Neonatal cholestasis results from a variety of etiologies, including anatomic, infectious, and metabolic abnormalities. Hyperthyroidism, in contrast to hypothyroidism, is infrequently associated with neonatal cholestasis. Newborn screening is an important tool to detect newborn metabolic disorders, including thyroid dysfunction. However, one must exercise caution when interpreting these reports; typically only high thyroid stimulating hormone (TSH) levels are flagged as abnormal, while low or undetectable levels may not be. We present a unique case of cholestasis in a hyperthyroid neonate of an untreated, undiagnosed mother with Graves' disease; the infant's metabolic screen was not flagged as abnormal.
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http://dx.doi.org/10.14309/crj.2014.85 | DOI Listing |
Front Pediatr
January 2025
Department of Gastroenterology, Kunming Children's Hospital, Kunming, China.
Background: The diagnostic criteria of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) have not been established due to non-specific clinical manifestations, and our understanding on the treatment outcome is still limited. We aim to investigate the biochemical characteristics, genetic variants, and treatment outcome of NICCD patients.
Methods: We compared the nutritional status and biochemical characteristics of 55 NICCD infants and 27 idiopathic neonatal cholestasis (INC) infants.
Front Pharmacol
January 2025
Fengxian Hospital, Southern Medical University, Shanghai, China.
Background: In the past few decades, selective serotonin reuptake inhibitors (SSRIs) became widely used antidepressants worldwide. Therefore, the adverse reactions of patients after SSRI administration became a public and clinical concern. In this study, we conducted a pharmacovigilance study using the Adverse Event Reporting System (FAERS) database of the US Food and Drug Administration.
View Article and Find Full Text PDFMedicina (Kaunas)
January 2025
Department of Obstetrics and Gynaecology, Medical Academy, Lithuanian University of Health Sciences, A. Mickevicius St. 7, 44307 Kaunas, Lithuania.
: To assess pregnancy and delivery complications in obese women with gestational diabetes mellitus (GDM) and neonatal weight and condition after birth. : A retrospective tertiary referral centre study included all cases of GDM in the Department of Obstetrics and Gynaecology of the Lithuanian University of Health Sciences (LUHS) Birth Registry from 1 January 2019 to 31 December 2019. We included 583 women with GDM and singleton pregnancies.
View Article and Find Full Text PDFEur J Med Genet
January 2025
APHM, Timone Enfant, Service de pédiatrie multidisciplinaire, Marseille France; Aix Marseille Univ, INSERM, MMG, Marseille France.
Pathogenic variants in VPS53 are associated with pontocerebellar hypoplasia type 2E (PCH2E), characterized by microcephaly, severe neurodevelopmental impairment and epilepsy. We present a case of a female neonate with VPS53 pathogenic variants exhibiting the classic phenotypic features along with liver disease and deafness, which had not been described in previously reported cases. Similarly, while liver abnormalities have been reported in patients with mutations in other genes coding for proteins of the GARP or EARP complex, of which VPS53 is a subunit, liver disease has not been described in PCH2E until now.
View Article and Find Full Text PDFTurk J Pediatr
November 2024
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Background: Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.
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