Understanding Bilateral Skull Fractures in Infancy: A Retrospective Multicenter Case Review.

BACKGROUND: Bilateral skull fractures in infancy often raise suspicion for abuse. Nevertheless, literature suggests that they may occur accidentally. However, empiric data are lacking. OBJECTIVE: This multicenter retrospective review aimed to characterize bilateral skull fractures in a large sample. PARTICIPANTS AND SETTING: Medical records for infants younger than 24 months with bilateral skull fractures involving hospital consultation with a child abuse pediatrician (CAP) were reviewed from 2005 to 2020 at 13 nationally represented institutions. METHODS: Standardized data collection across institutions included historical features, fracture characteristics, and additional injuries, as well as the CAP's determination of accident versus abuse. Pooled data were analyzed for descriptive and bivariate analyses. RESULTS: For 235 cases, 141 were accidental, and 94 abuse. The majority occurred in young infants, and a history of a fall was common in 70% of cases. More than 80% involved both parietal bones. Bilateral simple linear fractures were more common in accidental cases, 79% versus 35%, whereas a complex fracture was more frequent in abuse cases, 55% versus 21% ( P < 0.001). Almost two thirds of accidental cases showed approximation of the fractures at the sagittal suture, compared with one third of abuse cases ( P < 0.001). Whereas focal intracranial hemorrhage was seen in 43% of all cases, diffuse intracranial hemorrhage was seen more in abuse cases (45%) than accidents (11%). Skin trauma was more common in abusive than accidental injury (67% vs 17%, P < 0.001), as were additional fractures on skeletal survey (49% vs 3%, P < 0.001). CONCLUSIONS: A fall history was common in bilateral skull fractures deemed accidental by a CAP. Most accidental cases involved young infants with biparietal simple linear fractures, without skin trauma or additional fractures. A skeletal survey may aid in the determination of accidental or abusive injury for unwitnessed events resulting in bilateral skull fractures in infants.

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.

OBJECTIVE: To expand the clinical phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder in 33 individuals. METHODS: Participants were diagnosed with pathogenic or likely pathogenic variants in HNRNPH2 using American College of Medical Genetics and Genomics/Association of Molecular Pathology criteria, largely identified via clinical exome sequencing. Genetic reports were reviewed. Clinical data were collected by retrospective chart review and caregiver report including standardized parent report measures. RESULTS: We expand our clinical characterization of HNRNPH2-related disorders to include 33 individuals, aged 2-38 years, both females and males, with 11 different de novo missense variants, most within the nuclear localization signal. The major features of the phenotype include developmental delay/intellectual disability, severe language impairment, motor problems, growth, and musculoskeletal disturbances. Minor features include dysmorphic features, epilepsy, neuropsychiatric diagnoses such as autism spectrum disorder, and cortical visual impairment. Although rare, we report early stroke and premature death with this condition. CONCLUSIONS: The spectrum of X-linked HNRNPH2-related disorders continues to expand as the allelic spectrum and identification of affected males increases.

Extracardiac imaging findings in COVID-19-associated multisystem inflammatory syndrome in children.

BACKGROUND: Coronavirus disease 2019 (COVID-19)-associated multisystem inflammatory syndrome in children (MIS-C) is an emerging syndrome that presents with a Kawasaki-like disease and multiorgan damage in children previously exposed to COVID-19. OBJECTIVE: To review the extracardiac radiologic findings of MIS-C in a group of children and young adults with a confirmed diagnosis of MIS-C. MATERIALS AND METHODS: In a retrospective study from April 1, 2020, to July 31, 2020, we reviewed the imaging studies of 47 children and adolescents diagnosed with MIS-C, 25 females (53%) and 22 males (47%), with an average age of 8.4 years (range 1.3-20 years). Forty-five had chest radiographs, 8 had abdominal radiographs, 13 had abdominal US or MRI, 2 had neck US, and 4 had brain MRI. RESULTS: Thirty-seven of 45 (82%) patients with chest radiographs had findings, with pulmonary opacities being the most common finding (n=27, 60%), most often bilateral and diffuse, followed by peribronchial thickening (n=26, 58%). Eight patients had normal chest radiographs. On abdominal imaging, small-volume ascites was the most common finding (n=7, 54%). Other findings included right lower quadrant bowel wall thickening (n=3, 23%), gallbladder wall thickening (n=3, 23%), and cervical (n=2) or abdominal (n=2) lymphadenopathy. Of the four patients with brain MRI, one had bilateral parieto-occipital abnormalities and another papilledema. CONCLUSION: The diagnosis of MIS-C and its distinction from other pathologies should be primarily based on clinical presentation and laboratory evidence of inflammation because imaging findings are nonspecific. However, it should be considered in the setting of bilateral diffuse pulmonary opacities, peribronchial thickening, right lower quadrant bowel inflammation or unexplained ascites in a child presenting with Kawasaki-like symptoms and a history of COVID-19 infection or recent COVID-19 exposure.