Approximately 10 000 children experience in-hospital or out-of-hospital cardiac arrest annually in the US.^1,2 Children with return of spontaneous circulation (ROSC) are at high risk of neurological morbidity and death due to global hypoxic-ischemic brain injury.³ Accurate early understanding of the risk of neurological injury could support clinician and family decision-making and treatment. However, a standardized validated approach is lacking.⁴

A 14 year old girl on multidrug treatment for borderline tuberculoid leprosy presented with a swelling in her left arm and soon thereafter developed ulnar claw hand. MRI showed a well-defined ovoid lesion arising from the left ulnar nerve, isointense to muscle on T1W images and hyperintense on T2W and STIR images. On post gadolinium T1W sequence the lesion showed peripheral rim enhancement with central necrosis suggestive of abscess. The ulnar nerve proximal and distal to the lesion was thickened and showed mild contrast enhancement. On aspiration the swelling yielded frank pus which was positive for acid-fast bacilli.

BACKGROUND AND PURPOSE: Pathogenic variants in the ACTA2 gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was to further characterize gyral abnormalities in patients with ACTA2 pathogenic variants as per the 2020 consensus recommendations for the definition and classification of malformations of cortical development. MATERIALS AND METHODS: We performed a retrospective, multicentric review of patients with proved ACTA2 pathogenic variants, searching for the presence of malformations of cortical development. A consensus read was performed for all patients, and the type and location of cortical malformation were noted in each. The presence of the typical ACTA2 arterial phenotype as well as demographic and relevant clinical data was obtained. RESULTS: We included 13 patients with ACTA2 pathogenic variants (Arg179His mutation, n = 11, and Arg179Cys mutation, n = 2). Ninety-two percent (12/13) of patients had peri-Sylvian dysgyria, 77% (10/13) had frontal dysgyria, and 15% (2/13) had generalized dysgyria. The peri-Sylvian location was involved in all patients with dysgyria (12/12). All patients with dysgyria had a characteristic arterial phenotype described in ACTA2 pathogenic variants. One patient did not have dysgyria or the characteristic arterial phenotype. CONCLUSIONS: Dysgyria is common in patients with ACTA2 pathogenic variants, with a peri-Sylvian and frontal predominance, and was seen in all our patients who also had the typical ACTA2 arterial phenotype.