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Hypocalcemia and a Positive Metabolic Screen for Severe Combined Immunodeficiency in an 11-Day-Old Male With DiGeorge Syndrome
22q11 deletion syndrome (22q11DS), also known as DiGeorge syndrome or velocardiofacial syndrome, is the most common human genetic microdeletion. Hypocalcemia secondary to hypoparathyroidism is a common finding in this condition and may present with seizures. We describe a case of an 11-day-old male...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Cureus
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584303/ https://www.ncbi.nlm.nih.gov/pubmed/33123438 http://dx.doi.org/10.7759/cureus.10625 |
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author | Ford, Jessica Pena, Jose M Rainey, Shane C |
author_facet | Ford, Jessica Pena, Jose M Rainey, Shane C |
author_sort | Ford, Jessica |
collection | PubMed |
description | 22q11 deletion syndrome (22q11DS), also known as DiGeorge syndrome or velocardiofacial syndrome, is the most common human genetic microdeletion. Hypocalcemia secondary to hypoparathyroidism is a common finding in this condition and may present with seizures. We describe a case of an 11-day-old male presenting with hypocalcemic seizures and a positive newborn screen for severe combined immunodeficiency as the primary manifestations of 22q11DS. Given the potential for wide phenotypic variability, clinicians should maintain a high index of suspicion for this syndrome, especially in the neonate presenting with hypocalcemia. |
format | Online Article Text |
id | pubmed-7584303 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-75843032020-10-28 Hypocalcemia and a Positive Metabolic Screen for Severe Combined Immunodeficiency in an 11-Day-Old Male With DiGeorge Syndrome Ford, Jessica Pena, Jose M Rainey, Shane C Cureus Endocrinology/Diabetes/Metabolism 22q11 deletion syndrome (22q11DS), also known as DiGeorge syndrome or velocardiofacial syndrome, is the most common human genetic microdeletion. Hypocalcemia secondary to hypoparathyroidism is a common finding in this condition and may present with seizures. We describe a case of an 11-day-old male presenting with hypocalcemic seizures and a positive newborn screen for severe combined immunodeficiency as the primary manifestations of 22q11DS. Given the potential for wide phenotypic variability, clinicians should maintain a high index of suspicion for this syndrome, especially in the neonate presenting with hypocalcemia. Cureus 2020-09-23 /pmc/articles/PMC7584303/ /pubmed/33123438 http://dx.doi.org/10.7759/cureus.10625 Text en Copyright © 2020, Ford et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Endocrinology/Diabetes/Metabolism Ford, Jessica Pena, Jose M Rainey, Shane C Hypocalcemia and a Positive Metabolic Screen for Severe Combined Immunodeficiency in an 11-Day-Old Male With DiGeorge Syndrome |
title | Hypocalcemia and a Positive Metabolic Screen for Severe Combined Immunodeficiency in an 11-Day-Old Male With DiGeorge Syndrome |
title_full | Hypocalcemia and a Positive Metabolic Screen for Severe Combined Immunodeficiency in an 11-Day-Old Male With DiGeorge Syndrome |
title_fullStr | Hypocalcemia and a Positive Metabolic Screen for Severe Combined Immunodeficiency in an 11-Day-Old Male With DiGeorge Syndrome |
title_full_unstemmed | Hypocalcemia and a Positive Metabolic Screen for Severe Combined Immunodeficiency in an 11-Day-Old Male With DiGeorge Syndrome |
title_short | Hypocalcemia and a Positive Metabolic Screen for Severe Combined Immunodeficiency in an 11-Day-Old Male With DiGeorge Syndrome |
title_sort | hypocalcemia and a positive metabolic screen for severe combined immunodeficiency in an 11-day-old male with digeorge syndrome |
topic | Endocrinology/Diabetes/Metabolism |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584303/ https://www.ncbi.nlm.nih.gov/pubmed/33123438 http://dx.doi.org/10.7759/cureus.10625 |
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