Do autopsies and perimortem testing still have a place in today's world of medicine?

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2020

Authors

Wilson, Don
Eng, Ryan
Hamilton, Luke

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Background: Autopsies and perimortem testing have previously been a staple for improving patient care and expanding the field of medicine. In recent decades, autopsy rates have dropped dramatically, with current estimates of autopsy rates at 5%, yet data shows that clinical diagnoses are significantly less accurate than autopsy findings. In this case report, we aim to demonstrate the continued importance of autopsies using the case of a boy who passed away due to undiagnosed adrenoleukodystrophy (ALD). Case Information: An 8-year old male with a long history of severe headaches, emesis, and dehydration presented to Cook Children's Medical Center ICU after undergoing cardiac arrest. Workup of the patient did not find an etiology of these symptoms and the patient expired. Prior to expiration, a discussion was had with the parents about collecting samples for peri-mortem testing to determine cause of death. Whole exome sequencing (WES) of a peri-mortem blood sample revealed an ABCD1 variant, allowing the diagnosis of ALD. The patient's family members were recommended for genetic testing. Conclusions: Autopsy and perimortem testing were necessary to determine the patient's cause of death, which was not detected by routine pediatric screening or workup upon admission to the ICU. The patient's diagnosis proved especially important as it allowed family members to be referred to genetic counseling. Despite advances in diagnostic techniques, perimortem testing remains beneficial in cases of unknown or uncertain diagnoses, as seen in this case report.

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