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J Pediatr Genet 2021; 10(01): 045-048
DOI: 10.1055/s-0040-1701640
Case Report

Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case

Bruna Lixinski Diniz
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil
,
Andressa Barreto Glaeser
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil
,
Desirée Deconte
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil
,
Bruna Baierle Guaraná
2   Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, Brazil
,
Rafael Fabiano Machado Rosa
2   Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, Brazil
,
Paulo Ricardo Gazzola Zen 
2   Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, Brazil
› Author Affiliations Funding This study was supported by Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (FAPERGS, 17/2551-0001063-9), Programa de Extensão Universitária do Ministério da Educação e Cultura (PROEXT), and Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES, 001)/Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq, 301834/2016-4).
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Abstract

Ectopic calcification in soft tissue is associated with several disorders including pseudohypoparathyroidism (PHP), which is characterized by resistance or nonresponse to parathyroid hormone (PTH) function. Association between PHP and 22q11DS, also known as DiGeorge syndrome, is rare, especially in children. We describe a newborn girl diagnosed with 22q11DS, presenting ectopic calcifications in soft tissue and suspicion of PHP. PTH function showed values close to the upper limit of the reference value. Radiology showed bone callus in the right wrist. PHP can be a new clinical finding associated with 22q11DS. Parathyroid function investigation in individuals with 22q11DS, presenting bone dysmorphisms and/or calcium metabolism alterations, should be considered.

Keywords

ectopic calcification - pseudohypoparathyroidism - DiGeorge syndrome


Publication History

Received: 20 November 2019

Accepted: 08 January 2020

Article published online:
12 February 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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