteopetrosis is a rare hereditary bone dysplasia of heterogeneous pathophysiology in which failure of osteoclastic bone resorption leads to increased bone mass, which has poor mechanical properties. Patients present in childhood with complaints of bone pains, failure to thrive and growth retardation. Other clinical findings include severe anemia, hepatosplenomegaly, lymphadenopathy and thrombocytopenia. The dense, extremely brittle bones fracture easily. Involvement of the cranium can lead to optic nerve atrophy with blindness or other cranial nerve defects. The diagnosis is primarily radiographic and may be supported by computed tomography scan. We are reporting a case of a 4-year-old boy who presented with blindness since the age of 6 months and the diagnosis of osteopetrosis was suggested on magnetic resonance imaging.