Treatment of Primary Hyperparathyroidism in the Setting of Tatton-Brown-Rahman Syndrome

Abstract

Tatton-Brown-Rahman syndrome (TBRS) is a rare overgrowth syndrome first described in 2014.1 This report describes a 17-year-old male with TBRS who presented with primary hyperparathyroidism (PH) and was found to have sestamibi positive imaging. The patient underwent a bilateral neck exploration where an ectopic parathyroid gland was localized and removed. The patient had no surgical complications, and his follow up visit showed normalization of parathyroid hormone and calcium levels. This report represents the importance of obtaining multiple imaging modalities during preoperative preparation for a parathyroidectomy in patients with TBRS. It also demonstrates the need for further publications of anatomic anomalies associated with PH in patients with TBRS in the future.

Keywords

anatomy endocrine head/neck surgical oncology

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References

Tatton-Brown

Seal

Ruark

, et al. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat Genet. 2014;46(4):385-388.

Phitayakorn

McHenry

. Incidence and location of ectopic abnormal parathyroid glands. Am J Surg. 2006;191(3):418-423.

Uludağ

Aygün

İşgör

. Main surgical principles and methods in surgical treatment of primary hyperparathyroidism. Sisli Etfal Hastan Tip Bul. 2019;53(4):337-352.

Shen

Heeley

Carlston

, et al. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. Am J Med Genet A. 2017;173(11):3022-3028.