Leandro Tavares Lucato

Chorea is a rare manifestation of Wilson's disease (WD), resulting from copper-induced dysfunction of the basal ganglia. We herein report the case of a 22-year-old woman with progressive dysarthria and generalized chorea, later confirmed as WD. After 1 year of penicillamine therapy, she showed marked clinical improvement, with only residual chorea in the right upper limb. A 7-Tesla (7-T) magnetic resonance imaging (MRI) scan revealed predominant involvement of the left basal ganglia and corticospinal tract, including the hyperintense globus pallidus rim sign. This case highlights chorea as a potential initial manifestation of WD and reinforces its reversibility with the appropriate treatment.

Purpose: Neuroradiological findings associated with neurological presentations in acute SARS-CoV-2 infection are very heterogeneous. We aimed to develop a standardized framework for describing MR neuroimaging patterns in Covid-19, to test this in an international multicentre study and to determine the prevalence of observed MRI patterns and their association with clinical presentation and outcome. Methods: An international expert consortium developed a framework for assessment of brain MRI patterns in Covid-19 based on published literature and professional experience. We performed a retrospective analysis of the proposed framework, involving brain MRI scans from 458 Covid-19 patients with neurological symptoms, including data from 1 February to 31 May 2020. Two readers at 25 centres across five countries assessed the local MRI studies regarding the presence of one or more predefined MRI patterns. Imaging and clinical data were analysed using Bayesian statistics. Results: Of 458 patients, 58.5% had an abnormal MRI. Overall, 94% of all imaging pathologies seen were captured by our proposed classification. Ischemic strokes were the most frequent pattern overall (25.6%), followed by microhaemorrhages (15.9%). Ischemic infarct patterns were more frequent in non-ICU patients, while the haemorrhagic patterns were more frequent in ICU patients. White matter lesions (10.9%) were more frequent than grey matter lesions (8.1%), and leptomeningeal contrast enhancement was present in 8.3% of patients. Patient outcome was not associated with any MRI patterns. Conclusion: Our proposed classification of specific MRI patterns in Covid-19, covered 94% of observed abnormalities, while patient outcome, death or home discharge, was not associated with any MRI patterns.

The aim of this study is to report a rare case of an optic-chiasmatic cavernoma, an uncommon intracranial vascular malformation that accounts for less than 1% of all cavernoma cases. We present the case of a 43-year-old female patient with progressive visual loss in the left eye, associated with frontotemporal headache, diagnosed through magnetic resonance imaging (MRI). MRI revealed an expansive lesion involving the left optic chiasm and hypothalamus, with signs of recent hemorrhage and mass effect. The patient also presented with a left infraputaminal parenchymal hematoma and subarachnoid hemorrhage. She underwent immediate surgical treatment, and histopathological analysis confirmed the diagnosis of cavernoma. MRI showed typical features of cavernous malformation, including lobulated heterogeneous lesions with mixed hypo- and hyperintense signals on T1- and T2-weighted sequences, associated with hemoglobin degradation products. The patient experienced total vision loss in the left eye and partial loss in the right eye. MRI proved essential for early diagnosis and effective treatment of the condition. This case highlights the critical role of MRI in diagnosis and the potential for surgical intervention to improve patient outcomes.

Pathogenic variants in presenilin 1 (PSEN1) are related to early-onset Alzheimer disease (AD) and may occur as de novo variants. In comparison with sporadic forms, it can present with psychiatric manifestations, seizures, myoclonus, and focal presentation. Because PSEN1 can occur in young patients who lack a family history of neurologic disorders and because these symptoms are also frequent in autoimmune encephalitis (AE), diagnosis may be overlooked. Our aim was to demonstrate the challenge in diagnosing young patients with neurodegenerative diseases that simulate AE. We describe a case of a young patient with insidious progressive dementia, myoclonus, seizures, and aphasia, with no family history of dementia, along with signs suggestive of neuroinflammation on brain MRI and CSF examination. She was initially misdiagnosed as having AE. Further investigation was performed, leading to the discovery of a novel and de novo pathogenic variant in PSEN1. This case demonstrates the importance of considering PSEN1 in young patients with insidious progressive dementia with atypical clinical and neuroimaging features, even in patients without a family history of neurologic disorders. Not adhering to published criteria of possible and probable AE and overinterpretation of subtle inflammatory findings in CSF and MRI contribute to misdiagnosis.

A 39-year-old man presented with headache, left hemiparesis, and apathy. He also had epilepsy and hoarseness since infancy, tongue frenulum thickening, and yellow papular lesions around his eyelids and fingers ([Figure 1]). The computed tomography (CT) scan showed right frontal lobe hemorrhage, with “comma” shaped calcifications in both amygdalae, a characteristic finding of the Urbach-Wiethe disease ([Figure 2]). Previously, he presented with an intracranial pyogenic abscess due to poor dentition, perhaps related to hyaline deposits found along the parotid duct in these patients.[1] The whole exome sequencing shows a biallelic pathogenic variant c.816_817del (p.Cys272*) in the ECM1 ([Figure 2]). Urbach-Wiethe disease is an autosomal recessive disorder, with hyaline-like material deposition in the skin, mucosae, and viscera.[2] [3] Neurological features include seizures, neuropsychiatric manifestations, intracranial hemorrhages, and calcifications in the mesial temporal lobes.[4] Ayrton Roberto Massaro. Antonio José da Rocha. ALCCH: conceptualization, visualization, writing – original draft, writing – review & editing. GSAT: conceptualization, visualization, writing – review & editing. TTS: conceptualization, writing – original draft. LFF, JPMT: validation, writing – review & editing. GT: supervision, validation, writing – review & editing. FF: conceptualization, visualization, supervision, writing – review & editing. and LTT: conceptualization, supervision, writing – review & editing. Received: 24 May 2024 Accepted: 09 June 2024 Article published online: 02 September 2024 © 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/) Thieme Revinter Publicações Ltda. Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil