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8 - The metabolic disease autopsy

Published online by Cambridge University Press:  05 September 2014

By
Kevin Bove  and
Simon Olpin
Edited by
Marta C. Cohen  and
Irene Scheimberg
Kevin Bove
Affiliation:
University of Cincinnati College of Medicine
Simon Olpin
Affiliation:
Sheffield Children’s Hospital, Sheffield, UK
Marta C. Cohen
Affiliation:
Sheffield Children’s Hospital
Irene Scheimberg
Affiliation:
Barts and the London NHS Trust, London
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Summary

Introduction

When an infant or young child dies suddenly or after a brief hospitalization, without a specific diagnosis, and is suspected by the clinician to have a metabolic disease, an important question for the pathologist is which investigations to pursue as part of the autopsy. In this situation, both the clinician and the pathologist are seriously disadvantaged. Many metabolic diseases evolve slowly, meaning time is needed for recognition followed by thoughtful disease-focused ante-mortem diagnostic testing. When this luxury has been preempted by circumstances, the quest for understanding the biological basis for a seemingly inexplicable death is not hopeless. In fact, the possibility for success using modern tools has never been greater.

To determine how to proceed, a pre-autopsy discussion between the pathologist and the clinician is essential. Issues of cost and reimbursement eventually emerge, but this can be managed by making choices focused and dictated by the situation at hand in order to have the greatest chance of success. The essential components of a systematic assessment reside in the details of clinical presentation, the family history, the available ante-mortem laboratory data, and the gross and microscopic findings. This information will influence the details of specimen collection and guide subsequent decisions about testing.

Type
Chapter
Information
The Pediatric and Perinatal Autopsy Manual , pp. 120 - 138
Publisher: Cambridge University Press
Print publication year: 2000

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