The goal of this presentation is to underline the difficulty of diagnosis of SIDS. According to San Diego SIDS diagnostic criteria, a clinical, anamnestic, circumstantial, and autoptic investigation must be performed. In most of cases death remains unjustified after the diagnostic procedures and SIDS is unresolved. This presentation concerns a case of resolved SIDS, in which the postmortem investigation led to diagnosis of dilated cardiomyopathy (DCM) with endocardial fibroelastosis, associated to tubular hypoplasia of the aorta and inborn errors of metabolism. This presentation will impact the forensic science community by showing the difficulty to diagnose clinical silent cardiomyopathy in children younger than one year old, and so an accurate clinical, anamnestic, circumstantial and instrumental investigation can lead to a timely diagnosis of DCM in life.

Inborn Errors of Metabolism Explain a Suspected SIDS Case.

NERI, Margherita;
2012

Abstract

The goal of this presentation is to underline the difficulty of diagnosis of SIDS. According to San Diego SIDS diagnostic criteria, a clinical, anamnestic, circumstantial, and autoptic investigation must be performed. In most of cases death remains unjustified after the diagnostic procedures and SIDS is unresolved. This presentation concerns a case of resolved SIDS, in which the postmortem investigation led to diagnosis of dilated cardiomyopathy (DCM) with endocardial fibroelastosis, associated to tubular hypoplasia of the aorta and inborn errors of metabolism. This presentation will impact the forensic science community by showing the difficulty to diagnose clinical silent cardiomyopathy in children younger than one year old, and so an accurate clinical, anamnestic, circumstantial and instrumental investigation can lead to a timely diagnosis of DCM in life.
Dilated Cardiomyopathy, Inborn Errors of Metabolism, Sudden Infant Death Syndrome
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11392/2357188
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact