Williams-Beuren Syndrome With Primary Hyperparathyroidism: A Rare Diagnosis In A Rare Genetic Syndrome

Williams-Beuren Syndrome With Primary Hyperparathyroidism: A Rare Diagnosis In A Rare Genetic Syndrome

ABSTRACT: Objective: This case report is the first to describe functional parathyroid disease in Williams-Beuren Syndrome (WBS). We report a patient with hypercalcemia in infancy and later in adulthood whose unusual complex of elfin facies and multiple medical comorbidities, including hypercalcemia,...

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Main Authors: Julie Goswami, MD, Steven P. Hodak, MD, Sally E. Carty, MD, Kelly L. McCoy, MD
Format: Article
Language:English
Published: Elsevier 2017-01-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060520301747
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spelling doaj-d54c2b06de684a839657a1369371f64c2021-04-30T07:23:49ZengElsevierAACE Clinical Case Reports2376-06052017-01-0133e213e216Williams-Beuren Syndrome With Primary Hyperparathyroidism: A Rare Diagnosis In A Rare Genetic SyndromeJulie Goswami, MD0Steven P. Hodak, MD1Sally E. Carty, MD2Kelly L. McCoy, MD3From the 1University of Pittsburgh Medical Center Department of Surgery, New York, New York.New York University Langone Medical Center, New York, New York.From the 1University of Pittsburgh Medical Center Department of Surgery, New York, New York.From the 1University of Pittsburgh Medical Center Department of Surgery, New York, New York.; Address correspondence to Dr. Kelly L. McCoy, University of Pittsburgh Medical Center, Assistant Professor of Surgery, 3471 Fifth Avenue, Suite 101, Pittsburgh, PA 15213.ABSTRACT: Objective: This case report is the first to describe functional parathyroid disease in Williams-Beuren Syndrome (WBS). We report a patient with hypercalcemia in infancy and later in adulthood whose unusual complex of elfin facies and multiple medical comorbidities, including hypercalcemia, ultimately led to a diagnosis of WBS by fluorescent in situ hybridization. While hypercalcemia is a common finding in patients with WBS, parathyroid hormone levels are typically suppressed.Methods: This study consists of a case report and literature review conducted in a high-volume university endocrine surgery center. We describe a 58-year-old patient with elfin facies, recurrent hyperparathyroidism, friendly personality, cognitive impairment, recurrent cystitis, hypertension, and stroke who was treated surgically for primary hyperparathyroidism with durable cure of his hypercalcemia. Outcomes are measured with long-term biochemical confirmation of cure after several re-operative surgical interventions.Results: After two parathyroid explorations failed to cure the patient's primary hyperparathyroidism, re-operative resection of an abnormal parathyroid gland resulted in intra-operative parathyroid hormone normalization (300 pg/mL to 57 pg/mL) and subsequent long-term normocalcemia (25 months).Conclusion: Though hypercalcemia is a known feature of WBS, it has not been reported in association with primary hyperparathyroidism. In the setting of WBS, hypercalcemia should be thoroughly evaluated to exclude this condition, which can be surgically cured.Abbreviations:IIH = idiopathic infantile hypercalcemiaIV = intravenousPHP = primary hyperparathyroidismPTH = parathyroid hormoneTRPC3 = transient receptor potential C3WBS = Williams-Beuren syndromehttp://www.sciencedirect.com/science/article/pii/S2376060520301747
collection DOAJ
language English
format Article
sources DOAJ
author Julie Goswami, MD
Steven P. Hodak, MD
Sally E. Carty, MD
Kelly L. McCoy, MD
spellingShingle Julie Goswami, MD
Steven P. Hodak, MD
Sally E. Carty, MD
Kelly L. McCoy, MD
Williams-Beuren Syndrome With Primary Hyperparathyroidism: A Rare Diagnosis In A Rare Genetic Syndrome
AACE Clinical Case Reports
author_facet Julie Goswami, MD
Steven P. Hodak, MD
Sally E. Carty, MD
Kelly L. McCoy, MD
author_sort Julie Goswami, MD
title Williams-Beuren Syndrome With Primary Hyperparathyroidism: A Rare Diagnosis In A Rare Genetic Syndrome
title_short Williams-Beuren Syndrome With Primary Hyperparathyroidism: A Rare Diagnosis In A Rare Genetic Syndrome
title_full Williams-Beuren Syndrome With Primary Hyperparathyroidism: A Rare Diagnosis In A Rare Genetic Syndrome
title_fullStr Williams-Beuren Syndrome With Primary Hyperparathyroidism: A Rare Diagnosis In A Rare Genetic Syndrome
title_full_unstemmed Williams-Beuren Syndrome With Primary Hyperparathyroidism: A Rare Diagnosis In A Rare Genetic Syndrome
title_sort williams-beuren syndrome with primary hyperparathyroidism: a rare diagnosis in a rare genetic syndrome
publisher Elsevier
series AACE Clinical Case Reports
issn 2376-0605
publishDate 2017-01-01
description ABSTRACT: Objective: This case report is the first to describe functional parathyroid disease in Williams-Beuren Syndrome (WBS). We report a patient with hypercalcemia in infancy and later in adulthood whose unusual complex of elfin facies and multiple medical comorbidities, including hypercalcemia, ultimately led to a diagnosis of WBS by fluorescent in situ hybridization. While hypercalcemia is a common finding in patients with WBS, parathyroid hormone levels are typically suppressed.Methods: This study consists of a case report and literature review conducted in a high-volume university endocrine surgery center. We describe a 58-year-old patient with elfin facies, recurrent hyperparathyroidism, friendly personality, cognitive impairment, recurrent cystitis, hypertension, and stroke who was treated surgically for primary hyperparathyroidism with durable cure of his hypercalcemia. Outcomes are measured with long-term biochemical confirmation of cure after several re-operative surgical interventions.Results: After two parathyroid explorations failed to cure the patient's primary hyperparathyroidism, re-operative resection of an abnormal parathyroid gland resulted in intra-operative parathyroid hormone normalization (300 pg/mL to 57 pg/mL) and subsequent long-term normocalcemia (25 months).Conclusion: Though hypercalcemia is a known feature of WBS, it has not been reported in association with primary hyperparathyroidism. In the setting of WBS, hypercalcemia should be thoroughly evaluated to exclude this condition, which can be surgically cured.Abbreviations:IIH = idiopathic infantile hypercalcemiaIV = intravenousPHP = primary hyperparathyroidismPTH = parathyroid hormoneTRPC3 = transient receptor potential C3WBS = Williams-Beuren syndrome
url http://www.sciencedirect.com/science/article/pii/S2376060520301747
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