The value of the metabolic autopsy in the pediatric hospital setting.
OBJECTIVE
To determine the utility of the metabolic autopsy in the hospitalized pediatric patient.


METHODS
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.
Ernst
Linda M
LM
Department of Pathology, Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. ernst@email.chop.edu
Sondheimer
Neal
N
Deardorff
Matthew A
MA
Bennett
Michael J
MJ
Pawel
Bruce R
BR
D001344:Autopsy / Q000379:methods*; D002675:Child, Preschool; D005260:Female; D006776:Hospitals, Pediatric; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008485:Medical Audit; D008659:Metabolic Diseases / Q000175:diagnosis*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D018579:Patient Selection