Is Rolandic epilepsy associated with abnormal findings on cranial MRI?

Rolandic epilepsy (RE) is designated an idiopathic epilepsy syndrome, and hence no lesional abnormalities are expected on MRI exam. Recent reports suggest that MRI abnormalities are not only common, but may be specific for temporal lobe epilepsy, and lateralized to the side of EEG discharges. However, no controlled study has been performed to test the hypothesis of association between MRI abnormalities and Rolandic epilepsy. We performed an unmatched case-control study to test the hypothesis of association between MRI abnormalities and Rolandic epilepsy, using 25 typical RE cases and 25 children with migraine. Two independent examiners rated the MRIs for abnormalities. Examiners were blinded to the study hypothesis and identity of case and control exams. Fifty-two percent of RE exams contained at least one abnormality: peri/hippocampal abnormality (1 case), non-localized congenital malformation (7 cases), subcortical parenchymal hyperintensities (2 cases), periventricular parenchymal hyperintensities (1 case), dilated perivascular spaces (6 cases). There was no difference between the number or type of abnormalities in cases and controls. No type of abnormality lateralized to the hemisphere from which the EEG spikes emanated. The odds ratio of association between MRI abnormalities and RE was 0.87, 95% CI: 0.18–4.33 after adjusting for potential demographic and technical factors. We conclude that routine cranial MRI abnormalities are common in RE, but no more common than in controls, and not specific for RE

EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission

The integrity of the kidney filtration barrier essentially relies on the balanced interplay of podocytes and the glomerular basement membrane (GBM). Here, we show by analysis of in vitro and in vivo models that a loss of the podocyte-specific FERM-domain protein EPB41L5 results in impaired extracellular matrix (ECM) assembly. By using quantitative proteomics analysis of the secretome and matrisome, we demonstrate a shift in ECM composition characterized by diminished deposition of core GBM components, such as LAMA5. Integrin adhesome proteomics reveals that EPB41L5 recruits PDLIM5 and ACTN4 to integrin adhesion complexes (IACs). Consecutively, EPB41L5 knockout podocytes show insufficient maturation of integrin adhesion sites, which translates into impaired force transmission and ECM assembly. These observations build the framework for a model in which EPB41L5 functions as a cell-type-specific regulator of the podocyte adhesome and controls a localized adaptive module in order to prevent podocyte detachment and thereby ensures GBM integrity

Surgical management of non-dysraphic cervical intramedullary lipoma: A report of two cases

Background: Intradural spinal lipomas without an associated dysraphism, represent a fraction of an already-rare entity. These lesions often present with progressive neurologic deficits. The underlying pathophysiology of these lesions is poorly understood as are the underlying factors that predispose these masses to grow. Case description: We present two cases: an 11-year-old female and a 56-year-old female, each with a cervical spinal intramedullary lipoma presenting with slowly worsening neurological deficits. Each of these lesions were microsurgically debulked and underwent a duraplasty with an Alloderm® patch (Allergan) with rapidly improving symptoms postoperatively. Conclusions: Subpial lipomas, without associated spinal dysraphism, are a rare entity, and both its pathogenesis and the techniques used in management remain uncertain. In our patients, resection of the lipoma with exposure of the lipoma spinal cord interface was performed to a variable degree, while respecting the transiting nerve roots and spinal cord anatomy, with immediate postoperative improvement in function. This reaffirms the benefit of mass reduction and supports a limited decompression. Even the use of a duraplasty to decompress the spinal cord and restore the spinal CSF circulation can greatly impact the postoperative course. Our patients support the relationship between hormonal flux, weight gain, and the onset of symptoms

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

OBJECTIVE: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+)/H(+) Exchanger 6 (NHE6). We aimed to determine the diagnostic criteria and mutational spectrum for CS. METHODS: Twelve independent pedigrees (14 boys, ages 4 to 19) with mutations in NHE6 were administered standardized research assessments and mutations were characterized. RESULTS: The mutational spectrum was composed of 9 single nucleotide variants (SNVs), 2 indels and 1 CNV deletion. All mutations were protein-truncating or splicing mutations. We identified two recurrent mutations (c.1498 c>t, p.R500X; and c.1710 g>a, p.W570X). Otherwise, all mutations were unique. In our study, seven of 12 mutations (58%) were de novo, in contrast to prior literature wherein mutations were largely inherited. We also report prominent neurological, medical and behavioral symptoms. All CS participants were non-verbal and had intellectual disability, epilepsy and ataxia. Many had prior diagnoses of autism and/or Angelman syndrome. Other neurologic symptoms included eye movement abnormalities (79%), postnatal microcephaly (92%) and MRI evidence of cerebellar atrophy (33%). Regression was noted in 50%, with recurrent presentations involving loss of words and/or the ability to walk. Medical symptoms, particularly gastrointestinal symptoms, were common. Height and body mass index measures were below normal ranges in most participants. Behavioral symptoms included hyperkinetic behavior (100%) and a majority exhibited high pain threshold. INTERPRETATION: This is the largest cohort of independent CS pedigrees reported. We propose diagnostic criteria for CS. CS represents a novel neurogenetic disorder with general relevance to autism, intellectual disability, Angelman syndrome, epilepsy and regression

ACR guidance document on MR safe practices: Updates and critical information 2019

The need for a guidance document on MR safe practices arose from a growing awareness of the MR environment's potential risks and adverse event reports involving patients, equipment, and personnel. Initially published in 2002, the American College of Radiology White Paper on MR Safety established de facto industry standards for safe and responsible practices in clinical and research MR environments. The most recent version addresses new sources of risk of adverse events, increases awareness of dynamic MR environments, and recommends that those responsible for MR medical director safety undergo annual MR safety training. With regular updates to these guidelines, the latest MR safety concerns can be accounted for to ensure a safer MR environment where dangers are minimized. Level of Evidence: 1 Technical Efficacy Stage: 5 J. Magn. Reson. Imaging 2020;51:331-338