Limited formal guidelines, scarcity of cases, and variable manifestation forms all contribute to the challenges of diagnosing hyperparathyroidism-jaw tumor (HPT-JT) syndrome. This condition characterized by parathyroid tumors, fibro-osseous jaw tumors, and renal and gynecological pathologies results in significant morbidity, restricted functionality, and malignancy risk. Genetic testing is the gold standard investigation to evaluate for CDC73 mutations, that cause HPT-JT syndrome. Genetic testing for CDC73 mutations should be encouraged among family members of affected individuals. Surgery is the mainstay of treatment for many of the encountered pathologic entities.We report a 42-year-old female with a history of infertility and right subtrochanteric femoral fracture secondary to osteoporosis. The patient was suspected to have primary hyperparathyroidism secondary to parathyroid adenomas that were later biochemically and scintigraphically proved with subsequent partial parathyroidectomy.One and a half years following the initial presentation, the patient developed gradual swelling of the lower face with regional osseous involvement in addition to the clinical and radiological picture of recurrent parathyroid adenoma. We present this rare diagnosis of HPT-JT syndrome to promote awareness among physicians regarding this essential differential diagnosis. A low threshold for genetic testing and a high index of suspicion for HPT-JT syndrome must be kept in cases of patients presenting with high parathyroid hormone levels and masses. The screening must extend to all the family members as well. With this approach, the high morbidity, facial disfigurement, and significant malignancy risk can be lowered in the affected individuals improving their life expectancy.
Transient osteoporosis of the hip (TOOH) is a rare disorder of unknown etiology without any antecedent history of trauma. There is a sudden onset of acute severe pain and temporary osteopenia in the joint involved with associated radiological findings of bone loss and marrow edema. Magnetic Resonance Imaging (MRI) is the gold standard imaging modality for diagnosis and disease monitoring. The major goal of this case presentation is to emphasize the necessity to add TOOH as an important differential of sudden hip pain and to review the literature on this entity.
Circumportal pancreas is a rare anatomical variant in which anomalous pancreatic parenchyma entirely encircles the portal vein. A 60 years old female presented to us for CT enteroclysis with complaint of diffuse abdominal pain. Infrasplenic circumportal pancreas with anteportal pancreatic duct was reported, which is an incidental finding. It presents a diagnostic challenge for a radiologist because misinterpretation of circumportal pancreas as a pancreatic head mass can have a significant impact on clinical outcomes i.e. postoperative pancreatic fistula and can help surgeon to plan better approach for pancreatectomies.
Renal lymphangiomatosis is a rare pathology wherein dilatation of perirenal, parapelvic, and intrarenal lymphatics is observed and can occur in both children and adults. It has no gender predilection and can present in unilateral and bilateral forms. Clinical symptomatology ranges from incidental findings to flank pain, hematuria, and abdominal swelling.Radiological appearances may mimic renal cysts, peripelvic cysts, perinephric abscesses, or collections. This emphasizes the importance of developing familiarity with the imaging characteristics of this rare entity.We present the case of an 11-year-old boy whose chief complaint was abdominal distension and bilateral flank pain. The radiological assessment revealed bilateral perinephric collections, which, along with clinical correlation, led to the diagnosis of bilateral peri-renal lymphangiomatosis.
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