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Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report

Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye problems, hearing loss, endocrine and hematol...

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Autores principales: Rosca, Ioana, Turenschi, Alina, Nicolescu, Alin, Constantin, Andreea Teodora, Canciu, Adina Maria, Dica, Alice Denisa, Bratila, Elvira, Coroleuca, Ciprian Andrei, Nastase, Leonard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10220887/
https://www.ncbi.nlm.nih.gov/pubmed/37241085
http://dx.doi.org/10.3390/medicina59050856
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author Rosca, Ioana
Turenschi, Alina
Nicolescu, Alin
Constantin, Andreea Teodora
Canciu, Adina Maria
Dica, Alice Denisa
Bratila, Elvira
Coroleuca, Ciprian Andrei
Nastase, Leonard
author_facet Rosca, Ioana
Turenschi, Alina
Nicolescu, Alin
Constantin, Andreea Teodora
Canciu, Adina Maria
Dica, Alice Denisa
Bratila, Elvira
Coroleuca, Ciprian Andrei
Nastase, Leonard
author_sort Rosca, Ioana
collection PubMed
description Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye problems, hearing loss, endocrine and hematologic disorders, and many other health issues. We present the case of a newborn with Down syndrome. The infant was a female, born at term through c-section. She was diagnosed before birth with a complex congenital malformation. In the first few days of life, the newborn was stable. In her 10th day of life, she started to show respiratory distress, persistent respiratory acidosis, and persistent severe hyponatremia, and required intubation and mechanical ventilation. Due to her rapid deterioration our team decided to do a screening for metabolic disorders. The screening was positive for heterozygous Duarte variant galactosemia. Further testing on possible metabolic and endocrinologic issues that can be associated with Down syndrome was performed, leading to hypoaldosteronism and hypothyroidism diagnoses. The case was challenging for our team because the infant also had multiple metabolic and hormonal deficiencies. Newborns with Down syndrome often require a multidisciplinary team, as besides congenital cardiac malformations they can have metabolic and hormonal deficiencies that can negatively impact their short- and long-term prognosis.
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spelling pubmed-102208872023-05-28 Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report Rosca, Ioana Turenschi, Alina Nicolescu, Alin Constantin, Andreea Teodora Canciu, Adina Maria Dica, Alice Denisa Bratila, Elvira Coroleuca, Ciprian Andrei Nastase, Leonard Medicina (Kaunas) Case Report Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye problems, hearing loss, endocrine and hematologic disorders, and many other health issues. We present the case of a newborn with Down syndrome. The infant was a female, born at term through c-section. She was diagnosed before birth with a complex congenital malformation. In the first few days of life, the newborn was stable. In her 10th day of life, she started to show respiratory distress, persistent respiratory acidosis, and persistent severe hyponatremia, and required intubation and mechanical ventilation. Due to her rapid deterioration our team decided to do a screening for metabolic disorders. The screening was positive for heterozygous Duarte variant galactosemia. Further testing on possible metabolic and endocrinologic issues that can be associated with Down syndrome was performed, leading to hypoaldosteronism and hypothyroidism diagnoses. The case was challenging for our team because the infant also had multiple metabolic and hormonal deficiencies. Newborns with Down syndrome often require a multidisciplinary team, as besides congenital cardiac malformations they can have metabolic and hormonal deficiencies that can negatively impact their short- and long-term prognosis. MDPI 2023-04-28 /pmc/articles/PMC10220887/ /pubmed/37241085 http://dx.doi.org/10.3390/medicina59050856 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Rosca, Ioana
Turenschi, Alina
Nicolescu, Alin
Constantin, Andreea Teodora
Canciu, Adina Maria
Dica, Alice Denisa
Bratila, Elvira
Coroleuca, Ciprian Andrei
Nastase, Leonard
Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report
title Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report
title_full Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report
title_fullStr Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report
title_full_unstemmed Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report
title_short Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report
title_sort endocrine disorders in a newborn with heterozygous galactosemia, down syndrome and complex cardiac malformation: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10220887/
https://www.ncbi.nlm.nih.gov/pubmed/37241085
http://dx.doi.org/10.3390/medicina59050856
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