Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID.

Subdural hemorrhages (SDHs) in children are most often observed in abusive head trauma (AHT), a distinct form of traumatic brain injury, but they may occur in other conditions as well, typically with clear signs and symptoms of an alternative diagnosis. We present a case of an infant whose SDH initially raised the question of AHT, but multidisciplinary evaluation identified multiple abnormalities, including rash, macrocephaly, growth failure, and elevated inflammatory markers, which were all atypical for trauma. These, along with significant cerebral atrophy, ventriculomegaly, and an absence of other injuries, raised concerns for a genetic disorder, prompting genetic consultation. Clinical trio exome sequencing identified a de novo likely pathogenic variant in NLRP3, which is associated with chronic infantile neurological, cutaneous, and articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID). He was successfully treated with interleukin-1 blockade, highlighting the importance of prompt treatment in CINCA/NOMID patients. This case also illustrates how atraumatic cases of SDH can be readily distinguished from AHT with multidisciplinary collaboration and careful consideration of the clinical history and exam findings.

Pediatric abusive head trauma: visual outcomes, evoked potentials, diffusion tensor imaging, and relationships to retinal hemorrhages.

PURPOSE: Function and anatomy of the visual system were evaluated in children with abusive head trauma (AHT). The relationships between retinal hemorrhages at presentation were examined with outcome measures. METHODS: Retrospective review of data in children with AHT for 1) visual acuity at last follow-up, 2) visual evoked potentials (VEP) after recovery, 3) diffusion metrics of white matter tracts and grey matter within the occipital lobe on diffusion tensor imaging (DTI), and 4) patterns of retinal hemorrhages at presentation. Visual acuity was converted into logarithm of minimum angle of resolution (logMAR) after correction for age. VEPs were also scored by objective signal-to-noise ratio (SNR). RESULTS: Of 202 AHT victims reviewed, 45 met inclusion criteria. Median logMAR was reduced to 0.8 (approximately 20/125 Snellen equivalent), with 27% having no measurable vision. Thirty-two percent of subjects had no detectable VEP signal. VEPs were significantly reduced in subjects initially presenting with traumatic retinoschisis or hemorrhages involving the macula (p < 0.01). DTI tract volumes were decreased in AHT subjects compared to controls (p < 0.001). DTI metrics were most affected in AHT victims showing macular abnormalities on follow-up ocular examination. However, DTI metrics were not correlated with visual acuity or VEPS. There was large inter-subject variability within each grouping. DISCUSSION: Mechanisms causing traumatic retinoschisis, or traumatic abnormalities of the macula, are associated with significant long-term visual pathway dysfunction. AHT associated abnormalities of the macula, and visual cortical pathways were more fully captured by VEPs than visual acuity or DTI metrics.

Symptomatic Cervical Spinal Cord Injury Without Accompanying Intracranial Injury Because of Child Abuse.

ABSTRACT: Although spinal ligamentous injuries and extra-axial hemorrhages are known to commonly accompany abusive head trauma (AHT), symptomatic and radiological apparent cervical spinal cord injuries are rare. Of the 16 previously reported cases, 3 such cord injuries lacked the accompanying intracranial injuries of AHT. We report an additional child who developed symptomatic central cervical cord syndrome, with accompanying cervical imaging findings, but no intracranial AHT injuries. The mechanism of trauma for this child and the other children without intracranial injury remains unclear. However, 1 additional reported child sustained similar injuries when she was held by her head and shaken. It is likely that as cervical magnetic resonance imaging becomes more common in AHT, more cases will be recognized.

Accidental and Abusive Mandible Fractures in Infants and Toddlers.

OBJECTIVE: Mandible fractures are uncommon injuries in infants and young children and may raise concern for nonaccidental trauma. Our study describes several children with mandible fractures to identify features that might differentiate abuse from accident. METHODS: Records and imaging were reviewed for children aged 24 months and younger who were diagnosed with mandible fractures at 2 tertiary pediatric care centers. Twenty-one cases were included, 8 of whom had formal child abuse consultations. Cases were reviewed for mechanisms of injury, physical examination findings, and occult injuries identified, as well as the final abuse determination. RESULTS: Among children with child abuse consultations, 5 injuries (62.5%) were determined to be accidental, 1 (12.5%) was abusive, and 2 were indeterminate for abuse or accident (25%). In each accidentally injured child, the reported mechanism of injury was a short fall with evidence of facial impact. No accidentally injured child had unexpected occult injuries or noncraniofacial cutaneous injuries. CONCLUSIONS: Infants and young children can sometimes sustain mandible fractures accidentally after well-described short falls with evidence of facial impact. Abuse remains in the differential diagnosis, and children should be evaluated accordingly. We propose that accidental injury be considered when a well-evaluated child with an isolated mandible fracture has a history of a short fall.

Short Falls in Childhood Occasionally Cause Major Brain Injuries Because of Unusual Circumstances.

METHODS: Records and imaging were reviewed for children younger than 6 years, hospitalized between 2015 and 2020 for major closed head injuries following less than 4-ft falls. Major injury was defined as intensive care admission more than 2 days, neurosurgical intervention, death, or disability at hospital discharge. Subjects were identified through Seattle and Spokane, Washington abuse consultations. Harborview Medical Center's trauma registry and Seattle Children's Hospital's Hemophilia Treatment Program and Radiology were searched for subjects. RESULTS: We identified 12 young children who sustained major closed head injury due to short falls. Seven developed major space-occupying epidural hemorrhages. One child developed internal hydrocephalus after intraventricular hemorrhage. One child with prior meningomyelocele, Chiari 2 malformation, and ventriculoperitoneal shunt developed shunt decompensation after an acute-on-chronic subdural hemorrhage. One child developed an internal capsule stroke because of a previously undiagnosed calcifying angiopathy. Another child developed space-occupying subdural hemorrhage associated with previously unrecognized platelet pool disorder. Only this child had abuse concerns, which were resolved with his coagulopathy diagnosis. One child had a diastatic skull fracture leading to pseudomeningocele.At Harborview Medical Center, 140 children were seen for short falls in the emergency department or inpatient service. Among the 40 needing intensive care, 4 (12.5%) had major injuries after short falls. Our hemophilia treatment program did not see any children who had sustained major injury following a short fall in a 5½ year period. CONCLUSIONS: Although young children rarely sustain major head injury following short falls, serious head injuries do occasionally occur because of unusual injury mechanisms or preexisting conditions. It is important to fully evaluate these patients to differentiate these unintentional falls from abusive head injury.

Are Complex Skull Fractures Indicative of Either Child Abuse or Major Trauma in the Era of 3-Dimensional Computed Tomography Imaging?

OBJECTIVE: The aim of the study was to determine whether complex skull fractures are more indicative of child abuse or major trauma than simple skull fractures. DESIGN: This is a retrospective chart and imaging review of children diagnosed with a skull fracture. Subjects were from 2 pediatric tertiary care centers. Children younger than 4 years who underwent a head computed tomography with 3-dimensional rendering were included. We reviewed the medical records and imaging for type of skull fracture, abuse findings, and reported mechanism of injury. A complex skull fracture was defined as multiple fractures of a single skull bone, fractures of more than 1 skull bone, a nonlinear fracture, or diastasis of greater than 3 mm. Abuse versus accident was determined at the time of the initial evaluation with child abuse physician team confirmation. RESULTS: From 2011 to 2012, 287 subjects were identified by International Classification of Diseases, Ninth Revision, code. The 147 subjects with a cranial vault fracture and available 3-dimensional computed tomography composed this study's subjects. The average age was 12.3 months. Seventy four (50.3%) had complex and 73 (49.7%) had simple fractures. Abuse was determined in 6 subjects (4.1%), and a determination could not be made for 5 subjects. Adding abused children from 2013 to 2014 yielded 15 abused subjects. Twelve of the abused children (80%) had complex fractures; more than the 66 (48.5%) of 136 accidentally injured children (P = 0.001; relative risk = 1.65 [1.21-2.24]). However, among children with a complex fracture, the positive predictive value for abuse was only 7%. CONCLUSIONS: Complex skull fractures frequently occur from accidental injuries. This study suggests that the presence of complex skull fractures should not be used alone when making a determination of abuse.

Delays in care seeking for young children with accidental skull fractures are common.

AIM: We sought to determine the frequency and patterns of delayed medical care seeking for young children with skull fractures. METHODS: We identified accidental skull fractures <4 years old, 2011-2012. Child abuse paediatricians abstracted retrospective data and paediatric radiologists re-reviewed images. 'Delays' were defined as presentation at ≥6 h. 'Minor accidents' included falls <4 feet and low force trauma, while 'major accidents' included higher height falls and major force events. We studied the frequency and duration of care delays, the signs or symptoms leading to care, and the duration of delays after signs or symptoms developed. RESULTS: Two hundred and ten children had accidental skull fractures. Delays were less likely with major accidents (4.9%), than with minor accidents (25.8%) (RR = 0.32 [0.15-0.70]). Children came to care for scalp swelling (STS) (39%), the injury event (36.2%), altered consciousness (15.2%) and vomiting (10.5%). Delayed onset of STS (78.6%) caused most delayed care. Early STS was firm, (17.6%) versus delayed (5.0%), as opposed to soft or fluctuant. CONCLUSION: Delayed care seeking is common for minor, but not major accidental infant and toddler skull fractures. Most followed delayed onset of signs and symptoms. Delayed care seeking alone should not imply child abuse.

Riga-Fede Disease: A Case of Sublingual Trauma Not Associated With Abuse.

OBJECTIVES: The following case presents a pediatric patient with Riga-Fede disease (RFD), a rare disorder in children under 2 years of age characterized by sublingual ulceration of the tongue due to trauma from repeated rubbing against the primary teeth. Riga-Fede disease is well reported in dental literature but is relatively unknown to the general pediatric community. It can be confused with nonaccidental trauma (NAT) from forced feeding or other abusive trauma because it presents with injury of oral structures including the sublingual frenulum and often results in problems with growth. This case highlights the importance for physicians to recognize RFD as a source of isolated oral injury that is distinct from NAT. Although approximately 35 cases of RFD have been reported in the literature, this is the first case to describe the process of distinguishing this disease from child abuse. METHODS: We present a case of an 8-month-old female infant who presented with extensive injury of her ventral tongue from RFD who underwent a full workup for NAT. We review the literature for guidance on diagnosing RFD and discuss how to distinguish it from abuse. RESULTS: Infants with characteristic ulceration of the ventral tongue opposing new teeth and with no other medical, social, or developmental concerns do not need to undergo further workup. Clinical examination and thorough history are sufficient to make the diagnosis. CONCLUSIONS: Traumatic intraoral injury in nonmobile children is highly concerning for child abuse. However, RFD is a well described cause of sublingual ulceration in infants that is not associated with abuse.

Delayed Subaponeurotic Fluid Collections: A Benign Cause of Scalp Swelling in Infancy.

ABSTRACT: Delayed subaponeurotic fluid collections (DSFCs) are a recently described cause of idiopathic scalp swelling in young infants. Associated with traumatic birth and the use of vacuum-assisted devices or fetal scalp electrodes, DSFCs can be differentiated from similar causes of neonatal scalp swelling based on characteristic history and physical examination findings. In this article, we highlight 2 cases of young infants presenting to a pediatric emergency department with large, fluctuant scalp swellings, which were appropriately diagnosed as DSFCs; clinical data on an additional eight cases are presented in table format. In cases of isolated DSFCs in otherwise well-appearing infants, further laboratory work, imaging, subspecialty consultation, and child abuse investigation is not necessary. Recommendations for the diagnosis and management of DSFCs presented reflect the clinical experience of the authors in conjunction with a review of the available medical literature on this topic.

3 Cases of Inflicted Skull Crush Injuries in Infants.

ABSTRACT: We describe 3 infants with skull fractures that involved more than 1 skull bone. On further evaluation, 2 of the 3 infants had additional fractures at other sites of the body and the third infant had concerning bruising of the face. Although an accidental mechanism of injury was initially given as the history in each case, law enforcement investigations led all 3 fathers to confess to crushing their infants' skulls out of frustration. These crushes were caused by their arms or hands. Bilateral skull fractures or those involving more than 1 skull bone can be seen in falls as well as in crush injuries. A crush-like pattern of injury, in the absence of a clear and plausible accidental mechanism, should raise concerns for possible physical abuse especially in nonambulatory infants.

Atraumatic Spinal Epidural Hematoma as Initial Presentation of Hemophilia A in an Infant.

ABSTRACT: Hemophilia A is characterized by deficiency of factor VIII. We present a unique, illustrative case of an infant with a short history of neck pain and irritability without neurological deficits who was found to have a spinal epidural hematoma. The subsequent investigation for the etiology, including workup for nonaccidental trauma, led to a diagnosis of severe hemophilia A.

Multiple Abusive Fractures in an Infant With a Concurrent Parathyroid Hormone-Related Peptide-Secreting Renal Tumor: Abusive Fractures Accompanying a Parathyroid Hormone-Related Peptide-Secreting Tumor.

BACKGROUND: When evaluating an infant with unexplained fractures for child abuse, it is important to evaluate for possible causes of underlying bone fragility. CASE: A 7-month-old infant was found to have a parathyroid hormone (PTH)-related peptide-secreting mesoblastic nephroma. In spite of having an elevated serum calcium, depressed serum phosphate, and high levels of PTH-related peptide, he had no demineralization or other hyper parathyroid-related bone changes. Instead, he had multiple classic metaphyseal lesions, fractures of differing ages including a proximal clavicle fracture, and current and past bruising. No fractures typical of bone insufficiency were present. These findings are highly indicative of abuse in addition to his hormone-secreting tumor. CONCLUSIONS: In spite of this child's abuse findings, endogenous or tumor-related hyper PTH should be in the differential of underlying bone fragility. Children with disorders that could cause injury susceptibility can also be abused.

Fracture-Associated Bruising and Soft Tissue Swelling in Young Children With Skull Fractures: How Sensitive Are They to Fracture Presence?

OBJECTIVES: The aim of this study was to determine how reliable scalp bruising and soft tissue swelling/cephalohematomas (STS) are for underlying young child skull fractures. METHODS: This was a retrospective clinical and imaging review from 2011 to 2012 of children younger than 4 years with skull fractures from 2 tertiary care hospitals. Imaging was reread by 3 pediatric radiologists. Descriptive statistics were utilized. The retrospective review had institutional review board approval. RESULTS: We identified 218 subjects for review: 210 unintentional and 8 abusive. One hundred forty-three had available 3-dimensional computed tomography reconstructions: 136 unintentional and 7 abused. Two-thirds were younger than 1 year. Twelve subjects had visible scalp bruising, but 73% had clinically and 93% radiologically apparent fracture-associated STS. There was no difference in clinical STS with simple (79%) versus complex (68%) fractures. Nor was there difference in subjects with fractures from minor (77%) versus major (70%) trauma. Unintentionally injured infants did not differ from abused for detectable STS (74% vs 50%). Parietal and frontal bones most frequently sustained fractures and most consistently had associated STS. CONCLUSIONS: Clinically apparent STS is present in approximately three-fourths of children with skull fractures. It may not be important to consistently identify skull fractures in unintentionally injured children. Point-of-care ultrasound may be adequate. For abuse concerns, it is important to identify skull fractures as evidence of cranial impacts and intracranial hemorrhages. The most sensitive, widely available imaging technique, cranial computed tomography scan with 3-dimensional skull reconstruction, should be utilized. Scalp bruising is present in a minority of young children with skull fractures. Its absence does not exclude cranial impact injury.

Correction to: Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation.

The original article included a statement which is not fully accurate. This correction clarifies the original statement.

Binky Bites and Other Oronasal Pressure Injuries.

Initial examination and exploration of childhood injuries may not lead to an obvious explanation of abuse. Although abusive oronasal injuries have been described, ones including nasal destruction are rare. We describe 4 children abused using implements that ultimately were thought to have caused significant nasal tissue destruction. In 2 of the cases, a forced pacifier placement was implicated in causing pressure injuries. In the other 2 cases, gags were part of the children's injuries. All 4 children had other findings of abuse and neglect.

A Prospective Study of the Causes of Bruises in Premobile Infants.

OBJECTIVE: This study had 2 objectives. First, to determine the behavior of physicians evaluating premobile infants with bruises. Second, and most importantly, to learn whether infants with unexplained bruising who had been initially evaluated by primary care and emergency department (ED) physicians are as likely to have their bruises attributed to child abuse as those children evaluated by child abuse physicians. METHODS: Primary care, ED, and child abuse pediatricians (CAPs) in King County, Washington, San Mateo, Calif, Albuquerque, NM, La Crosse, Wis, and Torrance, Calif prospectively identified and studied infants younger than 6 months with less than 6 bruises, which were judged by the evaluating clinician to be explained or unexplained after their initial clinical examination. RESULTS: Between March 1, 2010, and March 1, 2017, 63 infants with initially explained and 46 infants with initially unexplained bruises were identified. Infants with unexplained bruises had complete coagulation and abuse evaluations less frequently if they were initially identified by primary care pediatricians or ED providers than by CAPs. After imaging, laboratory, and follow-up, 54.2% (26) of the infants with initially unexplained bruises, including 2 who had been initially diagnosed with accidental injuries, were diagnosed as abused. Three (6.2%) infants had accidental bruising, 6 (12.4%) abuse mimics, 1 (2.5%) self-injury, 1 (2.5%) medical injury, and 11 (22.9%) remained of unknown causation. None had causal coagulation disorders. A total of 65.4% of the 26 abused infants had occult injuries detected by their imaging and laboratory evaluations. Six (23.1%) abused infants were not diagnosed until after they sustained subsequent injuries. Three (11.5%) were recognized abused by police investigation alone. Thirty-eight percent of the abused, bruised infants had a single bruise. Clinicians' estimates of abuse likelihood based on their initial clinical evaluation were inaccurate. Primary care, ED, and child abuse physicians identified abused infants at similar rates. CONCLUSIONS: More than half of premobile infants with initially unexplained bruises were found to be abused. Abuse was as likely for infants identified by primary care and ED providers as for those identified by CAPs. Currently, physicians often do not obtain full abuse evaluations in premobile infants with unexplained bruising. Their initial clinical judgment about abuse likelihood was inadequate. Bruised infants often have clinically occult abusive injuries or will sustain subsequent serious abuse. Bruised infants should have full abuse evaluations and referral for Protective Services and police assessments.

Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation.

BACKGROUND: Limited documentation exists about how frequently radiologically visible rebleeding occurs with abusive subdural hemorrhages (SDH). Likewise, little is known about rebleeding predispositions and associated symptoms. OBJECTIVE: To describe the frequency of subdural rebleeding after abusive head trauma (AHT), its predispositions and clinical presentation. MATERIALS AND METHODS: We evaluated children with SDHs from AHT who were reimaged within a year of their initial hospitalization, retrospectively reviewing clinical details and imaging. We used the available CT and MR images. We then performed simple descriptive and comparative statistics. RESULTS: Fifty-four of 85 reimaged children (63.5%) with AHT-SDH rebled. No child had new trauma, radiologic evidence of new parenchymal injury or acute neurologic symptoms from rebleeding. From the initial presentation, macrocephaly was associated with subsequent rebleeding. Greater subdural depth, macrocephaly, ventriculomegaly and brain atrophy at follow-up were associated with rebleeding. No other radiologic findings at initial presentation or follow-up predicted rebleeding risk, although pre-existing brain atrophy at initial admission and initial chronic SDHs barely missed significance. Impact injuries, retinal hemorrhages and clinical indices of initial injury severity were not associated with rebleeding. All rebleeding occurred within chronic SDHs; no new bridging vein rupture was identified. The mean time until rebleeding was recognized was 12 weeks; no child had rebleeding after 49 weeks. CONCLUSION: Subdural rebleeding is common and occurs in children who have brain atrophy, ventriculomegaly, macrocephaly and deep SDHs at rebleed. It usually occurs in the early months post-injury. All children with rebleeds were neurologically asymptomatic and lacked histories or clinical or radiologic findings of new trauma. Bleeds did not occur outside of chronic SDHs. We estimate the maximum predicted frequency of non-traumatic SDH rebleeding accompanied by acute neurological symptoms in children with a prior abusive SDH is 3.5%.

Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.

PURPOSE: The broad use of single-nucleotide polymorphism microarrays has increased identification of unexpected consanguinity. Therefore, guidelines to address reporting of consanguinity have been published for clinical laboratories. Because no such guidelines for clinicians exist, we describe a case and present recommendations for clinicians to disclose unexpected consanguinity to families. METHODS: In a boy with multiple endocrine abnormalities and structural birth defects, single-nucleotide polymorphism array analysis revealed ~23% autosomal homozygosity suggestive of a first-degree parental relationship. We assembled an interdisciplinary health-care team, planned the most appropriate way to discuss results of the single-nucleotide polymorphism array with the adult mother, including the possibility of multiple autosomal recessive disorders in her child, and finally met with her as a team. RESULTS: From these discussions, we developed four major considerations for clinicians returning results of unexpected consanguinity, all guided by the child's best interests: (i) ethical and legal obligations for reporting possible abuse, (ii) preservation of the clinical relationship, (iii) attention to justice and psychosocial challenges, and (iv) utilization of the single-nucleotide polymorphism array results to guide further testing. CONCLUSION: As single-nucleotide polymorphism arrays become a common clinical diagnostic tool, clinicians can use this framework to return results of unexpected consanguinity to families in a supportive and productive manner.