Intracranial hemorrhage in a patient with Urbach-Wiethe disease

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Abstract
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