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Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
Published on: January 29, 2018
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[Disseminated osteolytic lesions in a 28-year-old refugee]
T Karrasch1, H D Walmrath2, M Kampschulte3
1Klinik und Poliklinik für Innere Medizin III, Universitätsklinikum Gießen und Marburg, Standort Gießen, 35392, Gießen, Deutschland. thomas.karrasch@innere.med.uni-giessen.de.
Der Internist
|July 28, 2017
Summary
A rare case of sporadic parathyroid carcinoma caused severe hypercalcemia and bone lesions. This led to a diagnosis of brown tumors and a mutation in the HPRT2 gene locus.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Primary hyperparathyroidism can lead to severe hypercalcemia and skeletal complications.
- Parathyroid carcinoma is a rare malignancy of the parathyroid glands, often presenting with advanced disease.
Observation:
- A 28-year-old Syrian refugee presented with knee pain and declining health.
- Investigations revealed severe hypercalcemia, widespread osteolytic bone lesions, and multinuclear giant cells consistent with brown tumors.
Findings:
- Computed tomography (CT) identified disseminated osteolytic lesions.
- Histopathology confirmed brown tumors, and surgical removal of a jugular mass revealed sporadic parathyroid carcinoma.
- Genetic analysis identified a mutation in the HPRT2 gene locus.
Implications:
- This case highlights the importance of considering parathyroid carcinoma in young patients with severe hypercalcemia and osteolytic bone lesions.
- The HPRT2 gene mutation may play a role in the pathogenesis of sporadic parathyroid carcinoma.
- Early diagnosis and treatment are crucial for managing this rare and aggressive endocrine malignancy.
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