Air embolism is often unrecognized and underreported. Published case reports or case series describe only rare fundal examinations of retinal air emboli (RAE)—a distinctive sign of systemic air embolism. We report an infant, found unresponsive at home, who died in the emergency department after unsuccessful resuscitative efforts. Before the autopsy, diagnostic RAE were recognized and imaged during postmortem funduscopy. Postmortem radiography and an autopsy confirmed systemic (paradoxical) air embolism due to inflicted abdominal and thoracic blunt force injuries. While a few descriptions and illustrations of RAE occur in case reports, we found no published photographic images of RAE in infants, children, or adults. This case report describes and photographically documents classic RAE associated with fatal systemic (paradoxical) air embolism. Complementing postmortem radiography and judicious autopsy techniques, the detection of RAE can aid pathologists in diagnosing systemic air embolism.

Elevators are mechanical transportation devices used to move vertically between different levels of a building. When first developed, elevators lacked the safety features. When safety mechanisms were developed, elevators became a common feature of multistory buildings. Despite their well‐regarded safety record, elevators are not without the potential for danger of injury or death. Persons at‐risk for elevator‐related death include maintenance and construction workers, other employees, and those who are prone to risky behavior. Deaths may be related to asphyxia, blunt force, avulsion injuries, and various forms of environmental trauma. In this review, we report on 48 elevator‐related deaths that occurred in nine different medicolegal death investigation jurisdictions within the United States over an approximately 30‐year period. The data represents a cross‐section of the different types of elevator‐related deaths that may be encountered. The review also presents an overview of preventive strategies for the purpose of avoiding future elevator‐related fatalities.

Fibromuscular dysplasia is an idiopathic, nonatheromatous, and noninflammatory arterial disease that most commonly affects the renal and carotid arteries. We report a child with subarachnoid and ocular hemorrhage associated with an aneurysm due to fibromuscular dysplasia. Computed tomography following a witnessed collapse revealed diffuse subarachnoid hemorrhage and severe cerebral edema. An autopsy confirmed the radiographic findings and detected bilateral retinal hemorrhages, optic nerve sheath hemorrhages, and a ruptured saccular aneurysm due to focal fibromuscular dysplasia involving the intracranial right vertebral artery. This case documents a fatal subarachnoid hemorrhage in a child with an intracranial saccular aneurysm caused by fibromuscular dysplasia. The associated retinal hemorrhages are easily detected by postmortem monocular indirect ophthalmoscopy.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disease. Affected infants manifest with severe respiratory distress and refractory pulmonary hypertension and uniformly die in the first month of life. Heterozygous point mutations or copy-number variant deletions involving FOXF1 and/or its upstream lung-specific enhancer on 16q24.1 have been identified in the vast majority of ACDMPV patients. We have previously described two unrelated families with a de novo pathogenic frameshift variant c.691_698del (p.Ala231Argfs*61) in the exon 1 of FOXF1. Here, we present a third unrelated ACDMPV family with the same de novo variant and propose that a direct tandem repeat of eight consecutive nucleotides GCGGCGGC within the ~4 kb CpG island in FOXF1 exon 1 is a novel mutation hotspot causative for ACDMPV.

Background: Hemophagocytic lymphohistiocytosis(HLH) is an uncommon hyperinflammatory condition in children that may acutely mimic septic shock. Sudden out-of-hospital cardiac arrest in children is also uncommon and may be of unclear etiology upon initial presentation. Case Report: A 10-year-old previously healthy child presented with sudden cardiac arrest after an insidious course of throat pain, fever, and progressive altered mental status. He was subsequently diagnosed with Epstein-Barr virus-associated HLH and suffered cerebral edema and death. Why Should an Emergency Physician be Aware of This?: HLH has not previously been described as a cause of sudden out-of-hospital cardiac arrest in children. Rapid diagnosis of underlying cause of an unexpected cardiac arrest may help guide appropriate therapy to salvage organ function. (C) 2018 Elsevier Inc. All rights reserved.

The medical usefulness of smartphones continues to evolve as third-party applications exploit and expand on the smartphones' interface and capabilities. This technical report describes smartphone still-image capture techniques and video-sequence recording capabilities during postmortem monocular indirect ophthalmoscopy. Using these devices and techniques, practitioners can create photographic documentation of fundal findings, clinically and at autopsy, without the expense of a retinal camera. Smartphone image acquisition of fundal abnormalities can promote ophthalmological telemedicine--especially in regions or countries with limited resources--and facilitate prompt, accurate, and unbiased documentation of retinal hemorrhages in infants and young children.

Cardiopulmonary resuscitation (CPR) is an emergency intervention to maintain circulation and breathing in an unresponsive individual suffering from cardiopulmonary arrest. However, CPR is not without its own risks. Injuries secondary to compression and ventilation are well documented in the medical and scientific literature. Most of these injuries are minor, but some can result in significant morbidity and even death. It is important to identify those injuries that could be secondary to CPR versus inflicted traumatic injuries of child maltreatment.

For many physicians, retinal haemorrhages (RHs) in infants and young children remain highly diagnostic of non-accidental (abusive) head trauma. Because clinicians have applied indirect ophthalmoscopy selectively to cases of suspected child abuse, the association between RH and other conditions such as infection, coagulopathy and accidental trauma has encountered habitual bias, creating the potential for iatrogenic misdiagnosis of child abuse. We present an autopsy case series of four children, aged three years old or younger, in whom RHs were detected by post-mortem monocular indirect ophthalmoscopy after the patients had died from infections. We discuss the laterality, number, type and location of RHs in these cases, and summarize proposed mechanisms of RH formation in fatalities from paediatric infection. We demonstrate that many of the ophthalmological findings that have been considered diagnostic of abusive head trauma can also occur in association with infective processes.

The American Academy of Pediatrics Committee on Child Abuse and Neglect, Section on Ophthalmology, acknowledges that searching for retinal hemorrhages (RHs) in infants only in cases of suspected of abuse creates selection bias. However, they also recommend that postmortem eye removal might not be indicated in children who have clearly died from witnessed severe accidental head trauma or otherwise readily diagnosed systemic medical conditions. Although infrequently described in the child abuse literature, peripapillary intrascleral hemorrhages (bleeding in the sclera at the optic nerve insertion)putatively from severe repetitive acceleration/deceleration forces with or without blunt head traumahave been considered essentially pathognomonic for abusive head trauma (shaken baby syndrome). We present two neonates who sustained accidental, severe in utero head injuries and had associated extensive RHs and optic nerve sheath hemorrhages with peripapillary intrascleral hemorrhages detected at autopsy. Neither neonate had a documented clinical fundal examination in the intensive care unit.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.

We appreciate Dr. Greeley’s letter, which draws attention to the difficulties in evaluating a traumatic head injury in an infant and the methods of literature searches.... Language: en

Congenital extrahepatic portosystemic shunt (CEPS) is associated with polysplenia and heterotaxy and can cause portopulmonary hypertension. We report a 12-month-old girl who acutely died likely due to portopulmonary hypertension secondary to CEPS associated with heterotaxy and polysplenia. A retrospective radiographic review following her autopsy identified an anatomical explanation for the acute death in an infant.

We describe an infant with an acute subdural hematoma, a fatal head injury, and severe hemorrhagic retinopathy caused by a stairway fall. His cerebral and ocular findings are considered diagnostic of abusive head trauma by many authors. Our literature search of serious injuries or fatalities from stairway or low-height falls involving young children yielded 19 articles of primary data. These articles are discrepant, making the classification of a young child's death following a reported short fall problematic. This case report contradicts the prevalent belief of many physicians dealing with suspected child abuse that low-height falls by young children are without exception benign occurrences and cannot cause fatal intracranial injuries and severe retinal hemorrhages. The irreparable harm to a caregiver facing an erroneous allegation of child abuse requires physicians to thoroughly investigate and correctly classify pediatric accidental head injuries.

EDITOR: Author replyAmerican Journal of OphthalmologyVol. 134Issue 3Preview Full-Text PDF

Interpretation of postmortem injuries, including their differentiation from those produced antemortem, may be difficult even for experienced forensic pathologists. A variety of animals or insects residing in the death environment may alter the appearance of the deceased. Dictyoptera blattaria (the cockroach) is common in the residential setting. Three cases of sudden and unexpected infant death are presented in which postmortem injuries inflicted by cockroaches initially raised concern of nonaccidental injury. The true nature of the lesions was not recognized by the people at the death scene and, in one case, observation of neck injuries raised suspicion of possible strangulation. In another, the lesions were thought to be burns of different ages. Cockroaches are omnivorous scavengers that devour keratin. They will bite human flesh in both the living and dead with resultant injury. Recognition of cockroach bites will help in the evaluation of injuries discovered during child death investigations.