RESUMEN
As the result of improved death scene investigations and the performance of more thorough and thoughtful pediatric forensic autopsies, there has been a widespread increase in the recognition of asphyxial mechanisms of death as well as lethal natural diseases that might have otherwise been erroneously labeled as sudden infant death syndrome (SIDS) or sudden unexpected infant death (SUID). Although it is fair to state that "more thorough autopsies provide more thorough medical evidence" from which to draw upon when determining cause and manner of death, there is no standard, accepted baseline from which forensic pathologists operate. Although anatomic pathologists are quite accustomed to practicing within well-defined boundaries for specimen (and thus diagnostic) adequacy, forensic pathologists are frequently hesitant to embrace or adopt such concepts. This has made it difficult to evaluate standards of practice in forensic pathology. Recommendations have been developed and published by the National Association of Medical Examiners for the postmortem assessment of suspected infant head trauma. However, significant variation exists in the way autopsies are performed on infants without trauma, such as the common scenario of an infant who has died suddenly and unexpectedly of asphyxial or apparent natural means. A wide variety of autopsy techniques and ancillary studies are available to forensic pathologists, but as survey data indicates, are not consistently used throughout the United States. This paper will discuss the different components of the pediatric autopsy and make recommendations for the best use of available tests and consultation services.
RESUMEN
Recent evidence indicates that with thorough, high quality death investigations and autopsies, forensic pathologists have recognized that many unexpected infant deaths are, in fact, asphyxial in nature. With this recognition has come a commensurate decrease in, and in some cases, abolition of, the label "sudden infant death syndrome" (SIDS). Current controversies often pertain to how and why some infant deaths are determined to be asphyxial in nature and whether or not apparent asphyxial circumstances are risk factors for SIDS, or rather, harbingers of asphyxial deaths. In an effort to sidestep these controversies, some forensic pathologists elected to instead use the noncommittal label "sudden unexpected infant death" (SUID), leading to the unfortunate consequence of SUID - like SIDS - gaining notoriety as an actual disease that could be diagnosed, studied, and ultimately cured. Although it is not possible to provide death certification guidance for every conceivable type of unexpected infant death, we recognize and propose a simple classification system for overarching themes that cover the vast majority of cases where infants die suddenly and unexpectedly.
RESUMEN
When patients die after chiropractic or surgical interventions of the cervical spine, pathologists tasked with the autopsy are frequently overwhelmed by the complicated anatomy, laborious dissections, complex operative procedures and surgical hardware, and the necessity to differentiate artifacts from trauma and disease. However, abundant data can be obtained from careful evaluation of the cervical spine in situ; extensive postmortem diagnostic imaging procedures; detailed dissections of the removed, formalin-fixed and decalcified spine; and histology. This study presents a regimented, stepwise approach to the evaluation of the cervical spine in these difficult cases, promotes uniform assessment, facilitates diagnoses, and supports the accumulation of otherwise hard-to-come-by reference material that can be of value in future cases. The resultant detailed autopsy findings may prove useful in the medico-legal death investigation process. Autopsy findings may also be of great value to health care providers involved in quality assurance processes.
Asunto(s)
Autopsia/métodos , Vértebras Cervicales/patología , Manipulación Quiropráctica , Procedimientos Neuroquirúrgicos , Vértebras Cervicales/cirugía , Técnica de Descalcificación , Diagnóstico por Imagen , Documentación , Fijadores , Patologia Forense , Formaldehído , Humanos , Imagenología Tridimensional , Cuello/patología , Músculos del Cuello/patología , Fotograbar , Médula Espinal/patología , Arteria Vertebral/patologíaRESUMEN
Despite advances in the management of congenital heart disease (CHD), children with CHD who survive into adulthood are at increased risk of sudden death. Sudden death may also be the initial presentation of undiagnosed CHD in some adults. This retrospective descriptive study outlines the spectrum of CHD presenting as sudden death in adults in a medical examiner's population. Despite its rarity (0.2% of all cases investigated between 1991 and 2007), CHD remains an important cause of sudden cardiac death to be recognized at adult autopsy. Bicuspid aortic valve and anomalous coronary anomalies were the most common malformations, comprising 36.9% and 26.2% of cases, respectively. However, a wide spectrum of simple to complex malformations can be seen, with or without prior surgery, and over a wide age spectrum. Once solely a pediatric entity, CHD is now "grown-up" and will likely be diagnosed by forensic pathologists with increased frequency in the future.
Asunto(s)
Muerte Súbita/epidemiología , Muerte Súbita/etiología , Cardiopatías Congénitas/mortalidad , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Procedimientos Quirúrgicos Cardíacos/estadística & datos numéricos , Médicos Forenses , Femenino , Florida/epidemiología , Patologia Forense , Cardiopatías Congénitas/cirugía , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Distribución por Sexo , Adulto JovenRESUMEN
Gaucher disease is an autosomal recessive disorder resulting from deficient activity of the lysosomal enzyme glucocerebrosidase (GBA, E.C.3.2.1.45). Three clinical forms of Gaucher disease have been described: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic (OMIM 230800, 230900, 231000). Over the past decade, recognition of a distinct, perinatal lethal form of Gaucher disease (PLGD) has led researchers and clinicians to evaluate Gaucher disease in the differential diagnosis of congenital ichthyosis and nonimmune hydrops fetalis. To date, more than 30 cases of PLGD have been genotyped and reported. It has been observed that homozygosity for recombinant GBA alleles, which are fundamentally null alleles, leads to early lethality, usually in utero or during the 1st few days of life, whereas genotypes involving a recombinant allele and a missense mutation may be less detrimental. Here, we report a case of Gaucher disease with prenatal onset and death within hours of birth, likely due to compound heterozygosity for the GBA Rec Nci I null allele and a R131C missense mutation. In view of the patient's severe clinical course, and based on reviews of other PLGD cases, we postulate that a missense mutation that abruptly disrupts the structure/function of GBA, in combination with a null allele, may result in early lethality in patients with PLGD. We also speculate that R131C is an extremely severe mutation that has occurred more than once in different populations and, in either the homozygous form or heterozygous with another severe mutation, will result in a poor prognosis.
Asunto(s)
Enfermedad de Gaucher/genética , Glucosilceramidasa/genética , Mutación Missense , Secuencia de Bases , Resultado Fatal , Enfermedad de Gaucher/patología , Heterocigoto , Humanos , Recién Nacido , Masculino , Datos de Secuencia Molecular , Linaje , Polimorfismo de Longitud del Fragmento de Restricción , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
The discovery of acute rib fractures in deceased infants and young children can be unsettling. Although significant injuries may occur subsequent to resuscitative efforts in adults, it is well documented that such injuries are rare in much younger individuals. In particular, it is considered exceptional for rib fractures to follow cardiopulmonary resuscitation (CPR) on an infant; thus, some pathologists will consider such a discovery to be evidence of abuse. However, little is known about what, if any, injuries might occur subsequent to the delivery of "2-handed" CPR. Five unrelated, nonsequential cases of infant death are reported where multiple acute anterolateral rib arc fractures followed 2-handed CPR delivered by trained medical personnel.
Asunto(s)
Reanimación Cardiopulmonar/efectos adversos , Reanimación Cardiopulmonar/métodos , Fracturas de las Costillas/etiología , Servicios Médicos de Urgencia , Eritrocitos/patología , Femenino , Patologia Forense , Humanos , Lactante , Recién Nacido , Masculino , Estudios ProspectivosRESUMEN
Occasionally, individuals accused of inflicting fatal injuries on infants and young children will claim some variant of the "CPR defense," that is, they attribute the cause of injuries found at autopsy to their "untrained" resuscitative efforts. A 10-year (1994-2003) historical fixed cohort study of all pediatric forensic autopsies at the Miami-Dade County Medical Examiner Department was undertaken. To be eligible for inclusion in the study, children had to have died of atraumatic causes, with or without resuscitative efforts (N(atraumatic) = 546). Of these, 382 had a history of cardiopulmonary resuscitation (CPR; average age of 4.17 years); 248 had CPR provided by trained individuals only; 133 had CPR provided by both trained and untrained individuals; 1 had CPR provided by untrained individuals only. There was no overlap between these 3 distinct groups. Twenty-two findings potentially attributable to CPR were identified in 19:15 cases of orofacial injuries compatible with attempted endotracheal intubation; 4 cases with focal pulmonary parenchymal hemorrhage; 1 case with prominent anterior mediastinal emphysema; and 2 cases with anterior chest abrasions. There were no significant hollow or solid thoracoabdominal organ injuries. There were no rib fractures. The estimated relative risk of injury subsequent to resuscitation was not statistically different between the subset of decedents whose resuscitative attempts were made by trained individuals only, and the subset who received CPR from both trained and untrained individuals. In the single case of CPR application by an untrained individual only, no injuries resulted. The remaining 164 children dying from nontraumatic causes and who did not undergo resuscitative efforts served as a control group; no injuries were identified. This study indicates that in the pediatric population, injuries secondary to resuscitative efforts are infrequent or rare, pathophysiologically inconsequential, and predominantly orofacial in location. In our population, CPR did not result in any rib fractures or significant visceral injuries. Participation of nonmedical or untrained individuals in resuscitation did not increase the likelihood of injury.
Asunto(s)
Reanimación Cardiopulmonar/efectos adversos , Adolescente , Reanimación Cardiopulmonar/estadística & datos numéricos , Niño , Preescolar , Estudios de Cohortes , Equimosis/epidemiología , Equimosis/patología , Traumatismos Faciales/epidemiología , Traumatismos Faciales/patología , Patologia Forense , Humanos , Lactante , Recién Nacido , Intubación Intratraqueal/efectos adversos , Enfisema Mediastínico/epidemiología , Enfisema Mediastínico/patología , Boca/lesiones , Boca/patología , Piel/lesiones , Piel/patología , TóraxRESUMEN
The fundamental function of all North American systems of death investigation is to determine cause and manner of death. Modern teaching emphasizes the need to consider all investigative aspects including careful evaluation of the scene and circumstances, history, physical examination of the body, and ancillary laboratory studies, prior to death certification. This integrative approach to forensic pathology differs from an autopsy-focused practice whose function is to produce "anatomic" cause of death statements. Some individuals die under suspicious circumstances and, despite thorough autopsy, have no anatomic cause of death. In Miami-Dade County, when the preponderance of evidence and investigative data suggest homicide despite the absence of an identifiable cause of death, "homicide by unspecified means" has been used as a summative cause of death statement. The records of the Miami-Dade County Medical Examiner Department were searched for this diagnosis, identifying 18 such cases between 1990 and 2004. The characteristics of these cases are discussed. Guidelines for the use of this diagnostic label are provided.
Asunto(s)
Homicidio , Adolescente , Adulto , Médicos Forenses , Femenino , Humanos , Clasificación Internacional de Enfermedades , Masculino , Persona de Mediana Edad , Cambios Post Mortem , Heridas y Lesiones/patologíaRESUMEN
Acquired diverticula of the vermiform appendix are rare and arise as a result of different pathogenetic mechanisms. One of the etiologies includes proximally located, often unsuspected small neoplasms. Although the association of appendiceal diverticulosis and neoplasia is known, it remains underemphasized in the teaching and practice of surgical pathology. To investigate the frequency of appendiceal neoplasms with acquired diverticulosis, we conducted a retrospective analysis of all appendectomy specimens received in our institution for a 55-month period (January 2002-July 2006). A total of 1361 appendectomy specimens were identified. Diverticulosis was diagnosed in 23 (1.7%) of all cases. Eleven (48%) appendectomy specimens with diverticulosis also harbored an appendiceal neoplasm. The association of appendiceal neoplasms with diverticulosis was statistically significant (P < .0001, 2-sided Fisher exact test). Neoplastic processes included 5 well-differentiated neuroendocrine tumors (carcinoids), 3 mucinous adenomas, 1 tubular adenoma, and 2 adenocarcinomas. In one case, routine representative sections sampled only a small focus of carcinoma, which originally went undiagnosed. We stress the need for meticulous gross assessment with histologic examination of the entire appendectomy specimen in cases of appendiceal diverticulosis. Thorough examination is required to rule out an underlying neoplasm as a cause of diverticulosis. As acquired diverticula represent a rare finding, examination of the entire appendix in this setting does not create a significant impact on the workload within the pathologic laboratory.
Asunto(s)
Adenocarcinoma/patología , Neoplasias del Apéndice/patología , Apéndice/patología , Tumor Carcinoide/patología , Cistoadenoma Mucinoso/patología , Divertículo/patología , Adenocarcinoma/complicaciones , Apendicectomía , Neoplasias del Apéndice/complicaciones , Apendicitis/patología , Apendicitis/cirugía , Tumor Carcinoide/complicaciones , Cistoadenoma Mucinoso/complicaciones , Divertículo/complicaciones , Humanos , Estudios RetrospectivosRESUMEN
Injuries and deaths from exposure to caustic substances are infrequently reported in the forensic pathology literature. Strong acids like sulfuric acid produce a predictable set of injuries with cutaneous exposure and ingestion. Multiple factors influence the resultant pathology, but from the perspective of the autopsy pathologist, the most important is the length of postingestion survival. We report the case of a young man whose desire to 'clean his honor' was manifested through the consumption of a large quantity of sulfuric acid drain cleaner. Although a myriad of physical findings were present at autopsy, the majority of these most likely represented the postmortem action of sulfuric acid on tissues.
Asunto(s)
Quemaduras Químicas/patología , Cáusticos/envenenamiento , Ácidos Sulfúricos/envenenamiento , Administración Oral , Adulto , Cáusticos/administración & dosificación , Patologia Forense , Humanos , Hígado/patología , Masculino , Músculo Esquelético/patología , Cavidad Pleural/patología , Costillas/patología , Ácidos Sulfúricos/administración & dosificaciónRESUMEN
Sudden death due to undiagnosed central nervous system tumors is an uncommon, but well-described occurrence. Most of the tumors in these circumstances are supratentorial and occur in a wide spectrum of ages. Brainstem tumors are more rare and occur predominantly in the pediatric and adolescent populations. We present the case of a 48-year-old man who died suddenly and unexpectedly of a brainstem glioma. This case is unusual because of his age and the paucity of antecedent symptoms.