Assuntos
Alérgenos/uso terapêutico , Hipersensibilidade a Drogas/diagnóstico , Face/patologia , Alérgenos/imunologia , Angioedema , Betametasona/uso terapêutico , Criança , Clorexidina/imunologia , Clorexidina/uso terapêutico , Hipersensibilidade a Drogas/tratamento farmacológico , Humanos , Hipersensibilidade Imediata , Imunoglobulina E/metabolismo , Loratadina/análogos & derivados , Loratadina/uso terapêutico , Masculino , Testes Cutâneos , Triptases/sangue , UrticáriaRESUMO
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.
Assuntos
Carnitina/análogos & derivados , Hepatomegalia/patologia , Imageamento por Ressonância Magnética , Morte Súbita do Lactente/diagnóstico , Morte Súbita do Lactente/etiologia , Carnitina/sangue , Carnitina O-Palmitoiltransferase/deficiência , Causas de Morte , Diagnóstico , Fígado Gorduroso/patologia , Humanos , Lactente , Masculino , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/patologia , Mudanças Depois da Morte , Morte Súbita do Lactente/patologiaRESUMO
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.
