A case of tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma: a case report
نویسندگان
چکیده
The patient was a 27-year-old woman who was clinically diagnosed with tuberous sclerosis complex (TSC). She developed hypercalcemia and hypophosphatemia at age 23. In a detailed examination at age 26, she was diagnosed with primary hyperparathyroidism due to parathyroid adenoma. After undergoing parathyroidectomy, her hypercalcemia and hypophosphatemia rapidly normalized. Subsequent genetic testing revealed mutations of the TSC1 gene. TSC with concomitant parathyroid adenoma is extremely rare; only three cases have been reported worldwide. However, each of these cases was diagnosed clinically. Therefore, our case is the first to be diagnosed with genetic testing.
منابع مشابه
Huge Parathyroid Adenoma with Dysphagia Presentation; A Case Report from Southern Iran
AbstractParathyroid adenoma is a benign tumor of the parathyroid glands. The cause of most parathyroid adenomas is unknown. Parathyroid adenoma increases the secretion of parathyroid hormone and results in primary hyperparathyroidism. High amounts of parathyroid hormone in the blood cause the imbalance of calcium, which leads to various complications such as kidney stones, depression, lethargy,...
متن کاملAbsent radiotracer uptake in thyroid gland in parathyroid scintigraphy with 99mTc-MIBI: A case report
Localization of 99mTc- hexakis-2-methoxyisobutylisonitrile (99mTc-MIBI) by parathyroid adenomas is well known, and this warrants MIBI scan to evaluate suspected parathyroid adenoma in primary hyperparathyroidism. Typically, the radionuclide concentrates in both the thyroid gland and parathyroid adenoma in early images, and later on delayed images washes out slowly from the...
متن کاملScintigraphic evaluation of multifocal osteolytic lesions in a patient with primary hyperparathyroidism: A case report
Osteitis fibrosa cystica is the classic patognomonic form of skeletal disease in hyperparathyroidism that characterizes with decreased cortical bone thickness compared to increased cancellous bone. We present a case of 52-year old female patient with osteolysis of the left calf on radiographic images. The bone scan detected multiple focal pathological accumulations in the skull, left tibia, bot...
متن کاملMultiple brown tumors in a patient with parathyroid adenoma depicting affinity for both 99mTc -pertechnetate and 99mTc-MIBI: Evaluation with hybrid SPECT/CT
Parathyroid adenoma involving a single parathyroid gland is the underlying cause of 80-85% of primary hyperparathyroidism (PHPT). Skeletal system is significantly affected by PHPT. Brown tumors are known to have affinity for 99mTc-MIBI. We report a rare case of PHPT presenting with diffuse bony pain, high calcium level and significantly elevated alkaline phosphatase level. 99m<...
متن کاملConcomitant occurrence of primary hyperparathyroidism (PHPT) due to mediastinal parathyroid adenoma and sublingual thyroid gland: the role of parathyroid technetium‐99m‐MIBI scintigraphy
The concomitant appearance of a sublingual thyroid and primary hyperparathyroidism due to parathyroid mediastinal adenoma is not common. This co-occurrence can lead to a misdiagnosis by morphological imaging methods alone. This case emphasizes the role of 99mTc-MIBI scintigraphy in the detection of parathyroid ectopic adenoma in a patient with an ectopic thyroid gland. This more accurate locati...
متن کامل