Search Results (10)

When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is fundamental, including a thorough personal and familial history, along with accurate physical examination and additional investigations. Especially when the clinical picture is uncertain, it is important to remember that certain genetic conditions can cause bleeding inside the brain, which may resemble NAHI. Pediatric strokes occurring around the time of birth can also be an initial sign of undiagnosed genetic disorders. Hence, it is crucial to conduct a thorough evaluation, including genetic testing, when there is a suspicion of NAHI but the symptoms are unclear. In these cases, a characteristic set of symptoms is often observed. This study aims to summarize some of the genetic causes of hemorrhagic stroke in the pediatric population, thus mimicking non-accidental head injury, considering elements that can be useful in characterizing pathologies. A systematic review of genetic disorders that may cause ICH in children was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We selected 10 articles regarding the main genetic diseases in stroke; we additionally selected 11 papers concerning patients with pediatric stroke and genetic diseases, or studies outlining the characteristics of stroke in these patients. The disorders we identified were Moyamoya disease (MMD), COL4A1, COL4A2 pathogenic variant, Ehlers–Danlos syndrome (E-D), neurofibromatosis type 1 (Nf1), sickle cell disease (SCD), cerebral cavernous malformations (CCM), hereditary hemorrhagic telangiectasia (HHT) and Marfan syndrome. In conclusion, this paper provides a comprehensive overview of the genetic disorders that could be tested in children when there is a suspicion of NAHI but an unclear picture. Full article

Abusive head trauma (AHT) is an extreme form of physical child abuse, a subset of which is shaken baby syndrome (SBS). While traumatic injury in children is most readily observed as marks of contusion on the body, AHT/SBS may result in internal injuries that can put the life of the child in danger. One pivotal sign associated with AHT/SBS that cannot be spotted with the naked eye is retinal injury (RI), an early sign of which is retinal hemorrhage (RH) in cases with rupture of the retinal vasculature. If not addressed, RI can lead to irreversible outcomes, such as visual loss. It is widely assumed that the major cause of RI is acceleration–deceleration forces that are repeatedly imposed on the patient during abusive shaking. Still, due to the controversial nature of this type of injury, few investigations have ever sought to delve into its biomechanical and/or biochemical features using realistic models. As such, our knowledge regarding AHT-/SBS-induced RI is significantly lacking. In this mini-review, we aim to provide an up-to-date account of the traumatology of AHT-/SBS-induced RI, as well as its biomechanical and biochemical features, while focusing on some of the experimental models that have been developed in recent years for studying retinal hemorrhage in the context of AHT/SBS. Full article

Abusive head trauma (AHT) represents a very serious global public health problem. Prevention of these episodes is essential to reduce the morbidity and mortality of this phenomenon. All healthcare professionals should be able to recognize the signs of abuse. However, diagnosis is very complex as the signs are often blurred and cannot be recognized with certainty without carrying out adequate instrumental investigations. It has been calculated that approximately one-third of AHT cases remain undetected and require more than one medical visit to be correctly interpreted and diagnosed. On the other hand, the literature has recently also emphasized the problems related to possible false diagnoses of abuse and the numerous family and personal repercussions that follow from this issue. For these reasons, correct and timely recognition is essential to avoid the risk of recurrence of AHT and to start proper forensic investigations, in order to identify the offender or exonerate a suspect. The present work explores the most recent evidence of recent years in the field of AHT diagnostics through a literature review. The purpose of this article is to provide forensic pathologists with clear tools for diagnosis based on the literature. To this end, the review suggests clinical and forensic protocols aimed at the timely diagnosis of AHT in order to prevent abuse from remaining undetected. Full article

(1) Background: Head trauma represents the first cause of death in abused children, but diagnostic knowledge is still limited. The characteristic findings of abusive head trauma (AHT) are retinal hemorrhages (RH) and additional ocular findings, including optic nerve hemorrhages (ONH). However, etiological diagnosis must be cautious. (2) Methods: The Preferred Reporting Items for Systematic Review (PRISMA) standards were employed, and the research focus was the current gold standard in the diagnosis and timing of abusive RH. (3) Results: Sixteen articles were included for qualitative synthesis. The importance of an early instrumental ophthalmological assessment emerged in subjects with a high suspicion of AHT, with attention to the localization, laterality, and morphology of the findings. Sometimes it is possible to observe the fundus even in deceased subjects, but the current techniques of choice consist of Magnetic Resonance Imaging and Computed Tomography, also useful for the timing of the lesion, the autopsy, and the histological investigation, especially if performed with the use of immunohistochemical reactants against erythrocytes, leukocytes, and ischemic nerve cells. (4) Conclusions: The present review has made it possible to build an operational framework for the diagnosis and timing of cases of abusive retinal damage, but further research in the field is needed. Full article

Abusive head trauma (AHT) is a serious traumatic brain injury and the leading cause of death in children younger than 2 years. The development of experimental animal models to simulate clinical AHT cases is challenging. Several animal models have been designed to mimic the pathophysiological and behavioral changes in pediatric AHT, ranging from lissencephalic rodents to gyrencephalic piglets, lambs, and non-human primates. These models can provide helpful information for AHT, but many studies utilizing them lack consistent and rigorous characterization of brain changes and have low reproducibility of the inflicted trauma. Clinical translatability of animal models is also limited due to significant structural differences between developing infant human brains and the brains of animals, and an insufficient ability to mimic the effects of long-term degenerative diseases and to model how secondary injuries impact the development of the brain in children. Nevertheless, animal models can provide clues on biochemical effectors that mediate secondary brain injury after AHT including neuroinflammation, excitotoxicity, reactive oxygen toxicity, axonal damage, and neuronal death. They also allow for investigation of the interdependency of injured neurons and analysis of the cell types involved in neuronal degeneration and malfunction. This review first focuses on the clinical challenges in diagnosing AHT and describes various biomarkers in clinical AHT cases. Then typical preclinical biomarkers such as microglia and astrocytes, reactive oxygen species, and activated N-methyl-D-aspartate receptors in AHT are described, and the value and limitations of animal models in preclinical drug discovery for AHT are discussed. Full article

Young children with severe traumatic brain injury (TBI) have frequently been excluded from studies due to age and/or mechanism of injury. Magnetic resonance imaging (MRI) is now frequently being utilized to detect parenchymal injuries and early cerebral edema. We sought to assess MRI findings in infants with severe TBI, and to determine the association between specific MRI findings and mechanisms of injury, including abusive head trauma (AHT). MRI scans performed within the first 30 days after injury were collected and coded according to NIH/NINDS Common Data Elements (CDEs) for Neuroimaging in subjects age < 2 years old with severe TBI enrolled in the Approaches and Decisions in Acute Pediatric Traumatic Brain Injury Trial. Demographics and injury characteristics were analyzed. A total of 81 children were included from ADAPT sites with MRI scans. Median age was 0.77 years and 57% were male. Most common MRI finding was ischemia, present in 57/81 subjects (70%), in a median of 7 brain regions per subject. Contusion 46/81 (57%) and diffuse axonal injury (DAI) 36/81 (44.4%) subjects followed. Children were dichotomized based on likelihood of AHT with 43/81 subjects classified as AHT. Ischemia was found to be significantly associated with AHT (p = 0.001) and “inflicted” injury mechanism (p = 0.0003). In conclusion, the most common intracerebral injury seen on MRI of infants with severe TBI was ischemia, followed by contusion and DAI. Ischemia was associated with AHT, and ischemia affecting > 4 brain regions was predictive of AHT. Full article

The term “shaken baby syndrome” has been replaced by “abusive head trauma (AHT)” based on the mechanism of injury. The reported mortality rate of AHT ranges from 10% to 30%. Up to two-thirds of survivors suffer from serious long-term disabilities. Thus, an expeditious and accurate diagnosis is crucial to prevent further abuse that might result in death or serious disabilities. It remains a challenge for physicians to diagnose AHT when parents do not give a history of trauma in preverbal infants without any external signs. Here, we report a case of a 14-day-old boy who presented with a febrile convulsion without evident external injuries nor history of trauma according to his parents. He was diagnosed with AHT based on MRI findings of subacute subdural hemorrhage, multiple cortical hemorrhages, cerebral edema, and diffuse axonal injury. In conclusion, health care providers should keep in mind that the history of trauma provided by the parents or caregivers might not always be true and that reasonable suspicion of abuse is the most important in the diagnosis of AHT, although neuroimaging plays a pivotal role. Reasonable suspicion of AHT in combination with a thorough physical examination, neuroimaging, and skilled neuroradiologist can improve diagnosis and help victims in a timely manner. Full article

Abusive head trauma (AHT) represents a commonly misdiagnosed condition. In fact, there is no pathognomonic sign that allows the diagnosis in children. Therefore, it is such an important medico-legal challenge to evaluate reliable diagnostic tools. The aim of this review is to evaluate the current scientific evidence to assess what the best practice is in order to diagnose AHT. We have focused particularly on evaluating the importance of circumstantial evidence, clinical history, the use of postmortem radiological examinations (such as CT and MRI), and the performance of the autopsy. After autopsy, histological examination of the eye and brain play an important role, with attention paid to correlation with symptoms found in vivo. Full article

In the context of child abuse spectrum, abusive head trauma (AHT) represents the leading cause of fatal head injuries in children less than 2 years of age. Immature brain is characterized by high water content, partially myelinated neurons, and prominent subarachnoid space, thus being susceptible of devastating damage as consequence of acceleration–deceleration and rotational forces developed by violent shaking mechanism. Diagnosis of AHT is not straightforward and represents a medical, forensic, and social challenge, based on a multidisciplinary approach. Beside a detailed anamnesis, neuroimaging is essential to identify signs suggestive of AHT, often in absence of external detectable lesions. Magnetic resonance imaging (MRI) represents the radiation-free modality of choice to investigate the most typical findings in AHT, such as subdural hematoma, retinal hemorrhage, and hypoxic-ischemic damage and it also allows to detect more subtle signs as parenchymal lacerations, cranio-cervical junction, and spinal injuries. This paper is intended to review the main MRI findings of AHT in the central nervous system of infants, with a specific focus on both hemorrhagic and non-hemorrhagic injuries caused by the pathological mechanisms of shaking. Furthermore, this review provides a brief overview about the most appropriate and feasible MRI protocol to help neuroradiologists identifying AHT in clinical practice. Full article

This study investigated characteristics and trends of hospitalized abuse-related traumatic brain injuries (TBI) treated at a large pediatric medical center in Wuhan, China during the past 10 years. De-identified hospital discharge data for patients 0–4 years old hospitalized at the Wuhan Medical Care Center for Women and Children were analyzed, and ICD-10 codes were used to identify cases of TBI. Medical notes provided by doctors in the medical record were used to identify TBI cases in which suspected child abuse was the cause. From 2002 to 2011, 3,061 pediatric TBI patients were hospitalized and 4.6% (140) of these cases were suspected child abuse-related. The majority of suspected child abuse cases involved children younger than 1 year of age (68.6%) and usually affected males (63.6%). Children with non-Abusive Head Trauma (AHT) were more likely to have full recovery outcome (68.4%, 95% CI: 66.6%–70.0%) than children with suspected AHT (44.3%, 95% CI: 36.1%–52.5%). The proportion of all childhood TBI attributable to abuse did not appear to have increased in the 10-year period at this medical center. This is the first comprehensive study highlighting the important role of suspected child abuse in causing TBIs among Chinese children. Child abuse as a major cause of TBIs among infants in China should be studied further, and there should be greater awareness of this important social and medical problem in China. Full article