An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report

Autor:	Matteo Grazzini, Lucia Trevisan, Andrea Accogli, Annalia Cianflone, Luca Roccatagliata, Cinzia Finocchi, Marina Grandis, Laura Saitta, Paola Mandich, Elisabetta Capello
Rok vydání:	2021
Předmět:	Pediatrics medicine.medical_specialty Cerebellar ataxia business.industry medicine.disease Leukoencephalopathy Vanishing white matter disease Arts and Humanities (miscellaneous) Aphasia Diffuse leukoencephalopathy medicine Brain mri Neurology (clinical) Spasticity medicine.symptom Cognitive decline business
Zdroj:	Neurocase. 27:452-456
ISSN:	1465-3656 1355-4794
Popis:	Vanishing White Matter Disease (VWMD) is a rare autosomal recessive leukoencephalopathy . The classical presentation is characterized by a severe cerebellar ataxia, spasticity, neurological deterioration with a chronic progressive course and episodes of acute neurological deterioration after stress conditions.We report a 52-year-old man with VWMD and atypical features who manifested two major events of transient aphasia eleven years apart with complete recovery in 48 hours. No cognitive decline was present. Brain MRI revealed typical aspects of VWMD including diffuse leukoencephalopathy with relative sparing of U-fibers. We identified the presence of c.592G>A (p.Glu198Lys) and c.1360 C>T (p.Pro454Ser) mutations in EIF2B5.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::5edf47f8d3d6559ab555871a1ad0a442 https://doi.org/10.1080/13554794.2021.1999984 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.