RESUMEN
We report the case of an 11-month-old male infant with a complex congenital heart disease who was admitted in the intensive care unit following cardiorespiratory arrest at home. Toxicological urine screening reported an ethanol concentration of 0.65 g/L using an enzymatic assay, without suspicion of alcohol intake; a significant amount of ethanol concentration was found in two plasma samples using the same enzymatic assay. Plasma and urine ethanol concentrations were below the limit of quantification (LOQ) when tested using a gas chromatography method. Urine ethanol level was also below the LOQ when tested by enzymatic assay after an initial urine ultrafiltration. These results confirmed our suspicion of matrix interference due to elevated lactate and lactate dehydrogenase levels interfering in the enzymatic assay. This analytical interference, well-known in postmortem samples, extensively studied in vitro, has been rarely reported in vivo, especially in children. To the best of our knowledge, this case is only the sixth one reported in an infant's plasma and the first initially discovered from urine. Indeed, as for ethanol, this last matrix has not been studied in the context of this artifact that may induce false-positive ethanol results while seeking a diagnosis in life-threatening or fatal situations that are potentially subject to forensic scrutiny. In parallel to a synthetic literature review, we propose a simple, informative decision tree, in order to help health professionals suspecting a false-positive result when performing an ethanol assay.
Asunto(s)
Líquidos Corporales , Etanol , Consumo de Bebidas Alcohólicas , Líquidos Corporales/química , Niño , Cromatografía de Gases , Etanol/análisis , Medicina Legal , Humanos , Lactante , MasculinoRESUMEN
OBJECTIVES OF THE STUDY: During the SARS-CoV-2 pandemic, the media has often mentioned the presence of quinine in tonic water. Media accounts of quinine's antiviral effect in vitro, as well as press reports about quinine-based compounds, such as hydroxychloroquine, have sparked renewed public interest in drinking tonic water, which could perhaps result in an increase in allergic phenomena. On the 200th anniversary of the discovery of quinine, our main objective was to analyze hypersensitivity reactions, related to the consumption of beverages containing quinine, described in the literature. PATIENTS AND METHODS: We analyzed case reports indexed on Pubmed, Scopus, and Google Scholar. A quinine causality score was calculated for each of the observations. A quinine assay was performed on several beverages for which the quinine content had not been published. RESULTS: In parallel with related pharmacokinetic studies, these case reports consist of 26 observations. The case reports mainly related to young men, with symptoms of varying severity, mainly dermatological, with fixed drug eruption, generalized rashes, hives; hematological, with thrombocytopenia, hemorrhagic syndrome, thrombotic microangiopathy; more rarely ocular, cardiac or auditory. The level of causality of quinine is certain for three cases, probable for twenty-two, possible for two. The levels of quinine, all conforming to the standards, were lower in the spirits and the cooked wine than those of tonic water. DISCUSSION: Possibly under-diagnosed, the main mechanism of these reactions is immuno-allergic, without any cross-reaction with other quinolines having been shown. In these patients and breastfeeding women of G6PD deficient newborns, any medicines, phytotherapy, homeopathy, or even cosmetics containing quinine, on the basis of a proposed list, should be avoided.
RESUMEN
BACKGROUND: Symptoms and clinical presentations of OTC deficiency vary widely according to the remaining activity of the enzyme. Three factors determine the residual enzyme activity. First, as the OTC gene is carried on the X chromosome, a complete inactivation of this enzyme in a newborn boy results an acute ammonia intoxication. Second, the female mosaicism due to lyonization (differential randomized X-inactivation) leads to differential OTC expression in hepatocytes. Third, the degree of severity depends on the mutation and the level of remaining activity it leaves to the protein. Published cases of OTC deficiency during pregnancy are scant. Most often, diagnosis of the metabolic disease is made before pregnancy or during the post-partum period. METHODS: We report the case of a 22-year-old woman's successful pregnancy with a moderate form of ornithine transcarbamylase (OTC) deficiency, unsuspected before pregnancy, biochemically consistent with plasma aminoacidogram and orotic acid analysis, and initially masked by malnutrition. RESULTS - CONCLUSION: Although maternal ammonia was subnormal and the neonate was safe, an OTC deficiency was revealed by stress factors such as the pregnancy itself and infection, and associated with uncontrollable maternal vomiting and psychiatric syndrome. However, this metabolic disease, revealed by aminoacidogram and urine orotic acid analysis, fortunately did not prevent a successful pregnancy. Even if infrequent, this situation deserves to be highlighted.
Asunto(s)
Desnutrición/diagnóstico , Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa/diagnóstico , Complicaciones del Embarazo/genética , Sepsis/diagnóstico , Vómitos/etiología , Antibacterianos/uso terapéutico , Antieméticos/uso terapéutico , Clorpromazina/uso terapéutico , Análisis Mutacional de ADN , Femenino , Humanos , Recién Nacido , Masculino , Desnutrición/complicaciones , Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa/genética , Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa/fisiopatología , Embarazo , Complicaciones del Embarazo/sangre , Complicaciones del Embarazo/tratamiento farmacológico , Complicaciones del Embarazo/fisiopatología , Resultado del Embarazo , Agitación Psicomotora , Sepsis/tratamiento farmacológico , Sepsis/fisiopatología , Resultado del Tratamiento , Adulto JovenRESUMEN
INTRODUCTION: Bisalbuminemias consist in rare qualitative modifications of several aspects in the albumin pattern. Bisalbuminemias, most of which are not pathological, can be observed using capillary electrophoresis. CASE REPORTS: We report a case of hereditary bisalbuminemia diagnosed by chance while exploring chronic unexplained hypereosinophilia in a 42-year-old patient. The patient's normal lipid profile, the lack of an antibiotic treatment or pancreatic pathology, and the persistence of the bisalbuminemia after one month, suggested a diagnosis of genetic bisalbuminemia. In light of other such cases, we review the main causes of bisalbuminemia, both genetic and acquired. CONCLUSION: The diagnosis of genetic bisalbuminemia is made by first eliminating the usual acquired etiologies: analytical or drug interference, acute pancreatitis and binding of immunoglobulins. Then, after having checked the lipemic index, reviewed the patient's medical history, comorbidities, and treatments, repeating the electrophoresis will help identify the cause of the bisalbuminemia.