Background In pediatric abusive head trauma (AHT), retinal hemorrhages are a key diagnostic feature. Detection by fundoscopy may be delayed or limited, whereas magnetic resonance imaging (MRI) enables non-invasive, objective assessment on routine brain sequences. Objective To evaluate the diagnostic utility of different MRI sequences-particularly susceptibility-weighted imaging (SWI), T2*-weighted (T2*w), and morphological sequences-in detecting retinal hemorrhages in AHT. Materials and methods In this retrospective multicenter study (2006-2015), 57 well-documented AHT cases from three German institutions were analyzed. A subgroup consisted of "confession cases." MRI scans were reviewed for retinal hemorrhages across SWI, T2*w, T1-weighted, T2-weighted (T2w), and fluid-attenuated inversion recovery (FLAIR) sequences by blinded expert readers. Fundoscopy results served as the gold standard. Sensitivities were calculated for each sequence, and "confession" versus "non-confession" cases were compared. Results Fundoscopy detected retinal hemorrhages in 44 of 56 evaluable cases (78.6%). MRI identified retinal hemorrhages most frequently on gradient recalled echo sequences, with SWI showing higher sensitivity compared to T2*w (76.9% vs. 47.8%). T2w imaging showed markedly lower sensitivity (30.3%) but detected retinal hemorrhages on one eye missed on T2*w imaging in two cases. In three cases, MRI detected retinal hemorrhages not reported on fundoscopy. No statistically significant differences were found between "confession" and "non-confession" cases across all parameters considered (P>0.05). Conclusion MRI-particularly SWI and, to a lesser extent, T2*w imaging-may offer a useful tool of detecting retinal hemorrhages in AHT when fundoscopy is limited. T2w imaging may provide complementary information in selected cases.
A deeper understanding of extensive brain lesions (EBL) in pediatric abusive head trauma (AHT) could possibly help differentiate AHT from other forms of trauma. Therefore, the aims of the study were (i) to investigate the prevalence and features of AHT-associated EBL in neuroimaging and (ii) to develop a useful classification system. This retrospective multicenter study analyzed cranial CT and/or MRI of medico-legally well-documented AHT cases diagnosed with “shaken baby syndrome” from a 10-year study period with respect to lesions in cerebrum, cerebellum, and brain stem. For the development of a classification system, EBLs were grouped into distinct lesion patterns based on laterality, symmetry, distribution, and shape. A total of 61 AHT cases were included. Comparison between “confession cases” (n = 15) and “non-confession cases” (n = 46) did not show any statistically significant difference regarding all parameters analysed. EBL were found in 1/3 of the cases (n = 20). Brain stem lesions were only rarely observed (n = 2). Nine different and partly new patterns of EBL occurring in AHT by shaking are described. Pattern analysis revealed that most lesions can be caused by hypoxic-ischemic injury, but evidence is provided that additional pathomechanisms, such as hypoglycemia and the “second impact syndrome”, may be causative or a component. Brain lesions in AHT by shaking form typical patterns that can be categorized. Considering the rare observation of brain stem lesions, the widespread hypothesis of primary brain stem lesions leading to initial respiratory insufficiency in AHT by shaking should be questioned. Question Current data on extensive brain lesion patterns in abusive head trauma are insufficient with regard to nomenclature, pathophysiology, and a classification system. Findings Nine different patterns of extensive brain lesions were found in abusive head trauma by shaking, which indicates different pathomechanisms and may help diagnose child abuse. Clinical relevance Consideration of the identified lesion patterns provides new insights into underlying pathomechanisms and supports the clinical diagnosis of abusive head trauma.
Estimating the age of injury in pediatric abusive head trauma (AHT) is a challenging task but potentially valuable for the identification of perpetrators. The aims of the study are (1) to describe the temporal development of different imaging features of subdural collections (SDCs), and (2) to provide novel age-diagnostic reference data for forensic-radiological expert reports. Using a multi-center approach and a 10-year study period, serial neuroimaging studies of 13 comprehensively investigated AHT cases (8 CT and 26 MRI scans) were analyzed regarding several subdural imaging parameters (SDC appearances, entities, components, and associated findings). Due to confessions by perpetrators, the time points of the trauma were presumed unique and known in all cases facilitating correlation of imaging findings with time. Hyperdense SDCs in CT were found up to 9 d post-injury (p.i.), CSF-like SDCs in CT or MRI as early as from the 3rd hour p.i., and subdural membrane formation as late as from day 283. The heterogeneous variant of the subdural hematohygroma was observed to be the dominant SDC entity between 3 h and 22 d p.i. The tadpole sign was detected in MRI between 3 h and 46 d p.i. Certain subdural imaging findings may be helpful for estimating the age of injury in AHT. Subdural membrane formation is demonstrated to be a late finding and the tadpole sign is an early phenomenon p.i. The data corroborated that the sediment but not the supernatant has the potential for being valuable for age-diagnostic aspects. Question Reliable evidence-based data on the development of SDCs is sparse but required for expert opinions on pediatric AHT. Findings Reference data on the evolution of the imaging appearance of SDCs and associated phenomena in confirmed cases of AHT are provided. Clinical relevance As there is a great need for estimating the age of injury in criminal and civil proceedings, many clinical radiologists are confronted with the diagnostic and forensic aspects of AHT that are addressed in the present study.
Central nervous system-associated lesions can frequently be found in abusive head trauma (AHT) cases. Since there are frequently no visible signs of injury on the body surface, the diagnosis of AHT can be challenging. In particular, if the affected child shows only isolated neurological symptoms, these are often misinterpreted as a minor illness. Using a retrospective study design at three university hospitals, 72 medico-legal cases of "shaken baby syndrome" - a common variant of AHT - were analyzed. A comparison between confession cases (n=15) and non-confession cases was used in order to reduce the risk of circular reasoning. The most common neurological symptoms in the present cases were: epileptic seizures (44 %), pallor (37 %), somnolence (31 %), reduced muscle tone (25 %), vomiting (20 %) and unconsciousness (15 %). There were also no statistically significant differences between confession and non-confession cases, nor when comparing the simultaneous presence of skin or skeletal lesions. The combination of several symptoms serves as an indicator for the presence of AHT and should lead to further diagnostic measures under the hypothesis of the presence of an AHT in clinical observation.
This article demonstrates the tremendous importance of the correct classification of manner of death on the example of an undetected fatal shaken baby syndrome. The death of a baby (6 month old) with apnea, subdural and retinal hemorrhages was classified as natural causes. The Youth Welfare Office and the police were only informed when the younger brother was admitted to the intensive care unit 8 months later. He showed similar symptoms and was in a critical condition. This could have been prevented if the death of the older brother had been classified as unnatural and the police could have investigated earlier.
Background: Pulmonary fat embolism (PFE) is a condition that can occur after trauma or surgery, among other events. Obstruction of the pulmonary circulation by fatty particles can lead to cardiorespiratory symptoms. The aim of this study was to determine clinical or pathophysiological risk factors, such as concomitant diseases and body characteristics, of individuals who died from PFE. Method: At the Institute of Forensic Medicine, Munster University Hospital, PFE was reported as the cause of death in 27 autopsies between 1993 and 2017. The autopsies and histology findings, Sudan staining, and histological grading of PFE according to Falzi form the basis of this study. The control group included 27 traumatic deaths (1995-2017) in which PFE could not be detected. Heart weight, body mass index (BMI), survival time, injury severity and chronic pulmonary emphysema (CLE) diagnosis were compared by the Mann-Whitney U test and chi(2)-test. Results: The gender distribution in the study and control groups was 63% women vs. 37% men. The age in the study group ranged from 56 years to 93 years vs. 51 years to 89 years in the control group. The mean BMI was 25.6 kg/m(2) in the study group and 25.3 kg/m(2) in the control group. CLE was present as a concomitant disease in 15 cases in the study group (56%) vs. 10 cases in the control group (37%). Myocardial hypertrophy was diagnosed in 20 cases (74%) in the study group. The mean myocardial weight was 434 g (female) and 496 g (male). A heart weight of 500 g was exceeded in 9 cases (33%). In the control group, the mean myocardial weight was 349 g (female) and 384 g (male), and a heart weight of 500 g was exceeded twice. The difference in the distribution of heart weights was statistically significant (p = 0.001) but not for the other parameters investigated. Conclusion: In this relatively small study population, there was a statistically significant association between heart weight/myocardial hypertrophy and fatal PFE. If this result is confirmed in further studies, myocardial hypertrophy represents a risk factor for fatal PFE. A statistically significant association between BMI, survival times, injury severity or a diagnosis of CLE and death from PFE was not found.
The out-of-hospital cardiac arrest (OHCA) in the young may be associated with a genetic predisposition which is relevant even for genetic counseling of relatives. The identification of genetic variants depends on the availability of intact genomic DNA. DNA from autopsy may be not available due to low autopsy frequencies or not suitable for high-throughput DNA sequencing (NGS). The emergency medical service (EMS) plays an important role to save biomaterial for subsequent molecular autopsy. It is not known whether the DNA integrity of samples collected by the EMS is better suited for NGS than autopsy specimens. DNA integrity was analyzed by standardized protocols. Fourteen blood samples collected by the EMS and biomaterials from autopsy were compared. We collected 172 autopsy samples from different tissues and blood with postmortem intervals of 14–168 h. For comparison, DNA integrity derived from blood stored under experimental conditions was checked against autopsy blood after different time intervals. DNA integrity and extraction yield were higher in EMS blood compared to any autopsy tissue. DNA stability in autopsy specimens was highly variable and had unpredictable quality. In contrast, collecting blood samples by the EMS is feasible and delivered comparably the highest DNA integrity. Isolation yield and DNA integrity from blood samples collected by the EMS is superior in comparison to autopsy specimens. DNA from blood samples collected by the EMS on scene is stable at room temperature or even for days at 4 °C. We conclude that the EMS personnel should always save a blood sample of young fatal OHCA cases died on scene to enable subsequent genetic analysis.
PURPOSE:Subdural collections (SDCs) represent a key finding in abusive head trauma (AHT), a serious form of child physical abuse. Common SDC entities in this context are subdural hematoma (SDH), subdural hygroma (SDHy), subdural hematohygroma (SDHHy), and chronic subdural hematoma (cSDH). The present study examines the prevalence of the different SDC entities and investigates the influence of the SDC diagnosis on the forensic age estimation of the injury. METHODS:In this retrospective multi-center study from three German university hospitals of a 10-year period, the initial neuroimaging material (CT or MRI) of 56 children (36 males, 20 females; age median 3.9 months) with medico-legally well-documented AHT was analyzed. SDCs were characterized by determining presence, location, extension, and visual appearance, by assigning to one of the five entities, and by categorizing with three different classification systems, one of which represents a novel system based on focality and Mixed Appearance Pattern and especially developed for children with AHT. The data were correlated with demographic and clinical data. By means of court files, AHT cases were also sub-divided into confession (n = 14) and non-confession cases (n = 42) and then compared. RESULTS:Most cases showed a multifocal presence of SDCs (96.4%) and the presence of a Mixed Appearance Pattern (82.1%). The most common SDC entity was the heterogeneous variant of the SDHHy (66.1%). The cSDH occurred infrequently only (3.6%). Our novel classification system illustrates that unifocal SDCs rarely occur in AHT, and that more complex SDC patterns are common. In nearly all cases (94.6%), additional signs of recently caused brain injury were present beside the SDCs. Comparison between confession and non-confession groups did not reveal any significant differences, indicating that the diagnostic criteria of AHT are robust. CONCLUSIONS:Although precise dating of SDCs based on initial neuroimaging alone remains unrealistic, the exact diagnosis of the SDC entity provide an important basis for differentiation between acute trauma and chronic post-traumatic state. Therefore, especially the confirmation or exclusion of subdural neomembranes, that define the cSDH, should be considered indispensable.
Abusive head trauma (AHT) and its most common variant, the shaken baby syndrome (SBS), are predominantly characterized by central nervous system-associated lesions. Relatively little data are available on the value of skeletal and skin injuries for the diagnosis of SBS or AHT. Thus, the present study retrospectively investigated 72 cases of living children diagnosed with the explicit diagnosis of SBS during medico-legal examinations at three German university institutes of legal medicine. The risk of circular reasoning was reduced by the presence of 15 cases with confession by perpetrators. Accordingly, the comparison with the 57 non-confession cases yielded no significant differences. Skeletal survey by conventional projection radiography, often incomplete, was found to be performed in 78% of the cases only. Fractures were found in 32% of the cases. The skull (43%) and ribs (48%) were affected most frequently; only 8% of the cases showed classic metaphyseal lesions. In 48% of the cases, healing fractures were present. Skin lesions (hematomas and abrasions) were found in 53% of the cases with the face (76%), scalp (26%), and trunk (50%) being the major sites. In 48% of the cases, healing skin lesions were observed. Nearly 80% of the cases with fractures also showed skin lesions. The data prove that SBS is frequently accompanied by other forms of physical abuse. Therefore, skeletal survey is indispensable and should always be done completely and according to existing imaging guidelines if child abuse is suspected.
Die Klassifikation der korrekten Todesart ist von weichenstellender Bedeutung bei der Untersuchung von Todesfällen. Es wird von einem letal verlaufenden Schütteltrauma berichtet, welches aufgrund nichtergriffener Kinderschutzmaßnahmen und einer falsch bescheinigten, natürlichen Todesart zunächst unentdeckt blieb. Erst bei erneutem Schütteln des jüngeren Bruders, welcher mit schweren neurologischen Symptomen ins Krankenhaus eingeliefert wurde, konnten die wahre Todesursache und -art des ersten Bruders festgestellt und Kinderschutzmaßnahmen ergriffen werden.
The shaken baby syndrome (SBS) is a common variant of abusive head trauma (AHT) in infants and toddlers. Data on the legal outcome of such cases are still sparse. By means of a retrospective multi-center analysis, 72 cases of living children diagnosed with SBS/AHT from three German university institutes of legal medicine were identified. Forty-six of these cases with 68 accused individuals were available and could be evaluated with regard to basic data on the course of the criminal proceedings as well as the profile of the defendants (sub-divided into suspects, convicts, and confessed perpetrators). Criminal proceedings predominantly commenced with a complaint by the treating hospital (62%) and were found to be closed (without judgment) in 50% of the cases, mostly due to a "lack of sufficient suspicion." Of the 23 cases with judgment, the court decided on acquittal in 4 cases (17%). Imprisonment was the most frequent sentence (16 out of 19 cases with conviction, 84%), whereby the sentence has been suspended on probation in 63% of the cases. Suspects and perpetrators were mostly male and derived from the close family environment of the injured children. All confessed perpetrators stated an "excessive demand" as the reason for the violent shaking of the child. The results of the present study are in line with data from other studies with other legal systems. As many criminal proceedings were closed and the 4 acquittals occurred because the perpetration could not be ascribed to a specific perpetrator, improving the forensic methods for such an unequivocal assignment would be desirable.
Fatal head trauma (FHT) represents one of the most frequent causes of death diagnosed in forensic pathology. However, profound statistic autopsy data on FHT is still sparse. Therefore, the purpose of this study was to investigate the circumstances and injury patterns of FHT with particular focus on age and sex, and additionally, to describe a recent risk profile of FHT. To this end, the forensic autopsy records of each FHT case at a large German university hospital during a 10-year period (2006–2015) were analyzed retrospectively (n = 372). The male-female ratio was 2.6:1. Regarding median age, females were 12.5 years older than males. Traffic-associated FHT represents the major mechanism of death, followed by fall-associated FHT. While accident was the major manner of death and presented a similar distribution of age and sex, homicides were the only subgroup with a significantly lower ratio between males and females. Skull fractures occurred in 78.2% and intracranial hemorrhages in 80.6% of all cases. In summary and partly in contrast to clinical data on head trauma, FHT still occurs predominantly in male individuals under the age of 45 years, in the context of traffic accidents and affected by alcohol intake. Improvements in traffic security as well as continuing surveillance of the incidence of FHT by forensic autopsies are necessary to further reduce the incidence of FHT.
In den letzten Jahren wurde wiederholt über eklatante Fehlleistungen bei der ärztlichen Leichenschau und beim Ausfüllen der Todesbescheinigung berichtet. Das Schädel-Hirn-Trauma (SHT) stellt eine nichtnatürliche Todesursache dar, deren Feststellung aufgrund von primär offensichtlichen, äußeren Verletzungen häufig schon im Rahmen der ersten ärztlichen Leichenschau zu erwarten wäre. Die vorliegende Studie untersucht die Qualität der ärztlichen Leichenschau bei todesursächlichem SHT anhand des Vergleichs von Todesbescheinigung und Obduktionsergebnis an einem rechtsmedizinischen Kollektiv eines Zehnjahreszeitraums. Im Rahmen einer retrospektiven Analyse aller 3611 Obduktionsfälle des Instituts für Rechtsmedizin in Münster der Jahre 2006–2015 wurden 328 Fälle mit einem todesursächlichen SHT identifiziert, bei denen die Todesbescheinigung bereits vor der Obduktion ausgefüllt war. Anschließend erfolgte in diesen Fällen hinsichtlich der angegebenen Todesursache ein Vergleich zwischen Todesbescheinigung und Obduktionsbericht. Der Grad der Übereinstimmung wurde in Kategorien (I bis VI) eingeteilt. Das todesursächliche SHT wurde in 58,5 % der Fälle korrekt erkannt (Kategorie VI). In 1,5 % der Fälle wurde eine gänzlich andere Todesursache als das SHT bei der primären äußeren Leichenschau festgestellt (Kategorie I). In 19,2 % der Fälle wurde überhaupt keine Todesursache oder die Angabe „unklar“ in die Todesbescheinigung eingetragen (Kategorien II und III). Unter allen diskrepanten Fällen (Kategorien I bis V) waren Sturzereignisse signifikant häufiger als bei den nichtdiskrepanten Fällen. Besondere Aufmerksamkeit während der ersten Leichenschau ist bei bestimmten Fallkonstellationen, wie bei Brandleichen, stark fäulnisveränderten Leichen oder Sturzgeschehen, geboten.
Background Hypertrophic cardiomyopathy (HCM) is a genetic cardiomyopathy with a prevalence of about 1:200. It is characterized by left ventricular hypertrophy, diastolic dysfunction and interstitial fibrosis; HCM might lead to sudden cardiac death (SCD) especially in the young. Due to low autopsy frequencies of sudden unexplained deaths (SUD) the true prevalence of SCD and especially of HCM among SUD remains unclear. Even in cases of proven SCD genetic testing is not a routine procedure precluding appropriate risk stratification and counseling of relatives. Methods Here we report a case of SCD in a 19-year-old investigated by combined forensic and molecular autopsy. Results During autopsy of the index-patient HCM was detected. As no other possible cause of death could be uncovered by forensic autopsy the event was classified as SCD. Molecular autopsy identified two (probably) pathogenic genetic variants in FHL1 and MYBPC3. The MYBPC3 variant had an incomplete penetrance. The FHL1 variant was a de novo mutation. We detected reduced FHL1 mRNA levels and no FHL1 protein in muscle samples suggesting nonsense-mediated mRNA decay and/or degradation of the truncated protein in the SCD victim revealing a plausible disease mechanism. Conclusion The identification of the genetic cause of the SCD contributed to the rational counseling of the relatives and risk assessment within the family. Furthermore our study revealed evidences for the pathomechanism of FHL1 mutations.
Life-threatening physical abuse of infants and toddlers is frequently correlated with head injuries. A common variant of the abusive head trauma is the shaken baby syndrome. The present review article sheds light on subdural collections in children with abusive head trauma and aims at providing a recent knowledge base for various medical disciplines involved in diagnostic procedures and legal proceedings. To this end, the different subdural collection entities are presented and illustrated. The pathophysiologic background is explained. Differential and age-diagnostic aspects are discussed and summarized by tabular and graphic overviews. Two problematic constellations frequently occurring during initial CT investigations are evaluated: A mixed-density subdural collection does not prove repeated trauma, and hypodense subdural collections are not synonymous with chronicity. The neuroradiologic analysis and assessment of subdural collections may decisively contribute to answering differential diagnostic and forensic questions. In addition to more reference data, a harmonization of terminology and methodology is urgently needed, especially with respect to age-diagnostic aspects.
Für die klinische Diagnose des Schütteltrauma-Syndroms („shaken baby syndrome“, SBS) bedarf es eines interdisziplinären Ansatzes. Radiologische Untersuchungen spielen dabei eine große Rolle, sowohl für die Klinik als auch für die rechtsmedizinische Begutachtung. Bildgebende Verfahren von Zentralnervensystem (ZNS) und Skelettsystem stehen im Vordergrund. Die vorliegende Übersichtsarbeit stellt die aktuellen Richtlinien vor und beleuchtet das breite Spektrum an Befunden, die im Rahmen radiologischer Untersuchungen von SBS-Fällen vorgefunden werden können. Auch neuere Entwicklungen werden berücksichtigt. Abschließend werden die häufig diskutierten atraumatischen Differenzialdiagnosen dargestellt und deren forensische Implikationen erörtert.
In diesem Beitrag berichten wir über 2 Jugendliche, bei denen sich zahlreiche, horizontal verlaufende, schmalstreifige, rote bzw. rot-violette Hautverfärbungen im Bereich der Thorakolumbalregion zeigten. Bei bestehendem Misshandlungsverdacht wurde eine rechtsmedizinische Begutachtung initiiert. Hierbei wurde festgestellt, dass die Hautveränderungen dem typischen Bild von Dehnungsstreifen, sog. Striae distensae, entsprechen. Striae distensae treten nicht nur in der Schwangerschaft und bei Übergewicht auf, sondern zählen zu den häufigen Hauterkrankungen bei Jugendlichen, an die differenzialdiagnostisch bei der Beurteilung von streifigen Hautveränderungen gedacht werden muss.
Are subdural hygromas the result of abusive head trauma? CT and MR imaging represent important tools for the diagnosis of abusive head trauma in living infants. In addition, in-depth understanding of the pathogenesis of subdural hygromas is increasingly required by neuroradiologists, pediatricians, and forensic physicians. Therefore, the current knowledge on subdural hygromas is summarized and forensic conclusions are drawn. The most important diagnostic pitfalls, benign enlargement of the subarachnoid space, and chronic subdural hematoma, are discussed in detail. Illustrative cases from forensic practice are presented. Literature analysis indicates that subdural hygromas can occur immediately or be delayed. If other infrequent reasons can be excluded, the presence of subdural hygromas strongly suggests a posttraumatic state and should prompt the physician to search for other signs of abuse. To differentiate subdural hygromas from other pathologies, additional MR imaging of the infant's head is indispensable after initial CT scan.