Sudden Unexpected Death in Epilepsy: A Report of Three Commonly Encountered Anatomic Findings in the Forensic Setting With Recommendations for Best Practices.

Sudden unexplained death in epilepsy (SUDEP) is the most common cause of death in children and young adults with epilepsy with epileptic patients harboring a 27 times increased risk of death from SUDEP. Structural brain lesions are encountered in up to 50% of autopsy cases. In this case series, we report 3 previously undiagnosed structural causes of SUDEP discovered at autopsy at our institution including schizencephaly, ganglioglioma, and focal cortical dysplasia.

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.

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.

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.

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.