American Journal of Forensic Medicine and Pathology最新文献

Myotonic dystrophy type 1, or dystrophia myotonica type 1 (DM1), is a multisystem disorder inherited in an autosomal dominant manner. It is caused by a CTG tri-nucleotide expansion in the 3'-untranslated region (3'-UTR) of the dystrophia myotonia protein kinase ( DMPK ) gene. Core clinical features include progressive skeletal muscle weakness, myotonia, and systemic complications, with premature mortality most often due to respiratory or cardiac dysfunction. We report the case of sudden death in a 48-year-old woman with a prior clinical diagnosis of DM1, who had not undergone adequate neuromuscular evaluation or surveillance. Postmortem examination revealed severe bilateral diaphragmatic eventration and restrictive lung pathology, consistent with severe respiratory compromise. The diagnosis of DM1 was confirmed at autopsy through gross and histologic findings, supported by molecular testing during the medicolegal autopsy. This case highlights the underappreciated risk of fatal respiratory failure in DM1, particularly in patients lacking longitudinal cardiopulmonary monitoring. The case also represents an example of a rarely reported autopsy finding in adults dying from DM1-bilateral diaphragmatic eventration.

Abstract: Deaths in water present unique challenges for forensic experts, particularly the impact of ichthyofauna on human remains. Species of necrophagous-carnivorous fish can rapidly consume bodies in shoals, obliterating crucial evidence. As a result, determining the cause of death and identifying the deceased become more difficult. This study reports a case of a human body skeletonized in less than 24 hours by ichthyofauna following an accidental fall into the Amazon River. Only cartilaginous structures of the nose and ears, the male genitalia, and the feet and hands of the individual remained. The latter exhibited punch-out-shaped wounds. While the cause of death remained inconclusive, identification was achieved through fingerprint analysis. Forensic experts must recognize the role of necrophagous ichthyofauna to prevent misinterpretation of wounds, facilitate accurate cause-of-death investigations, and expedite human identification.

Abstract: Sudden cardiac death (SCD) is a known risk of hypertrophic cardiomyopathy (HCM), especially in asymptomatic and younger (<35 years old) populations. There are several mutations that cause HCM, most notably within the MYBPC3 and MYH7 genes. ALPK3 (alpha protein kinase 3) has been identified as a gene of interest in HCM, specifically associated with late-onset adult HCM or pediatric cases which typically present with musculoskeletal and facial deformities. In this report, we present a case of SCD due to HCM in a young, reportedly asymptomatic patient without dysmorphia that had a specific mutation of the ALPK3 gene and a striking gross pathological appearance previously undiscussed in literature.

Retinal hemorrhages commonly cooccur with abusive head trauma (AHT). While wide-field fundus photography is crucial for documenting retinal hemorrhage in living children, in fatal cases, a pathologic examination is traditionally used. This report describes the case of a 4-year-old girl who died of head trauma suspected to have been caused by physical abuse. Before the autopsy, wide-field fundus photography using scanning laser ophthalmoscopy (SLO) was performed to document retinal hemorrhages. Imaging revealed that retinal hemorrhages were predominantly located at the posterior pole and in the peripheral retina of the right eye. The autopsy confirmed cranial injuries, including acute subdural hematoma. Pathologic examination of the eyes revealed hemorrhages beneath the internal limiting membrane and within the inner to outer nuclear layers of the retina. The cause of death was determined to be head trauma leading to an acute subdural hematoma. This case confirms that wide-field fundus photography using SLO can be performed postmortem, supplementing pathologic findings. Postmortem fundus photography, particularly using SLO, has the potential to reduce the risk of artifact introduction during the preparation of traditional specimens. Additional case studies are required to further refine the use of this technique and establish its potential forensic application in the diagnosis of AHT.

Abstract: Postmortem tryptase is an adjunct test to assist in diagnosing fatal anaphylaxis. A series of recent studies have shown that postmortem total tryptase concentrations/levels varied between central and peripheral blood samples in normal population. However, it is unclear whether it also varies between central and peripheral blood samples in fatal anaphylaxis. We document a death from anaphylaxis triggered by radiocontrast. Postmortem total tryptase concentrations/levels in arterial and venous central blood collected from the aorta and inferior vena cava were >200 μL/L, whereas arterial and venous peripheral blood collected from femoral artery and veins were ~110 μg/L. This case report provides evidence that postmortem total tryptase concentrations/levels also vary in central and peripheral blood samples in anaphylactic deaths.

Abstract: Death from myocarditis due to Lyme disease is uncommon but may be under-recognized. Myocarditis can lead to sudden and/or unexpected death due to fatal cardiac arrhythmias, which may be misattributed to more common causes, such as coronary artery disease. We report an unexpected death in a 69-year-old man from a Lyme-endemic area who had multiple cardiovascular risk factors. His death was initially attributed to coronary artery disease by the local coroner's office but was later confirmed to be due to Lyme disease, based on positive serological testing, characteristic cardiac histopathology findings, and the detection of Borrelia burgdorferi spirochetes, antigens, and DNA in the heart using various methods. Forensic pathologists should maintain a high suspicion of Lyme carditis, particularly in cases of sudden/unexpected death in Lyme-endemic areas. A history of rash or recent insect bites should prompt serologic testing for Lyme disease.

Epstein-Barr virus (EBV), typically known for a self-limited infection, the "infectious mononucleosis" (IM), can rarely provoke cardiac complications. We present here a case of fatal EBV myopericarditis in a young adult recently diagnosed with IM. A 16-year-old patient, whose medical history was characterized by multiple chronic pathologic conditions, was diagnosed with IM during a hospitalization. A month after discharge, he was admitted to the hospital, where an exacerbation of chronic pericarditis was diagnosed. Then, a few hours later, the patient died. Autopsy, histologic, and microbiological examinations were performed. Internal examination demonstrated opalescent and thickened pericardium, containing 180 mL of a yellowish clear effusion. The epicardium was opalescent and thickened. Cardiac microscopical examination demonstrated a diffuse and intense inflammatory infiltrate of myocardium and pericardium, associated with focal myocyte necrosis. Qualitative real-time polymerase chain reaction, performed in the pericardial effusion, tested positive for EBV DNA. The cause of death was identified as a fatal moderate-to-severe myopericarditis caused by EBV that occurred in a young adult with multiple chronic pathologic conditions. This case report emphasizes that EBV infection should be considered as a cause of sudden death due to cardiac complications in young patients with a recent diagnosis of IM.

Although arachnoid granulations (AGs) and their pits have been known for over 300 years, they have not been extensively studied regarding the injuries inflicted upon them. This study aims to identify the injuries sustained by the AGs and their pits in cases involving head injuries. The study involved autopsies of 130 bodies with head injuries and 40 without head injuries. The AGs and their respective pits were examined for morphology, types, injuries, and histology. Injuries in AGs and their pits were documented in 61 cases. Intradiploic, irregular AGs, and their pits are more susceptible to injury. AGs and pits in the occipital and temporal bones are particularly vulnerable to damage. In 19 cases, the dura at the base of the AGs showed intradural hemorrhages near the site of direct impact, and 52 cases exhibited fractures at the edges of the pits in the inner skull table, opposite the impact site. It is notable that only individuals aged 26 years and older are at risk for these injuries. Sex did not influence susceptibility.