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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| Format: | Article |
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MDPI AG
2023-04-01
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| Series: | Medicina |
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| Online Access: | https://www.mdpi.com/1648-9144/59/5/856 |
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| author | Ioana Rosca Alina Turenschi Alin Nicolescu Andreea Teodora Constantin Adina Maria Canciu Alice Denisa Dica Elvira Bratila Ciprian Andrei Coroleuca Leonard Nastase |
| author_facet | Ioana Rosca Alina Turenschi Alin Nicolescu Andreea Teodora Constantin Adina Maria Canciu Alice Denisa Dica Elvira Bratila Ciprian Andrei Coroleuca Leonard Nastase |
| author_sort | Ioana Rosca |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-11T03:31:04Z |
| format | Article |
| id | doaj.art-285ba3d95eaa4533bfa0ab200497ff2c |
| institution | Directory Open Access Journal |
| issn | 1010-660X 1648-9144 |
| language | English |
| last_indexed | 2024-03-11T03:31:04Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Medicina |
| spelling | doaj.art-285ba3d95eaa4533bfa0ab200497ff2c2023-11-18T02:21:12ZengMDPI AGMedicina1010-660X1648-91442023-04-0159585610.3390/medicina59050856Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case ReportIoana Rosca0Alina Turenschi1Alin Nicolescu2Andreea Teodora Constantin3Adina Maria Canciu4Alice Denisa Dica5Elvira Bratila6Ciprian Andrei Coroleuca7Leonard Nastase8Neonatology Department, Clinical Hospital of Obstetrics and Gynecology “Prof. Dr. P.Sirbu”, 060251 Bucharest, RomaniaEmergency Clinical Hospital for Children “Grigore Alexandrescu”, 011743 Bucharest, RomaniaCardiology Department, Emergency Clinical Hospital for Children “M.S. Curie”, 41451 Bucharest, RomaniaFaculty of Medicine, University of Medicine and Pharmacy “Carol Davila”, 020021 Bucharest, RomaniaEmergency Clinical Hospital for Children “Grigore Alexandrescu”, 011743 Bucharest, RomaniaPediatric Neurology Department, Clinical Psychiatric Hospital “Al. Obregia”, 041914 Bucharest, RomaniaFaculty of Medicine, University of Medicine and Pharmacy “Carol Davila”, 020021 Bucharest, RomaniaFaculty of Medicine, University of Medicine and Pharmacy “Carol Davila”, 020021 Bucharest, RomaniaFaculty of Medicine, University of Medicine and Pharmacy “Carol Davila”, 020021 Bucharest, RomaniaDown 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.https://www.mdpi.com/1648-9144/59/5/856Down syndromenewborngalactosemiahypothyroidismhypoaldosteronismmultidisciplinary team |
| spellingShingle | Ioana Rosca Alina Turenschi Alin Nicolescu Andreea Teodora Constantin Adina Maria Canciu Alice Denisa Dica Elvira Bratila Ciprian Andrei Coroleuca Leonard Nastase Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report Medicina Down syndrome newborn galactosemia hypothyroidism hypoaldosteronism multidisciplinary team |
| 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 | Down syndrome newborn galactosemia hypothyroidism hypoaldosteronism multidisciplinary team |
| url | https://www.mdpi.com/1648-9144/59/5/856 |
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