This article provides protocols for the imaging of children who present with suspected stroke.

Solitary cysticercosis of muscles and soft tissue is a rare disease and can cause a diagnostic dilemma clinically. We present the MRI and ultrasound findings in six patients with solitary muscular and soft tissue cysticercosis. Five of them had clear cysts that displayed low signal intensity on T1-weighted images and high signal intensity on T2-weighted images. Four of these cysts had scolices within them. One patient had an ill-defined hyperintense lesion on T2-weighted images without any clear cyst. Ultrasound performed in all patients showed similar findings, with the scolices being more clearly appreciated. MRI and ultrasound are useful in the diagnosis of solitary muscular and soft tissue cysticercosis and they reliably establish the diagnosis when a clear cyst with scolex is seen.

BACKGROUND AND PURPOSE: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder affecting children and young adults. Stroke-like episodes are often associated with acute cortical lesions in the posterior cerebral cortex and are classically described as asymmetric and transient. In this study we assessed the anatomic distribution of acute cortical lesions, the incidence of symmetry, and the temporal evolution of lesions. MATERIALS AND METHODS:This was a retrospective cohort study of patients who had a confirmed genetic diagnosis of a pathogenic variant associated with MELAS and MR imaging performed at our center (2006)(2007)(2008)(2009)(2010)(2011)(2012)(2013)(2014)(2015)(2016)(2017)(2018). Each MR imaging study was assessed for new lesions using T1, T2, FLAIR, DWI, ADC, and SWI. The anatomic location, symmetry, and temporal evolution of lesions were analyzed.RESULTS: Eight patients with the same pathogenic variant of MELAS (MT-TL1 m.3243A.G) with 31 MR imaging studies were included. Forty-one new lesions were identified in 17 of the studies (5 deep, 36 cortical). Cortical lesions most commonly affected the primary visual cortex, the middle-third of the primary somatosensory cortex, and the primary auditory cortex. Thirty of 36 cortical lesions had acute cortical diffusion restriction, of which 21 developed cortical laminar necrosis on subacute imaging. Six of 11 studies with multiple lesions showed symmetric cortical involvement.

The PRUNE1 gene encodes a member of the phosphoesterases (DHH) protein superfamily that is highly expressed in the human fetal brain and involved in the regulation of cell migration. Homozygous or compound heterozygous PRUNE1 mutations were recently identified in five individuals with brain malformations from four families. We present a case of a 2-year-old male with a complex neurological phenotype and abnormalities on brain MRI. Re-annotation of clinical whole-exome sequencing data revealed a homozygous likely pathogenic variant in PRUNE1 (c.521-2A>G). These results further delineate a new PRUNE1-related syndrome, and highlight the importance of periodic data re-annotation in individuals who remain without a diagnosis after undergoing genome-wide testing. © 2017 Wiley Periodicals, Inc.