Fatal systemic (paradoxical) air embolism diagnosed by postmortem funduscopy.

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.

Hemorrhagic Retinopathy and Optic Nerve Sheath Hemorrhage Associated With Fatal Subarachnoid Hemorrhage from a Ruptured Intracranial Aneurysm Due to Segmental Fibromuscular Dysplasia.

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.

Elevator-Related Deaths.

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.

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.

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.

Sudden Cardiac Arrest Due to Hemophagocytic Lymphohistiocytosis in a Child.

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.

Smartphone Image Acquisition During Postmortem Monocular Indirect Ophthalmoscopy.

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.

Retinal haemorrhages associated with fatal paediatric infections.

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.

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

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.

Are peripapillary intrascleral hemorrhages pathognomonic for abusive head trauma?

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 trauma--have 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.

Fatal acute intracranial injury, subdural hematoma, and retinal hemorrhages caused by stairway fall.

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.

Portopulmonary hypertension secondary to congenital extrahepatic portosystemic shunt with heterotaxy and polysplenia: a cause of sudden death in an infant.

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.

A simple model for teaching postmortem monocular indirect ophthalmoscopy.

Although the ophthalmoscope was invented by Hermann von Helmholtz in 1851, pathologists until recently have relied almost exclusively on ocular enucleation to identify and describe postmortem fundal abnormalities. An inexpensive but valuable tool for forensic pathologists, the postmortem monocular indirect ophthalmoscope consists of a light source attached to a headband along with a hand-held lens. This permits a wide view of the fundus after death but the technique can be challenging to master for pathology residents and forensic pathology fellows. To facilitate skill acquisition in monocular indirect ophthalmoscopy, a simple and inexpensive teaching model can be constructed from hinged, cylindrical plastic containers. An artificial pupil created in the lid and a removable color fundal image placed in the bottom of the opaque container allows the pathologist-in-training to practice the technique of monocular indirect ophthalmoscopy and correctly identify, localize, and describe fundal abnormalities such as retinal hemorrhages.

Post-mortem analysis for two prevalent beta-oxidation mutations in sudden infant death.

BACKGROUND: Fatty acid oxidation disorders may cause sudden and unexpected infant death and are associated with the histological hallmark of hepatic steatosis. The goal of the present study was to assess the value of post-mortem molecular analysis for medium-chain acyl-coenzyme A dehydrogenase (MCAD) and mitochondrial trifunctional protein (MTP) defects in unexplained sudden infant death (SID) associated with fatty infiltration of the liver. MCAD catalyzes the first step of medium-chain fatty acid oxidation while MTP catalyzes the last three steps of long-chain fatty acid oxidation. METHODS: In a retrospective study, 220 consecutive cases of sudden and unexplained infant death certified by medical examiners at Wake Forest University Medical Center were assessed for hepatic steatosis. Subjects with evidence of hepatic steatosis were screened for mutations in MCAD and MTPalpha-subunit using DNA isolated from paraffin-embedded liver tissue, single-strand conformation variance, and nucleotide sequence analyses. RESULTS: Sixteen cases (7.3%) were associated with diffuse micro-vesicular or mixed micro- and macro-vesicular hepatic steatosis. Two of these 16 cases (12.5%) had disease-causing mutations. One was homozygous for the prevalent MCAD A985G mutation. The second was a compound heterozygous for the prevalent MTP G1528C mutation and a novel 1 bp deletion in exon 18 of the MTPalpha-subunit gene. CONCLUSIONS: A significant proportion (7.3%) of SID is associated with hepatic steatosis. The present data support post-mortem molecular analysis for the MCAD A985G and MTP G1528C prevalent mutations in cases of sudden and unexplained infant death associated with hepatic steatosis.

Forced suffocation of infants with baby wipes: a previously undescribed form of child abuse.

BACKGROUND: Foreign body aspiration in children is commonly seen in emergency departments and carries a significant mortality. Abusive foreign body suffocation is not well described. METHODS: We present a case-series of four infants who presented with aspiration of a baby wipe. RESULTS: Each child was found to be a victim of child physical abuse with substantial morbidity and mortality associated with the aspiration of the wipe and associated injuries. CONCLUSIONS: We recommend that infants who present with a baby wipe aspiration should be considered as likely victims of child abuse and physicians should evaluate each infant for associated injuries of the oropharynx, skin, skeleton, and head.

Postmortem monocular indirect ophthalmoscopy.

Postmortem monocular indirect ophthalmoscopy permits examination of the posterior fundus and peripheral retina even if there is less than perfect anterior segment media such as postmortem corneal clouding. Light directed through the decedent's pupil from a bright focal light source illuminates the fundus and reflected light from the retina is then projected out of the eye. An aspheric condensing lens positioned in front of the eye focuses the retinal image at the focal plane of the lens. The real inverted, laterally reversed image comprises a wide field of view permitting evaluation of the decedent's fundus for retinal hemorrhages and other lesions.

Transfusion-related acute lung injury in an infant during craniofacial surgery.

UNLABELLED: Transfusion-related acute lung injury (TRALI) is a potentially life-threatening, systemic, immune-mediated reaction to transfused blood product. The symptoms may be masked under general anesthesia. In this case report, we describe an infant who developed TRALI under general anesthesia for craniofacial surgery. The difficulty with diagnosis, the pathophysiology, and the need for understanding and recognition to reduce morbidity and mortality are discussed. IMPLICATIONS: Transfusion-related acute lung injury (TRALI) is a life-threatening problem that can occur during blood product transfusion in patients of any age. Understanding the pathophysiology may help make an earlier diagnosis to reduce more serious adverse outcomes.