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Introduction: Adult genetic leukoencephalopathies are rare neurological disorders that present unique diagnostic challenges due to their clinical and radiological overlap with more common white matter diseases, notably multiple sclerosis (MS). In this context, a strong collaborative multidisciplinary network is beneficial for shortening the diagnostic odyssey of these patients and preventing misdiagnosis. The White Matter Rounds (WM Rounds) are multidisciplinary international online meetings attended by more than 30 physicians and scientists from 15 participating sites that gather every month to discuss patients with atypical white matter disorders. We aim to present the experience of the WM Rounds Network and demonstrate the value of collaborative multidisciplinary international case discussion meetings in differentiating and preventing misdiagnoses between genetic white matter diseases and atypical MS., Methods: We retrospectively reviewed the demographic, clinical and radiological data of all the subjects presented at the WM Rounds since their creation in 2013., Results: Seventy-four patients (mean age 44.3) have been referred and discussed at the WM Rounds since 2013. Twenty-five (33.8%) of these patients were referred by an MS specialist for having an atypical presentation of MS, while in most of the remaining cases, the referring physician was a geneticist (23; 31.1%). Based on the WM Rounds recommendations, a definite diagnosis was made in 36/69 (52.2%) patients for which information was available for retrospective review. Of these diagnosed patients, 20 (55.6%) had a genetic disease, 8 (22.2%) had MS, 3 (8.3%) had both MS and a genetic disorder and 5 (13.9%) had other non-genetic conditions. Interestingly, among the patients initially referred by an MS specialist, 7/25 were definitively diagnosed with MS, 5/25 had a genetic condition (e.g., X-linked adrenoleukodystrophy and hereditary small vessel diseases like Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) and COL4A1 -related disorder), and one had both MS and a genetic demyelinating neuropathy. Thanks to the WM Rounds collaborative efforts, the subjects who currently remain without a definite diagnosis, despite extensive investigations performed in the clinical setting, have been recruited in research studies aimed at identifying novel forms of genetic MS mimickers., Conclusions: The experience of the WM Rounds Network demonstrates the benefit of collective discussions on complex cases to increase the diagnostic rate and decrease misdiagnosis in patients with rare or atypical white matter diseases. Networks of this nature allow physicians and scientists to compare and share information on challenging cases from across the world, provide a basis for future multicenter research studies, and serve as model for other rare diseases., (Copyright © 2022 Huang, Giacomini, Massie, Venkateswaran, Trudelle, Fadda, Sharifian-Dorche, Boudjani, Poliquin-Lasnier, Airas, Saveriano, Ziller, Miller, Martinez-Rios, Wilson, Davila, Rush, Longbrake, Longoni, Macaron, Bernard, Tampieri, Antel, Brais and La Piana.)

Background: Many blood blister aneurysms (BBAs) have been documented with a rapid progression history in repeated angiography. The underlying mechanism and clinical significance remained elusive. This current study aims to clarify the clinical and histopathological differences between short-term progressive BBA and non-progressive BBAs., Methods and Materials: Eighty-one patients with BBAs were consecutively included for this single-center retrospective analysis. Clinical and radiological data on these patients were retrieved from 2017 to 2019. BBAs were defined as either progressive or non-progressive based on observed growth based on repeated imaging. Histopathological examinations of a saccular aneurysm, a progressive BBA, and a non-progressive BBA were conducted using representative aneurysm samples., Results: Among all enrolled patients, 26 of the them were identified with progressive BBAs, while the other 55 with non-progressive BBAs. Progressive BBAs were diagnosed significantly earlier in angiography (3.36 ± 0.61 vs. 6.53 ± 1.31 days, p < 0.05) and showed a higher presence rate of daughter sacs (61.5 vs. 38.2%, p < 0.05). Three different progression patterns were identified. BBAs that developed daughter sac enlargement are diagnosed significantly later than BBAs exhibiting other progression patterns. Patients with progressive and non-progressive BBAs exhibited similar overall clinical outcomes and incidence for complications. For patients with non-progressive BBAs, microsurgery appears to be inferior to endovascular treatment, while for patients with progressive BBAs, the short-term outcomes between microsurgery and endovascular treatment were identical. Histopathological analysis revealed that both subtypes shared a similar pseudoaneurysms structure, but non-progressive BBAs had more histologically destructed aneurysm wall with less remnant fibrillar collagen in adventitia., Conclusions: Progressive and non-progressive BBAs may not be distinct pathological lesions but represent different stages during the BBA development. Early intervention, regardless of treatment methods, is recommended for salvageable patients with progressive BBAs, but microsurgery should be performed with caution for non-progressive BBAs due to increased surgical risk.

Competing Interests: The authors declare that they have no relevant conflict of interest to report.

Purpose: The aim of the current study was to depict a comprehensive geographical picture of the existing literature on psychogenic nonepileptic seizures (PNES) and to highlight the needs for future works., Methods: We searched the electronic database PubMed on June 8, 2019 for articles that included any of the related key words to analyze all the relevant literature. We applied the advance search; field was adjusted to the title and dates were adjusted to 01/01/2000 until 06/08/2019. We selected the relevant articles. Location of the study was determined according to the affiliation(s) of the authors., Results: 1017 papers were included. Interest in research and publication on PNES has risen over the past two decades. Six hundred and nine full length research original papers and 199 review articles were published on PubMed from 2000 until 2019. Continent-wise, most articles were from North America and Europe (41.1% of the whole publications from Europe and 40.8% from North America; 833 papers totally), followed by Asia (92 papers), Oceania (36 papers) and South America (31 publications), while only 0.9% of the papers (9 papers) were from Africa., Conclusion: A global campaign is necessary to inform and educate the world on the issue of PNES and its significance. While PNES merit further epidemiological investigations, there is a significant disparity with regard to the location of the studies. There is a huge need to invest more on studies on various aspects of PNES in many places in the world, including African nations, India, and China., (Copyright © 2019 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)