Search

Introduction Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the consideration of possible medical causes including coagulation, hematologic, metabolic and other genetic disorders, as well as witnessed and unwitnessed accidental injuries. Case Presentation We present a 7‐month‐old male with spells and incidental findings of bilateral subdural hematomas, retinal hemorrhages, and secondary macrocephaly, leading to investigation for NAT. Biochemical analysis showed excretion of a large amount of D‐2‐hydroxyglutaric in urine consistent with a biochemical diagnosis of D‐2‐hydroxyglutaric aciduria, a rare neurometabolic disorder characterized by developmental delay, epilepsy, hypotonia, and psychomotor retardation. None of these symptoms were present in our patient at the time of diagnosis. Molecular genetic testing revealed a pathogenic splice site variant (c.685‐2A>G) and a variant of uncertain significance (c.1256G>T) with evidence of pathogenicity in the D2HGDH gene, consistent with a molecular diagnosis of D‐2‐hydroxyglutaric aciduria type I (OMIM #600721). Conclusion Since several metabolic disorders, including D‐2‐hydroxyglutaric aciduria type I, can present solely with symptoms suggestive of NAT (subdural and retinal hemorrhages), an early metabolic evaluation by urine organic acid analysis should be included in clinical protocols evaluating NAT. A methodical and nonjudgmental approach coordinated between pediatricians and metabolic specialists is also necessary to ensure that rare genetic conditions are not overlooked to prevent devastating social, legal, and financial consequences of suspected child abuse.

Background The differential diagnosis of non-accidental injury during childhood includes medical conditions that predispose to skeletal fragility. Ehlers-Danlos syndrome (EDS) has been proposed as one such condition despite little objective evidence in the medical literature. Objective To investigate if EDS causes increased bone fragility during infancy and childhood. Participants and setting Residents of an 8-county region in southern Minnesota using the Rochester Epidemiology Project (REP) medical records-linkage system. Methods This retrospective, population-based, case-control study identified subjects with EDS from 1976 to 2015 who had complete records for at least their first year of life. Validity of diagnosis was ascertained using the 2017 International Classification of the Ehlers-Danlos Syndromes. Records were reviewed for fracture diagnoses that were characterized by age, location, type and mechanism. Results Of 219 potential cases, 21 had complete records for the first year of life and sufficient evidence in the medical record to support an EDS diagnosis. Of these 21, there were 14 hypermobile, 2 classical, 4 vascular, and 1 arthrochalasia EDS subtypes. 11 of 21 EDS cases (52.4%) and 15 of 63 controls (23.8%) had one or more fractures during childhood. No fractures were identified in the first year of life. Comparing cases to controls, EDS was associated with having any fractures during childhood with an odds ratio of 3.4 (95% CI: 1.20–9.66). Conclusions We found no evidence that infants with common forms of EDS are predisposed to more frequent fractures. Ambulatory subjects with these EDS subtypes may have a higher incidence of fractures during childhood.

Background: Children who are victims of sex or labor trafficking may seek medical care in Emergency Departments (EDs). We sought to determine barriers and facilitators to recognition by ED providers of such children when they present for emergency care. Methods This was a cross-sectional study. A voluntary, online, anonymous survey was sent to Emergency Department providers at academic institutions in Portland OR (CARES Northwest), St. Louis, MO (Washington University School of Medicine), Rochester MN (Mayo Clinic), Atlanta GA (Emory School of Medicine) and New Haven CT (Yale School …

Cervical ganglia and nerve root injury with resultant paralysis of the phrenic nerve is proposed as a mechanism of injury in “shaken baby syndrome” or nonaccidental head injury of children. We report autopsy findings of a 22-month-old girl in which cervical ganglia and nerve hemorrhage was present along with the triad of encephalopathy, bilateral retinal hemorrhage, and bilateral subdural, intradural, and subarachnoid hemorrhages. Clear evidence of near immediate respiratory arrest was documented from first responder medical reports, juvenile witness statements, and perpetrator confession. The narrowing of time of injury from the anatomic findings at autopsy allowed investigative efforts to focus on a single individual and cleared several other adults with access to the child. Additional technical notes based on our experience are provided for users of cervical neck dissection. Hemorrhage in the tissues surrounding the vertebral artery raises a potential additional injury site in cases of neck injury.

Theidentification of a skeletal injury may be the first indication of abuse. Estimates of the frequency of fractures in abused children vary from approximately 10% to 50% depending on the population studied, the type of diagnostic imaging used to detect fractures, and the age of the patients seen (Ebbin, Gollub, Stein, & Wilson, 1969; Herndon, 1983; Leventhal, Thomas, Rosenfield, & Markowitz, 1993). Recently, large population-based studies have been used to estimate the incidence of inflicted skeletal trauma. While the majority of fractures are still attributed to falls, child abuse accounts for 12% of fractures in children less than 36 months of age (Leventhal, 2008).