Asunto(s)
Alérgenos/uso terapéutico , Hipersensibilidad a las Drogas/diagnóstico , Cara/patología , Alérgenos/inmunología , Angioedema , Betametasona/uso terapéutico , Niño , Clorhexidina/inmunología , Clorhexidina/uso terapéutico , Hipersensibilidad a las Drogas/tratamiento farmacológico , Humanos , Hipersensibilidad Inmediata , Inmunoglobulina E/metabolismo , Loratadina/análogos & derivados , Loratadina/uso terapéutico , Masculino , Pruebas Cutáneas , Triptasas/sangre , UrticariaRESUMEN
Inherited metabolic disorders are the cause of a small but significant number of sudden infant deaths in infants. We report on a boy who suddenly died at 10 months of age during an acute illness. Parents declined autopsy; nevertheless, they accepted a whole body MRI, which revealed hepatomegaly with steatosis. Acylcarnitine profile of a blood sample from neonatal Guthrie screening led to the diagnosis of type 2 carnitine palmitoyltransferase deficiency. To conclude, whole body MRI is useful in the investigation of some inherited metabolic causes of sudden infant death, which might prevent future deaths in the family. It is a good alternative when autopsy is refused.
Asunto(s)
Carnitina/análogos & derivados , Hepatomegalia/patología , Imagen por Resonancia Magnética , Muerte Súbita del Lactante/diagnóstico , Muerte Súbita del Lactante/etiología , Carnitina/sangre , Carnitina O-Palmitoiltransferasa/deficiencia , Causas de Muerte , Diagnóstico , Hígado Graso/patología , Humanos , Lactante , Masculino , Errores Innatos del Metabolismo/complicaciones , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/patología , Cambios Post Mortem , Muerte Súbita del Lactante/patologíaRESUMEN
Staphylococcus aureus carrying the Panton-Valentine leukocidin (PVL) gene could be the source of both recurrent furunculosis or abscesses and severe infections, mainly necrotising pneumonia. We present the case of a young girl from consanguineous parents who died suddenly. The postmortem examination revealed necrotising pneumonia due to a PVL producing Staphylococcus aureus strain, raising the question of the role of the host's immune status in this infection.
