Background: Neonatal hypoglycemia is more prevalent and can cause severe neurological sequelae. The objective of this study was to assess the patterns of neuroradiologic changes in neonatal hypoglycemia.
Methods: A retrospective cohort study was conducted on 66 neonatal hypoglycemia patients, and the magnetic resonance imaging (MRI) and clinical records were reviewed.
Results: Magnetic resonance imaging showed evidences of abnormality in 54.54% (36 of 66) of hypoglycemic infants. The most common abnormal findings were located on the parietal and occipital lobes of the brains. The number of days with hypoglycemia was significantly higher for abnormal MRI infants ( < .001), and prolonged/recurrent hypoglycemia was remarkably distinguished for abnormal MRI infants ( < .001). Patients with abnormal MRI findings did not have a lower blood glucose than infants without abnormal MRI findings ( > .05), but the lowest blood glucose was significantly lower for the patients with seizures ( < .01).
Conclusions: The pattern of bilateral occipital cortical injury is the most common abnormality for neonatal hypoglycemia. The number of days with hypoglycemia, not the lower blood glucose, was significantly related to abnormal MRI infants.
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http://dx.doi.org/10.1177/1179556519867953 | DOI Listing |
JCEM Case Rep
January 2025
Department of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
A male neonate exhibited hallmark features of Beckwith-Wiedemann syndrome (BWS) including large for gestational age, macroglossia, multiple ear pits, and umbilical hernia. He had neonatal hypoglycemia, requiring a glucose infusion rate of 9.7 mg/kg/min.
View Article and Find Full Text PDFMol Genet Metab
January 2025
Clinical Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium. Electronic address:
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) deficiency is a rare, potentially life-threatening autosomal recessive disorder resulting from mutations in the HMGCS2 gene, leading to impaired ketogenesis. We systematically reviewed the clinical presentations, biochemical and genetic abnormalities in 93 reported cases and 2 new patients diagnosed based on biochemical findings. Reported onset ages ranged from 3 months to 6 years, mostly before the age of 3.
View Article and Find Full Text PDFJ Family Med Prim Care
December 2024
Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively. It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anomalies, genitourinary anomalies, and mild to moderate intellectual disability). This syndrome can lead to neonatal hypoglycemia that results from hyperinsulinemia and electrolyte abnormalities.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Postbus, Groningen, 30001 - 9700 RB, the Netherlands.
Background: Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on a combination of different biomarkers, mostly routine clinical chemical markers and subsequent genetic confirmation.
View Article and Find Full Text PDFDiabetes Care
January 2025
Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL.
Objective: Subtypes of gestational diabetes mellitus (GDM) based on insulin sensitivity and secretion have been described. We addressed the hypothesis that GDM subtypes are differentially associated with newborn and child anthropometric and glycemic outcomes.
Research Design And Methods: Newborn and child (age 11-14 years) outcomes were examined in 7,970 and 4,160 mother-offspring dyads, respectively, who participated in the Hyperglycemia and Adverse Pregnancy Outcome Study (HAPO) and Follow-Up Study.
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