The value of the metabolic autopsy in the pediatric hospital setting - 10/08/11
Résumé |
Objective |
To determine the utility of the metabolic autopsy in the hospitalized pediatric patient.
Study design |
This was a retrospective review of all metabolic autopsies performed at a large pediatric hospital over a 5-year period. Premortem clinical diagnoses were correlated with autopsy findings and results of postmortem testing.
Results |
Of the 23 metabolic autopsies performed, a metabolic disorder was diagnosed before death in 4 and after death by extensive studies initiated before death in 2. In the remaining 17 cases, postmortem samples were inadequate for subsequent enzymatic analysis in 2, a nonmetabolic explanation for symptoms was identified in 4, and no unifying diagnosis could be defined in 8. A metabolic disorder was diagnosed by postmortem tissue study in 3 of the 17 cases; in all 3 of these cases the patient died in the neonatal period after limited premortem investigation for primary lactic acidosis. For the 8 subjects who had undergone an extensive laboratory workup before death, in each case metabolic autopsy failed to establish a diagnosis.
Conclusions |
In a small but significant percentage of cases (18%), the metabolic autopsy successfully identified an undiagnosed metabolic disease. However, metabolic autopsy following an extensive nondiagnostic clinical workup is unlikely to yield a specific metabolic diagnosis.
Le texte complet de cet article est disponible en PDF.Abbreviations : CHOP, OTC
Plan
None of the authors has any real or perceived conflict of interest in relation to the study design, data collection, data analysis, data interpretation, manuscript writing, or decision to submit the manuscript for publication. Linda Ernst wrote the first draft of the manuscript. No honorarium, grant, or other form of payment was given to anyone to produce the manuscript. |
Vol 148 - N° 6
P. 779-783 - juin 2006 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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