Reichard, R. Ross

Adult polyglucosan body disease (APBD) is a rare neurodegenerative condition characterized by typical onset in middle age, progressive neurological impairment that is heterogeneous between cases, and death within 1-14 years of diagnosis. The histopathologic hallmark of the disease is massive deposition of corpora amylacea (designated polyglucosan bodies in this context) in the central nervous system, and variable deposition of similar material in other sites. While the cause of the disease is as yet unknown, recent research has identified mutations in proteins involved in glycogen metabolism in a subset of cases. In this paper, we present a case of unexpected death wherein APBD was diagnosed at forensic autopsy. This represents the first report of an unexpected death due to this disease reported in the medical and forensic literature.

The medicolegal autopsy is part of a death investigation that determines the cause and manner of death and the extent of the testing performed is variable and is directed by the specifics of a particular case. Published studies disagree on the value of routine examination of microscopic sections of internal organs in forensic cases and no studies have specifically reviewed the utility of routine neuropathology microscopic sections. We reviewed the Miami-Dade County Medical Examiner Department and Mayo Clinic computer databases to determine whether routine brain histology is of value in medicolegal autopsies and the impact on the cause and manner of death. Consecutive cases from each institution were analyzed to determine whether the microscopic neuropathological findings revealed a previously unrecognized disease, changed the cause or manner of death, or significantly impacted the death investigation. In the cases in which the immediate cause of death was attributable to central nervous system (CNS) pathology, the cause of death was readily apparent from the gross brain examination. If CNS pathology was the proximate cause of death, contributed significantly to the death, or was a significant part of the death investigation, full appreciation of the neuropathology required microscopic examination and often additional special/immunostains. We conclude that microscopic brain examination is needed in selected medicolegal autopsies to exclude and/or diagnose underlying disease processes, particularly if the gross examination doesn't reveal an obvious explanation of the CNS pathology or the clinical history suggests underlying neuropathology.

Increased age is a significant risk factor for the development of dementia, predominately Alzheimer disease (AD). Since the fastest growing population sector in the United States is individuals over the age of 85 years, a surge in cases of dementia is expected. The inherent features of dementia mean those affected will eventually be incapacitated and require a high level of medical care. The majority of individuals dying from the complications of dementia will be under the care of a physician. However, dementia is a significant morbidity and demented patients are at risk from dying of non-natural causes (e.g., neglect/abuse or accidental injury) that necessitates the medical examiner/coroner (ME/C) to determine if the individual was incapacitated by a neurodegenerative process. The definitive diagnosis of a specific type of dementia requires a postmortem neuropathological examination. This paper provides a concise description of and a practical neuropathological algorithmic approach to the diagnosis of the most common neurodegenerative diseases.

A complex set of systems exists in the United States to manage and regulate the practice of medicine, and forensic pathologists (FPs) are bound by the associated ethical guidelines and associated statutory obligations. Individual FPs, for example, are required to have and maintain a state medical license that requires continuing medical education and provides oversight of many aspects of the practice of medicine. The laboratories in which forensic pathology is practiced, however, generally do not have to be accredited. In contrast, the College of American Pathologists (CAP) is the recognized accrediting body that “regulates” the majority of anatomic pathology and laboratory medicine, including hospital (consented) autopsies. Unlike hospital-based pathology practices, few incentives are present that encourage or require forensic pathology practices to pursue accreditation. Since the preponderance of forensic pathology practices do not fall under the purview of CAP, this relatively small subset of pathologists are left to determine their own set of professional and ethical standards. The National Association of Medical Examiners (NAME) laboratory accreditation and published autopsy guidelines provides a foundation for development of a quality management program, but does not specifically address disclosure of test results. Defining “critical diagnoses” in forensic pathology is challenging, and communicating these important findings to the proper individual(s) or organizations may not fall under statutory or accrediting requirements, and thus may become an ethical issue for the medical examiner/coroner.

Epilepsy is commonly encountered in forensic pathology and is ultimately determined to be the cause of death in 1–2% of medicolegal death investigations. Epilepsy is a risk factor for death from external causes, including accidents and drowning. More commonly, deaths result from the underlying epilepsy pathology, including intracranial neoplasms, cerebrovascular disease, status epilepticus, and sudden unexpected death in epilepsy (SUDEP). SUDEP refers to the sudden death in an epilepsy patient that lacks an alternative anatomic or toxicological cause of death. At autopsy, intracranial pathology is present in the majority of epilepsy-related deaths and is more likely to be identified following brain fixation. Common findings include brain tumors, mesial temporal sclerosis, and malformations of cortical development. Death investigators should pay particular attention to clinical history to establish a clear history of epilepsy and to determine seizure type, frequency, underlying etiology, and prior medical and surgical treatments as well as other comorbid medical conditions. A complete autopsy with toxicology is necessary to identify other causes of death, particularly in cases of suspected SUDEP. While toxicology may be helpful in some cases, caution must be taken in interpreting postmortem antiepileptic drug concentrations as levels decrease postmortem.

Exploding targets are marketed for their ability to indicate long-range marksmanship by detonating upon high velocity impact. The Internet has popularized recreational use of these targets outside of the scope of their intended design. We present a case of a 47-year-old man who was a bystander during recreational use of exploding targets. A .300 Winchester Magnum rifle was used to detonate an exploding target, on top of which was placed a fire extinguisher inside an aluminum pipe. The decedent was struck in the abdomen by a fragment of aluminum and collapsed. Despite emergency efforts at the scene, he was pronounced dead. Scene investigation revealed aluminum fragments throughout the blast radius. External examination and postmortem radiograph showed an entry wound of the left mid-abdomen without evidence of retained shrapnel. The autopsy findings included a hemoperitoneum due to transection of the right common iliac artery and inferior vena cava. A 10.6 g fragment of aluminum was recovered from within the abdomen. This case illustrates a dangerous misuse of exploding targets that has been popularized in the media. It also exemplifies a potential pitfall of a negative radiograph, despite the presence of metal shrapnel, because of the radiolucency of aluminum.