Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.

OBJECTIVE: Cardio-facio-cutaneous syndrome (CFC) is a genetic disorder due to variants affecting genes coding key proteins of the Ras/MAPK signaling pathway. Among the different features of CFC, neurological involvement, including cerebral malformations and epilepsy, represents a common and clinically relevant aspect. Status epilepticus (SE) is a recurrent feature, especially in a specific subgroup of CFC patients with developmental and epileptic encephalopathy (DEE) and history of severe pharmacoresistant epilepsy. Here we dissect the features of SE in CFC patients with a particular focus on longitudinal magnetic resonance imaging (MRI) findings to identify clinical-radiological patterns and discuss the underlying physiopathology. METHODS: We retrospectively analyzed clinical, electroencephalogram (EEG), and MRI data collected in a single center from a cohort of 23 patients with CFC carrying pathogenic BRAF variants who experienced SE during a 5-year period. RESULTS: Seven episodes of SE were documented in 5 CFC patients who underwent EEG and MRI at baseline. MRI was performed during SE/within 72 hours from SE termination in 5/7 events. Acute/early post-ictal MRI findings showed heterogenous abnormalities: restricted diffusion in 2/7, focal area of pcASL perfusion change in 2/7, focal cortical T2/FLAIR hyperintensity in 2/7. Follow-up images were available for 4/7 SE. No acute changes were detected in 2/7 (MRI performed 4 days after SE termination). SIGNIFICANCE: Acute focal neuroimaging changes concomitant with ictal EEG focus were present in 5/7 episodes, though with different findings. The heterogeneous patterns suggest different contributing factors, possibly including the presence of focal cortical malformations and autoinflammation. When cytotoxic edema is revealed by MRI, it can be followed by permanent structural damage, as already observed in other genetic conditions. A better understanding of the physiopathology will provide access to targeted treatments allowing to prevent long-term adverse neurological outcome. PLAIN LANGUAGE SUMMARY: Cardio-facio-cutaneous syndrome is a genetic disorder that often causes prolonged seizures known as status epilepticus. This study has a focus on electroclinical and neuroimaging patterns in patients with cardio-facio-cutaneous syndrome. During these status epilepticus episodes, we found different abnormal brain imaging patterns in patients, indicating various causes like brain malformations and inflammation. Understanding these patterns could help doctors find specific treatments, protecting cardio-facio-cutaneous syndrome patients from long-term brain damage.

Cortical Thickness and Clinical Findings in Prescholar Children With Autism Spectrum Disorder.

The term autism spectrum disorder (ASD) includes a wide variability of clinical presentation, and this clinical heterogeneity seems to reflect a still unclear multifactorial etiopathogenesis, encompassing different genetic risk factors and susceptibility to environmental factors. Several studies and many theories recognize as mechanisms of autism a disruption of brain development and maturation time course, suggesting the existence of common neurobiological substrates, such as defective synaptic structure and aberrant brain connectivity. Magnetic resonance imaging (MRI) plays an important role in both assessment of region-specific structural changes and quantification of specific alterations in gray or white matter, which could lead to the identification of an MRI biomarker. In this study, we performed measurement of cortical thickness in a selected well-known group of preschool ASD subjects with the aim of finding correlation between cortical metrics and clinical scores to understand the underlying mechanism of symptoms and to support early clinical diagnosis. Our results confirm that recent brain MRI techniques combined with clinical data can provide some useful information in defining the cerebral regions involved in ASD although large sample studies with homogeneous analytical and multisite approaches are needed.

CT of the acute colonic diverticulitis: a pictorial essay.

Acute colonic diverticulitis (ACD) is an acute episode of severe and prolonged lower abdominal pain due to diverticular inflammation, usually associated with change in bowel movements, fever, and leukocytosis. Worldwide, computed tomography (CT) of the abdomen and pelvis with intravenous contrast is accepted as the best imaging method for evaluating the diverticular inflammation, serving the following functions: confirming the presence of ACD; evaluation of the disease severity and degree; therapy planning guide in presence of complications (such as abscess or intestinal perforation); diagnosis of other diseases that may simulate diverticular inflammation. In the literature, we found values of CT sensitivity for diverticular inflammation from 79% to 99%; CT is useful in differentiating other diseases, which may cause abdominal pain, when diverticular inflammation is not the cause, such as neoplasm, inflammatory bowel disease, appendix inflammations, epiploic appendix inflammation and colon ischemia. The trick to differentiate diverticulitis from other inflammatory diseases that involve the colon is the identification of diverticula in the pathological intestinal loop. In the last years, a radiological classification was created in order to guide the management of ACD in patients treated conservatively or with interventional procedures. The new classification system divides ACD into two groups: complicated and uncomplicated. Uncomplicated ACD is defined if only thickening of the intestinal wall is present, with increase of the perivisceral fat density. Complicated ACD is divided into 4 stages, depending on presence of microperforation without abscess and/or peritoneum involvement (stage 1 A), presence of abscess with diameter ≤4 cm (stage 1 B), presence of abscess with diameter >4 cm (stage 2 A), presence of distant air >5 cm from the pathological loop (stage 2 B), presence of diffuse fluid in at least two distant abdominal quadrants without distant free air (stage 3), presence of diffuse fluid and distant free air (stage 4). In this pictorial essay, we describe CT findings of the ACD and explain classification of the disease and its common and uncommon complications.