{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T00:03:24Z","timestamp":1784333004095,"version":"3.55.0"},"reference-count":63,"publisher":"Georg Thieme Verlag KG","issue":"05","license":[{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"vor","delay-in-days":77,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Leukodystrophies are inherited disorders that primarily affect the central nervous system white matter and often present with nonspecific symptoms, making early diagnosis difficult. Magnetic resonance imaging (MRI) is the key initial imaging test because it reveals characteristic myelin patterns that can guide biochemical and genetic workups.<\/jats:p>\n                  <jats:p>To review clinically useful MRI and MR spectroscopy (MRS) patterns in major leukodystrophies and emphasize their diagnostic relevance using a practical, pattern-recognition approach.<\/jats:p>\n                  <jats:p>Narrative review of the literature integrating conventional MRI, including T1\/T2 fluid-attenuated inversion recovery (FLAIR), and diffusion-weighted imaging (DWI), as well as advanced techniques (MRS), with a pictorial, case-based approach.<\/jats:p>\n                  <jats:p>The pivotal imaging distinction is between hypomyelination\u2014diffuse, persistent T2\/FLAIR hyperintensity with relative temporal stability and absent enhancement\u2014and demyelination, characterized by confluent, progressive lesions with disorder-specific topographic predilection. Recognizable signatures include U-fiber sparing and a tigroid pattern in metachromatic leukodystrophy (MLD); parieto-occipital predominance with trizonal enhancement and restricted diffusion in X-linked adrenoleukodystrophy (X-ALD); frontal predominance and the \u201ctadpole sign\u201d in Alexander's disease; optic pathway and thalamic involvement in Krabbe's disease; markedly elevated N-acetylaspartate (NAA) on MRS in Canavan's disease; and tract-selective leukoencephalopathy brainstem\/spinal cord involvement with a lactate peak (LBSL). These imaging clues refine differential diagnosis, guide targeted genetic testing, and support longitudinal monitoring.<\/jats:p>\n                  <jats:p>The use of MRI\u2014especially when complemented by DWI and MRS\u2014remains central for early recognition and classification of leukodystrophies. A structured, pattern-based approach integrating clinical context with imaging topography can reduce diagnostic delay and support timely management.<\/jats:p>","DOI":"10.1055\/s-0046-1824758","type":"journal-article","created":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T23:20:41Z","timestamp":1784330441000},"page":"001-014","source":"Crossref","is-referenced-by-count":0,"title":["Magnetic resonance imaging in leukodystrophies: characteristic patterns and diagnostic relevance"],"prefix":"10.1055","volume":"84","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-6885-8646","authenticated-orcid":false,"given":"Matheus de Lima","family":"Ruffini","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul, Faculdade de Medicina, Departamento de Radiologia e Oncologia, Porto Alegre RS, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1148-2610","authenticated-orcid":false,"given":"Danilo de Assis","family":"Pereira","sequence":"additional","affiliation":[{"name":"Pontif\u00edcia Universidade Cat\u00f3lica de S\u00e3o Paulo, S\u00e3o Paulo SP, Brazil."},{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Campinas SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3400-5064","authenticated-orcid":false,"given":"Rafael Saliba","family":"Helmer","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Campinas SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0786-5571","authenticated-orcid":false,"given":"Adolfo Moraes de","family":"Souza","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul, Faculdade de Medicina, Departamento de Radiologia e Oncologia, Porto Alegre RS, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-2436-2649","authenticated-orcid":false,"given":"Bernardo Savaya","family":"Lima","sequence":"additional","affiliation":[{"name":"Pontif\u00edcia Universidade Cat\u00f3lica de S\u00e3o Paulo, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-4073-7340","authenticated-orcid":false,"given":"Gabrielle","family":"Baccarin","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Campinas SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-9949-1208","authenticated-orcid":false,"given":"Gustavo Kazuo","family":"Yamada","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Campinas SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2661-4791","authenticated-orcid":false,"given":"Luiz Fernando Monte","family":"Borella","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Campinas SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3592-184X","authenticated-orcid":false,"given":"Renan Denadai","family":"Turci","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas, Faculdade de Ci\u00eancias M\u00e9dicas, Campinas SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4973-2889","authenticated-orcid":false,"given":"Juliana \u00c1vila","family":"Duarte","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul, Faculdade de Medicina, Departamento de Radiologia e Oncologia, Porto 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