Intracranial hemorrhage in a patient with Urbach-Wiethe diseaseA 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
Signs related to Urbach-Wiethe disease: (A) Dry skin and hyperkeratotic plaques on the left hand. (B) Thickened tongue frenulum. (C) Early alopecia on the top of the scalp and decreased hair density. (D) Beaded papular lesions on the eyelids, resembling a pearl necklace, also known as moniliform blepharosis.
A noncontrast CT scan (A) demonstrates amygdalae comma-shaped calcifications (arrowheads) and hypoattenuation in left frontal lobe (arrow). A CT scan of the bone window (B) also shows calcifications (arrowheads). The coronal T2WI (C) depicts hypointense calcifications (arrowheads) and a lesion in left frontal lobe (arrow). Both DWI (D) and postcontrast T1WI (E) show central restricted diffusion and peripheral enhancement; no significant change in CBV color maps (F) is noted (arrows), suggesting an abscess. After 4 years the patient returned with an intraparenchymal hemorrhage in the right frontal lobe, seen in the noncontrast CT scan (G), SWI (H), and coronal T2WI (I) (arrows). Again, there are signs of calcification (arrowheads in I).
References
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1 Frenkel B, Vered M, Taicher S, Yarom N. Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases. Clin Oral Investig 2017;21(07):2245–2251. Doi: 10.1007/s00784-016-2017-7
» https://doi.org/10.1007/s00784-016-2017-7 -
2 Hamada T. Lipoid proteinosis. Clin Exp Dermatol 2002;27(08): 624–629. Doi: 10.1046/j.1365-2230.2002.01143.x
» https://doi.org/10.1046/j.1365-2230.2002.01143.x -
3 Mirancea N, Hausser I, Beck R, Metze D, Fusenig NE, Breitkreutz D. Vascular anomalies in lipoid proteinosis (hyalinosis cutis et mucosae): basementmembrane components and ultrastructure. J Dermatol Sci 2006;42(03):231–239. Doi: 10.1016/j.jdermsci.2006.01.004
» https://doi.org/10.1016/j.jdermsci.2006.01.004 -
4 Messina MJ, Nuzzaco G, Barbieri A, et al. Spontaneous intracerebral hemorrhage in Urbach-Wiethe disease. Neurology 2012;79 (16):1740–1741. Doi: 10.1212/WNL.0b013e31826e9a49
» https://doi.org/10.1212/WNL.0b013e31826e9a49
Edited by
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Editor-in-Chief:
Ayrton Roberto Massaro.
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Associate Editor:
Antonio José da Rocha.
