ArticleMedicina (Kaunas, Lithuania)2023
Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report.
Article in Medicina (Kaunas, Lithuania), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- Association of Hospital Practices and Early Postnatal Support with Breastfeeding Outcomes in Premature and Term Infants.Children (Basel, Switzerland) · 2026Article
- Preventable Infectious Pathology Dominates Neonatal Readmissions: A Retrospective Analysis from a Pediatrics Department in Ploiești, Romania.Children (Basel, Switzerland) · 2026Article
- Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome.Human mutation · 2026Article
- Extremely Premature Infant and Digestive Malformations: Case Report of Atypical Postoperative Journeys.Pediatric reports · 2025Article
- Neonatal Renal Ultrasound Reference Values in Romanian Term Newborns: Correlations with Anthropometric Characteristics.Children (Basel, Switzerland) · 2025Article
- Neurodevelopmental Outcomes in Children Born to Mothers Infected with SARS-CoV-2 During Pregnancy: A Narrative Review.Journal of clinical medicine · 2025Review
- Infantile Hemangioma: Risk Factors and Management in a Preterm Patient-A Case Report.Reports (MDPI) · 2024Article
- Co-Occurrence of Congenital Aniridia Due to NonsenseInternational journal of molecular sciences · 2023Article
- Two Cases of Congenital Hypothyroidism Revealing Thyroid Agenesis.Medicina (Kaunas, Lithuania) · 2023Article
- Dyslipidemia in Pediatric Patients: A Cross-Sectional Study.Medicina (Kaunas, Lithuania) · 2023Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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