Brittle Bone Brothers: Osteogenesis Imperfecta Conventional Serial Case

Osteogenesis Imperfecta is a hereditary connective tissue disorder due to COL1A1/2 mutation causing gene defect encoding proteins to metabolize collagen. The skeletal manifestation of OI causing bone incompetence, hence the name brittle bone disease. Here we report three cases of OI type IV in adults. Skeletal conventional X-rays were performed to all patients and all of them has similar results such as bowing deformities of long bones, old union and some non-union fractures with extreme angulation and severe osteoporosis. OI are classified based on skeletal structure, sclera colorization, dentinogenesis, and functional metabolic defect genetically. OI type I and IV can live until adults; also, the same type of OI can be found in siblings. Skeletal conventional X-rays can solely make the diagnosis.

Mandibular Brown Tumor as a Result of Secondary Hyperparathyroidism: A Case Report with 5 Years Follow-Up and Review of the Literature

Background: Brown tumor is a rare skeletal manifestation of secondary hyperparathyroidism. Although diagnosis of the disease is increasingly seen in early stages due to improved screening techniques, some patients still present in a progressed disease stage. The treatment depends on tumor mass and varies from a conservative approach with supportive parathyroidectomy to extensive surgical resection with subsequent reconstruction. Case presentation: We report a case of extensive mandibular brown tumor in a patient with a history of systemic lupus erythematosus, chronic kidney disease, and secondary hyperparathyroidism. Following radical resection of the affected bone, reconstruction could be successfully performed using a free flap. Conclusions: There were no signs of recurrence during five years of close follow-up. Increased awareness and multidisciplinary follow-ups could allow early diagnosis and prevent the need for radical therapeutical approaches.

Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta

Intrauterine fractures are a rare clinical finding caused by abnormal early-life osteogenesis. In this case report, we reported a male infant with twenty-three intrauterine/fetal fractures resembling osteogenesis imperfecta and tested negative for COL1A1 and COL1A2 mutations. The infant’s mother had Ehlers–Danlos syndrome, hypermobility type. Whole-genome sequencing revealed that there were no pathologic mutations previously documented to be associated with intrauterine fracture. Genetic mutations reported to be associated with fragility fractures were identified. These include the pathogenic homozygous mutation in the CCDC134 gene. Other genetic variants that might be responsible for variable expressivity of the skeletal manifestation include the homozygous variants of the genes CCDC134, COL15A1 and ZFPM1, and the heterozygous variants of the genes MYH3, BCHE, AUTS2. This is the first reported case of in utero fractures, that was confirmed by X-ray after birth, in an infant who had no genetic evidence for osteogenesis imperfecta, had a homozygous pathogenic mutation of an osteogenesis gene and whose mother had Ehlers-Danlos syndrome hypermobility type. Therefore, we have identified a new genetic cause for in utero fractures. If after birth, this infant were found to have these fractures in various stages of healing with a negative genetic test for osteogenesis imperfecta he would have been misdiagnosed as due to nonaccidental trauma.

Progeroid Syndrome with Mitral Regurgitation: A Rare Case Report

Progeroid syndromes (PS) involve the disorder of early aging. Although survival of progeria syndrome patients is nearly 15 years as per literature, the adult onset progeroid starts manifesting in the third decade. Here, we are presenting a rare case of progeroid at the age of 45 years with mitral regurgitation (MR). The patient has alopecia, dry skin, frontal bossing, up staring eyes with bilateral corneal opacities, prominent nose with parrot beak appearance, thin upper lip, large, low-set ears, periorbital hyperpigmentation, micrognathia, retrognathia, and hyperpigmentation over lower abdomen/both feet and hands. Facial and skeletal manifestation are the major clinical features of the PS; along with the characteristics mentioned above, the patient also had severe eccentric MR. This patient has PS with mitral valve prolapse and severe MR. Most of the features of progeria exist in this patient, which manifested at a younger age. However, the progression of the external features and survival up to 45 years favors PS instead of progeria. Therefore, genetic analysis is mandatory to confirm. We are reporting this case due to the rarity of onset of symptoms within a younger age group; however, the progression of the disease was very slow, which may be a another variant of progeria/PS.

MON-347 Osteitis Fibrosa Cystica and Pathological Fractures: The Classic but Neglected Skeletal Manifestation of Primary Hyperparathyroidism

Background: Osteitis fibrosa cystica is one of the classic manifestations of primary hyperparathyroidism (PHPT), yet it has become increasingly rare due to early detection of PHPT. Clinical case: A 37-year-old woman was referred to our hospital for fixation of multiple fractures. Before transferring to our hospital, she was admitted to a local hospital due to right distal humerus and left tibial fractures without history of trauma. During the hospitalization, a new fracture at left femur had occurred. Her past medical history was significant for fractures of right shoulder, left elbow and right femur when she fell on the ground 5 years ago and treated by fixation. She had a history of kidney stones in the remote past. She denied family history of calcium or skeletal disorders. Clinical examination revealed gross deformities at right elbow, left thigh and painful swelling of the left tibia. On HEENT examination, there were no palpable neck masses. Upon review of plain radiographs from outside hospital, we found not only fractures but diffuse osteopenia and brown tumors at multiple sites including shaft of right humerus, right proximal radius, left proximal femoral shaft and left tibia. Skull X-ray showed salt-and-pepper appearance. There were prominent subendplate densities at multiple lumbar spines (Rugger-jersey spine). These findings were consistent with osteitis fibrosa cystica which prompted further laboratory investigation for PHPT. The patient had a high corrected serum calcium level of 13.6 (8.6-10.0) mg/dl, low serum phosphate of 2.2 (2.5-4.5) mg/dL, serum creatinine of 1.16 (0.51-0.95) mg/dL, glomerular filtration rate (GFR) of 60.29 ml/min, high serum alkaline phosphatase of 1,482 (35-105) U/L. The serum parathyroid hormone (PTH) level was significantly high at 3,850 (15-65) pg/mL. Vitamin D level was low at 5.98 (≥30) ng/mL. The patient was diagnosed with PHPT. The left lower parathyroid adenoma was identified by 99mTc-Sestamibi scan with single photon emission computed tomography and neck ultrasound. Given severe skeletal manifestations and extremely elevated PTH level, urgent parathyroidectomy was performed. A 2.5-cm parathyroid adenoma was removed which was histologically confirmed by a pathologist. Postoperatively, she developed a hungry bone syndrome which resolved 10 months after. Clinical lesson: In current practice, skeletal manifestation of PHPT is uncommon with a reported incidence of 1.4% in US. Osteitis fibrosa cystica is a radiographic feature of PHPT characterized by demineralized skeleton, salt-and-pepper appearance of the skull, subperiosteal resorption of the phalanges, bone cysts, and brown tumors. Although PHPT has evolved to asymptomatic disease in majority of patients, the classic skeletal involvement should not be overlooked, particularly in young patients who present with multiple pathological fractures.

Tuberculosis Presenting as Isolated Wrist Swelling: A Case Report and Review of Literature

Background. Tuberculosis is a common disease entity in South East Asian countries with a significant global burden. An extra skeletal manifestation such as monoarticular TB is common, but isolated involvement of the wrist is rare. Case Summary. A 53-year-old Sri Lankan male with long-standing diabetes presented with an isolated hand swelling for a 7-month duration. His initial imaging and MRI showed multiple destructive lesions in the carpal bones, surrounding focal fluid collections and found to have caseous material intraoperatively. His histology and microbiological studies were positive for TB with no other concurrent evidence of TB elsewhere. Conclusion. Different presentations of tuberculosis should be considered when patients are presenting with atypical clinical and initial basic investigation findings in relation to monoarticular pathologies.