Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.

Detalhes bibliográficos
Autor(a) principal: Garcia, C
Data de Publicação: 2018
Outros Autores: Correia, CR, Lopes, L
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.10/2218
Resumo: Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1.37 mmol/L (2.20-2.69), phosphate 2.1 mmol/L (0.8-1.45) and PTH 302 ng/L (12-88). CT scan of the head demonstrated multiple subcortical and diffuse basal ganglia calcifications. Genetic analysis confirmed a methylation defect in the GNAS cluster on chromosome 20q13.32 which established the diagnosis. Treatment with calcitriol and calcium carbonate led to complete remission of symptoms. Causes of hypocalcaemia should be considered in evaluating patients with movement disorders. The diagnosis of PHP-1B is challenging but the overall prognosis is excellent.
id RCAP_50aa778429293fda09411a5ab45cb007
oai_identifier_str oai:repositorio.hff.min-saude.pt:10400.10/2218
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.PseudohypoparathyroidismTetanyPseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1.37 mmol/L (2.20-2.69), phosphate 2.1 mmol/L (0.8-1.45) and PTH 302 ng/L (12-88). CT scan of the head demonstrated multiple subcortical and diffuse basal ganglia calcifications. Genetic analysis confirmed a methylation defect in the GNAS cluster on chromosome 20q13.32 which established the diagnosis. Treatment with calcitriol and calcium carbonate led to complete remission of symptoms. Causes of hypocalcaemia should be considered in evaluating patients with movement disorders. The diagnosis of PHP-1B is challenging but the overall prognosis is excellent.Taylor & FrancisRepositório do Hospital Prof. Doutor Fernando FonsecaGarcia, CCorreia, CRLopes, L2019-04-24T15:23:35Z2018-01-01T00:00:00Z2018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.10/2218engPaediatr Int Child Health. 2018 Nov;38(4):281-2842046-905510.1080/20469047.2017.1341730metadata only accessinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-20T15:52:54Zoai:repositorio.hff.min-saude.pt:10400.10/2218Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:53:11.283557Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
title Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
spellingShingle Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
Garcia, C
Pseudohypoparathyroidism
Tetany
title_short Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
title_full Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
title_fullStr Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
title_full_unstemmed Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
title_sort Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
author Garcia, C
author_facet Garcia, C
Correia, CR
Lopes, L
author_role author
author2 Correia, CR
Lopes, L
author2_role author
author
dc.contributor.none.fl_str_mv Repositório do Hospital Prof. Doutor Fernando Fonseca
dc.contributor.author.fl_str_mv Garcia, C
Correia, CR
Lopes, L
dc.subject.por.fl_str_mv Pseudohypoparathyroidism
Tetany
topic Pseudohypoparathyroidism
Tetany
description Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1.37 mmol/L (2.20-2.69), phosphate 2.1 mmol/L (0.8-1.45) and PTH 302 ng/L (12-88). CT scan of the head demonstrated multiple subcortical and diffuse basal ganglia calcifications. Genetic analysis confirmed a methylation defect in the GNAS cluster on chromosome 20q13.32 which established the diagnosis. Treatment with calcitriol and calcium carbonate led to complete remission of symptoms. Causes of hypocalcaemia should be considered in evaluating patients with movement disorders. The diagnosis of PHP-1B is challenging but the overall prognosis is excellent.
publishDate 2018
dc.date.none.fl_str_mv 2018-01-01T00:00:00Z
2018-01-01T00:00:00Z
2019-04-24T15:23:35Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.10/2218
url http://hdl.handle.net/10400.10/2218
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Paediatr Int Child Health. 2018 Nov;38(4):281-284
2046-9055
10.1080/20469047.2017.1341730
dc.rights.driver.fl_str_mv metadata only access
info:eu-repo/semantics/openAccess
rights_invalid_str_mv metadata only access
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Taylor & Francis
publisher.none.fl_str_mv Taylor & Francis
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
_version_ 1799130398579490816