Objectives: Neonatal hypoglycaemia is a potential cause of neonatal morbidity, and on rare but tragic occasions causes long-term neurodevelopmental harm with consequent emotional and practical costs for the family. The organisational cost to the NHS includes the cost of successful litigation claims. The purpose of the review was to identify themes that could alert clinicians to common pitfalls and thus improve patient safety.
Design: The NHS Litigation Authority (NHS LA) Claims Management System was reviewed to identify and review 30 claims for injury secondary to neonatal hypoglycaemia, which were notified to the NHS LA between 2002 and 2011.
Setting: NHS LA.
Patients: Anonymised documentation relating to 30 neonates for whom claims were made relating to neonatal hypoglycaemia. Dates of birth were between 1995 and 2010.
Interventions: Review of documentation held on the NHS LA database.
Main Outcome Measures: Identifiable risk factors for hypoglycaemia, presenting clinical signs, possible deficits in care, financial costs of litigation.
Results: All claims related to babies of at least 36 weeks' gestation. The most common risk factor for hypoglycaemia was low birth weight or borderline low birth weight, and the most common reported presenting sign was abnormal feeding behaviour. A number of likely deficits in care were reported, all of which were avoidable. In this 10-year reporting period, there were 25 claims for which damages were paid, with a total financial cost of claims to the NHS of £162 166 677.
Conclusions: Acknowledging that these are likely to be the most rare but most seriously affected cases, the clinical themes arising from these cases should be used for further development of training and guidance to reduce harm and redivert NHS funds from litigation to direct care.
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http://dx.doi.org/10.1136/archdischild-2016-310936 | 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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