Graff, Arne H.

All children experiencing child maltreatment/neglect require child abuse experts to offer the complex care needed, and for the child with potential life-limiting injuries, both child abuse and palliative care experts are integral to the team. The current literature describes the involvement of child abuse pediatrics after patients are already engaged with pediatric palliative care (PPC). Here we describe a case of an infant who suffered injuries after nonaccidental trauma (NAT) and the subsequent role of PPC. In the case described, PPC was consulted in the context of a grave neurological prognosis after NAT. The mother retained full decision-making rights, and she wanted to protect her daughter from a life dependent on others and medical technology. Our team supported the mother in the face of multiple layers of loss—her daughter, her relationship with the perpetrator, her home, and the threat of job loss due to time away.

AbstractBackgroundRecognizable skin findings of child physical abuse include bruises, abrasions, lacerations, bite marks, burns, and oral injuries. Self‐induced skin picking, or neurotic excoriation, can correspond to emotional stress, underlying psychiatric illness, or substance abuse. Parental neurotic excoriation injury of children has not been reported previously as a form of physical abuse.MethodsWe present a case series of five children abused via parental excoriation. All affected children were three years of age or younger and otherwise healthy. Each child presented with wounds determined to be consistent with chronic picking. Patient age, injury location, and in some cases, witness accounts confirmed the lesions were not self‐inflicted.ResultsIn three cases, caregivers reported methamphetamine use. In these cases, caregivers repeatedly picked or wiped the infants’ skin. In two cases, the caregiver demonstrated personal neurotic excoriation behavior, which was imposed upon her children resulting in similar lesions. One affected child died at 14 days of age from abusive head trauma, while the other four children were placed in foster care by Child Protective Services.ConclusionExcoriation injury places children at risk for significant scarring and other long‐term effects. We report examples demonstrating that repetitive skin injury by caregivers is a diagnostic consideration for abuse in young children.

AbstractIntroductionNonaccidental 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 PresentationWe 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).ConclusionSince 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.