Delta-storage pool disease as a mimic of abusive head trauma in a 7-month-old baby: A case report

Leeuw, Marc De; Beuls, Emile; Parizel, Paul M.; Jacobs, Werner

doi:10.1016/j.jflm.2013.03.021

Cited by 9 publications

(5 citation statements)

References 11 publications

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“…At the phenomenon level, a molecular lens is expected to improve our understanding of some of the most challenging and controversial deaths that have defied further elucidation using traditional methods. In addition to those mentioned above, other examples might include some cases of sudden and unexplained deaths in infants and children (SIDS/SUDI/SUDC) (13–16), sudden and unexplained deaths in epilepsy (SUDEP) (7, 17–19), triad cases in infants (20–23), as well as sudden death in individuals exhibiting features of excited delirium. This is not to indicate that a genetic anomaly is responsible for the signs and symptoms associated with excited delirium per se , but only that if an individual were to have an underlying genetic predisposition for an arrhythmia while in a state of great agitation, then this could help answer why some individuals die suddenly and unexpectedly when interacting with police.…”

Section: Discussionmentioning

confidence: 99%

The Promise of Molecular Autopsy in Forensic Pathology Practice

Cunningham¹

2017

Academic Forensic Pathology

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Molecular autopsy is changing the practice of forensic pathology. Under some circumstances, one must contemplate the involvement of genetic factors to help explain why someone has died unexpectedly. Such considerations most commonly occur when a young person dies by natural means. However, there are deaths that occur by nonnatural means that the forensic pathologist will be asked to investigate, which could involve natural disease that has a significant genetic underpinning. Elucidation of genetic mutations may not only further an understanding of the pathophysiology at hand, but also speak to underlying susceptibilities in an individual who dies that may not have been recognized. In addition, one may occasionally identify pathological findings that are confused for trauma that may actually be better explained by an underlying disease process. Using molecular medicine as a tool to explore such possibilities can improve the quality of death investigations and provide a new lens to probe challenging and contentious forensic cases that have proved resistant to traditional methods.

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Section: Discussionmentioning

confidence: 99%

The Promise of Molecular Autopsy in Forensic Pathology Practice

Cunningham¹

2017

Academic Forensic Pathology

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“…No patient had a history or clinical evidence of retinal vasculopathy including retinopathy of prematurity (ROP), familial exudative vitreoretinopathy, Coats' disease, pathologic myopia, among others, [22][23][24][25][26][27] and aside from their traumatic injuries, no patient had prior medical problems, birth trauma, or bleeding diathesis. 16,17 Cases 1 to 4 were born full term, and case 5 was born premature at 33 weeks but did not have a history of ROP.…”

Section: Discussionmentioning

confidence: 99%

“…15 Additionally, retinal hemorrhages are not specific to AHT, and birth trauma or bleeding diathesis may produce similar-appearing retinal hemorrhages. 16,17 The purpose of this study was to describe fluorescein angiography (FA) findings in pediatric patients with a history of definite AHT and demonstrate the potential utility of FA in evaluating cases of suspected abuse with late presentation.…”

Section: Introductionmentioning

confidence: 99%

The Use of Fluorescein Angiography to Evaluate Pediatric Abusive Head Trauma: An Observational Case Series

Tran

Read

et al. 2017

Journal of VitreoRetinal Diseases

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Background or Purpose: The evaluation of retinal hemorrhages in the setting of suspected abusive head trauma (AHT) has important medical, social, and legal implications. Challenges include late presentation after retinal hemorrhages have resolved and differentiating AHT-related retinal changes from mimicking pathologies. To date, angiographic evidence of peripheral retinal injury in AHT has been reported in small series, but further study is needed to determine the prevalence and long-term sequelae of these findings. The purpose of this study was to describe fluorescein angiography (FA) findings in pediatric patients with a history of definite AHT and demonstrate the potential utility of FA in evaluating cases of suspected abuse with late presentation. Methods: Retrospective case series of 10 eyes in 5 pediatric patients with a history of definite AHT. RetCam fundus photography images and digital FA were performed. Results: Peripheral retinal nonperfusion affected 10 of 10 eyes in patients with a history of definite AHT. These changes persisted after acute retinal hemorrhages had resolved. Conclusions: "Retinal surveys" using FA provide angiographic evidence of peripheral retinal nonperfusion that may be a sign of AHT. This series adds to the growing body of cases reporting similar AHT-related findings and additionally demonstrates the longevity of these pathologic changes after trauma, which has not been previously described. Fluorescein angiography may offer a distinct advantage in evaluating cases of suspected abuse with late presentation to medical care when pathognomonic retinal hemorrhages may no longer be present. Further study is needed to determine the prevalence and long-term sequelae of these findings.

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“…There are case reports in the literature describing infantile retinal hemorrhages in the setting of coagulopathy. 6,7 Agrawal and colleagues 8 investigated the prevalence of retinal hemorrhages in critically ill children, noting retinal hemorrhages in 15.1% of 159 patients. The majority were described as mild or moderate in severity, although 6 patients had severe multilayered hemorrhages.…”

Section: Discussionmentioning

confidence: 99%

Diffuse bilateral retinal hemorrhages in an infant with a coagulopathy and prolonged cardiopulmonary resuscitation

Levinson

Pasquale

Lambert

2016

Journal of American Association for Pediatric Ophthalmology and

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We report a case of diffuse bilateral retinal and optic nerve sheath hemorrhages in an 8-week-old boy who was found unresponsive. The child underwent prolonged cardiopulmonary resuscitation and was found on admission to have a coagulopathy. An autopsy determined the cause of death to be a myocardial infarct in the distribution of an anomalous coronary artery. This case demonstrates the difficulty that may occur in establishing whether child abuse caused death in the setting of another potential cause of mortality.

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Delta-storage pool disease as a mimic of abusive head trauma in a 7-month-old baby: A case report

Cited by 9 publications

References 11 publications

The Promise of Molecular Autopsy in Forensic Pathology Practice

The Promise of Molecular Autopsy in Forensic Pathology Practice

The Use of Fluorescein Angiography to Evaluate Pediatric Abusive Head Trauma: An Observational Case Series

Diffuse bilateral retinal hemorrhages in an infant with a coagulopathy and prolonged cardiopulmonary resuscitation

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