Thanatological biochemistry has gained prominence in determining causes of death, especially when suspected fatal pathologies do not exhibit clear postmortem macroscopic and/or microscopic features, such as in cases of ketoacidosis. Indeed, in these cases, the measurement of β-hydroxybutyrate (BHB) in femoral blood and/or vitreous humor is of particular importance. However, data on its in vitro stability remain scarce, especially in vitreous humor.
View Article and Find Full Text PDFBackground: Prescribing tramadol in children raises safety concerns. In Europe, tramadol is still approved and licensed for use in children over 1-3 years of age, depending on the country. In this context, the authors report a case of a tramadol overdose in a 5-year-old-child with a medical history of homozygous sickle cell disease.
View Article and Find Full Text PDFArgininosuccinate lyase deficiency (ASLD, MIM 207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life-threatening hyperammonemia, and a late-onset form characterised by polymorphic neuro-cognitive or psychiatric presentation with transient hyperammonemia episodes. Here, we report a late-onset case of ASLD in a 72-year-old man carrying a homozygous pathogenic variant in the exon 16 of the gene, presenting for the first time with fatal hyperammonemic coma.
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