Imagem nas leucodistrofias do adulto

Leucodistrofias são doenças geneticamente determinadas. Apesar das leucodistrofias afetarem principalmente crianças lactentes e infantes, estas doenças podem acometer a faixa etária adulta. Nos adultos, as leucodistrofias podem ter uma apresentação clínica e de imagem distinta daquela da infância. Um aumento na suspeita clínica de leucodistrofias com início tardio deve ocorrer associado ao aparecimento de novas alternativas terapêuticas. Este artigo de revisão descreve sumariamente as características de imagem nas leucodistrofias no adulto.

leucodistrofias; formas do adulto; ressonância magnética; métodos de imagem

Autoria

Claudia Costa Leite

Departamento de Radiologia, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo SP, Brazil;Universidade de São PauloBrazilSao Paulo, SP, BrazilDepartamento de Radiologia, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo SP, Brazil;

Radiology Department, School of Medicine, University of North Carolina, Chapel Hill North Carolina, United States;University of North CarolinaUnited StatesChapel Hill, North Carolina, United StatesRadiology Department, School of Medicine, University of North Carolina, Chapel Hill North Carolina, United States;

Leandro Tavares Lucato

Instituto de Radiologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo SP, Brazil;Universidade de São PauloBrazilSao Paulo, SP, BrazilInstituto de Radiologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo SP, Brazil;

Germana Titoneli Santos

Fernando Kok

Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo SP, Brazil.Universidade de São PauloBrazilSao Paulo, SP, BrazilDepartamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo SP, Brazil.

Anderson Rodrigues Brandão

Mauricio Castillo

Correspondence:
Claudia Costa Leite; Radiologia, Faculdade de Medicina USP; Av. Dr. Ovidio Pires Campos, s/n Inrad Portaria 5, Ressonância Magnética; 05403-010 São Paulo SP, Brasil.

Conflict of interest: There is no conflict of interest to declare.

SCIMAGO INSTITUTIONS RANKINGS

Figuras

Figuras (10)

Thumbnail

Figure 1
Adrenomyeloneuropathy with brain involvement in a 36-year-old male. Axial FLAIR (A and B) demonstrates bilateral hyperintensities in the deep white matter, body of the corpus callosum and internal capsules. Axial enhanced T1-weighted images (C and D) shows enhancement of the internal capsules and the body of the corpus callosum (arrows).

Thumbnail

Figure 2
Adult cerebral leukodystrophy in a 54-year-old male with fast cognitive decline and pyramidal symptoms. Axial FLAIR and T2 (A and B) demonstrates bilateral periventricular, subcortical frontal and parieto-occipital white matter involvement. Note also hyperintensity in the internal capsules. Contrast enhanced axial T1-weighted images (C) shows faint enhancement in the periphery of the frontal lesions (arrows).

Thumbnail

Figure 3
Adult cerebral leukodystrophy with an asymmetric presentation in a 28-year-old male who had a direct trauma to the right parietal region a few months earlier. Axial FLAIR (A) demonstrates a subcortical lesion in the right parietal lobe. Enhanced axial T1-weighted image (B) shows a peripheral discontinuous rim of enhancement. Coronal T2-weighted image (C) shows extension of the signal abnormality to the internal capsule. Axial diffusion-weighted image (D) shows a hyperintense rim in the lesion.

Thumbnail

Figure 4
Late-onset Krabbe disease. Axial T2-weighted images (A and B) disclose bilateral and symmetric hyperintensity involving the corticospinal tracts from the centrum semiovale to the posterior limb of the internal capsule. There are similar changes appreciated in the splenium of corpus callosum.

Thumbnail

Figure 5
Adult-onset Alexander disease in a 47-year-old female. Axial FLAIR images shows atrophy of the medulla with hyperintensity in the projection of corticospinal tracts (arrow in A), bilateral hyperintensity in the deep cerebellar white matter (B) and in the cerebral hemispheres (C). Enhanced sagittal T1-weigted image (D) shows medulla and upper cervical cord atrophy (arrow).

Thumbnail

Figure 6
Vanishing white matter in a 48-year-old male. Axial T2-weighted (A) and FLAIR (B) images showing diffuse bilateral hyperintensity in the white matter extending to the U fibers, internal and external capsules, with cavitations in the deep white matter.

Thumbnail

Figure 7
Adult-onset autosomal dominant leukodystrophy with autonomic symptoms (ADLD) in a 54-year-old man. Axial T2 images (A and B) shows high signal in the deep cerebellar white matter, middle cerebellar peduncles and pons. Axial FLAIR images (C and D) demonstrate diffuse hyperintensities in the periventricular and subcortical white matter, splenium of corpus callosum and atrophy. The corticospinal tracts show hyperintensity in the internal capsules (arrows in C) and pons (arrows in B).

Thumbnail

Figure 8
Cerebrotendinous xanthomatosis in a 47-year-old male with ataxia. Coronal T2-weighted imaging (A) demonstrates hyperintensity in the deep cerebellar white matter. Axial T2* (B) and FLAIR images (C and D) show hyperintensity in the cerebellar hemispheres, cerebral peduncles (arrows in C), globus pallidus and deep cerebral white matter. Notice a hypointense area in B, seen in the left cerebellar hemisphere, a finding that can be appreciated eventually in the disease.

Thumbnail

Figure 9
Nasu-Hakola disease in a 46-year-old man. Unenhanced CT (A) shows punctuate calcifications in the lentiform nuclei. Axial FLAIR image (B) demonstrates mild hyperintensity in the periventricular white matter. Note cortical atrophy. A radiograph of the hands (C) demonstrates cystic lesions in the carpal bones bilaterally (arrows).

Thumbnail

Figure 10
CADASIL in a 54-year-old male. Axial T2-weighted image (A) shows white matter hyperintense lesions in the temporal poles (arrows). Axial FLAIR image (B) shows hyperintensity in the periventricular white matter and external capsule (arrows). Note hypointensity in the lentiform nucleus. Axial SWI (susceptibility-weighted image - C) demonstrates some hypointense foci in the basal ganglia that may represent microbleeds (arrows).

Figure 1 Adrenomyeloneuropathy with brain involvement in a 36-year-old male. Axial FLAIR (A and B) demonstrates bilateral hyperintensities in the deep white matter, body of the corpus callosum and internal capsules. Axial enhanced T1-weighted images (C and D) shows enhancement of the internal capsules and the body of the corpus callosum (arrows).

Figure 2 Adult cerebral leukodystrophy in a 54-year-old male with fast cognitive decline and pyramidal symptoms. Axial FLAIR and T2 (A and B) demonstrates bilateral periventricular, subcortical frontal and parieto-occipital white matter involvement. Note also hyperintensity in the internal capsules. Contrast enhanced axial T1-weighted images (C) shows faint enhancement in the periphery of the frontal lesions (arrows).

Figure 3 Adult cerebral leukodystrophy with an asymmetric presentation in a 28-year-old male who had a direct trauma to the right parietal region a few months earlier. Axial FLAIR (A) demonstrates a subcortical lesion in the right parietal lobe. Enhanced axial T1-weighted image (B) shows a peripheral discontinuous rim of enhancement. Coronal T2-weighted image (C) shows extension of the signal abnormality to the internal capsule. Axial diffusion-weighted image (D) shows a hyperintense rim in the lesion.

Figure 4 Late-onset Krabbe disease. Axial T2-weighted images (A and B) disclose bilateral and symmetric hyperintensity involving the corticospinal tracts from the centrum semiovale to the posterior limb of the internal capsule. There are similar changes appreciated in the splenium of corpus callosum.

Figure 5 Adult-onset Alexander disease in a 47-year-old female. Axial FLAIR images shows atrophy of the medulla with hyperintensity in the projection of corticospinal tracts (arrow in A), bilateral hyperintensity in the deep cerebellar white matter (B) and in the cerebral hemispheres (C). Enhanced sagittal T1-weigted image (D) shows medulla and upper cervical cord atrophy (arrow).

Figure 6 Vanishing white matter in a 48-year-old male. Axial T2-weighted (A) and FLAIR (B) images showing diffuse bilateral hyperintensity in the white matter extending to the U fibers, internal and external capsules, with cavitations in the deep white matter.

Figure 7 Adult-onset autosomal dominant leukodystrophy with autonomic symptoms (ADLD) in a 54-year-old man. Axial T2 images (A and B) shows high signal in the deep cerebellar white matter, middle cerebellar peduncles and pons. Axial FLAIR images (C and D) demonstrate diffuse hyperintensities in the periventricular and subcortical white matter, splenium of corpus callosum and atrophy. The corticospinal tracts show hyperintensity in the internal capsules (arrows in C) and pons (arrows in B).

Figure 8 Cerebrotendinous xanthomatosis in a 47-year-old male with ataxia. Coronal T2-weighted imaging (A) demonstrates hyperintensity in the deep cerebellar white matter. Axial T2* (B) and FLAIR images (C and D) show hyperintensity in the cerebellar hemispheres, cerebral peduncles (arrows in C), globus pallidus and deep cerebral white matter. Notice a hypointense area in B, seen in the left cerebellar hemisphere, a finding that can be appreciated eventually in the disease.

Figure 9 Nasu-Hakola disease in a 46-year-old man. Unenhanced CT (A) shows punctuate calcifications in the lentiform nuclei. Axial FLAIR image (B) demonstrates mild hyperintensity in the periventricular white matter. Note cortical atrophy. A radiograph of the hands (C) demonstrates cystic lesions in the carpal bones bilaterally (arrows).

Figure 10 CADASIL in a 54-year-old male. Axial T2-weighted image (A) shows white matter hyperintense lesions in the temporal poles (arrows). Axial FLAIR image (B) shows hyperintensity in the periventricular white matter and external capsule (arrows). Note hypointensity in the lentiform nucleus. Axial SWI (susceptibility-weighted image - C) demonstrates some hypointense foci in the basal ganglia that may represent microbleeds (arrows).

Como citar

copiar

Academia Brasileira de Neurologia - ABNEURO R. Vergueiro, 1353 sl.1404 - Ed. Top Towers Offices Torre Norte, 04101-000 São Paulo SP Brazil, Tel.: +55 11 5084-9463 | +55 11 5083-3876 - São Paulo - SP - Brazil
E-mail: revista.arquivos@abneuro.org

Acompanhe os números deste periódico no seu leitor de RSS

Versão para download de PDF

PDF

Inglês

Versões e tradução automática

Versão original do texto

English

Tradução automática

Google Translator
Microsoft Translator

Como citar

RIS

BIBTEX

Outros formatos de citação e exportação:

SciELO - Scientific Electronic Library Online
Rua Dr. Diogo de Faria, 1087 – 9º andar – Vila Clementino 04037-003 São Paulo/SP - Brasil
E-mail: scielo@scielo.org

Leia a Declaração de Acesso Aberto

Métricas

Imagem nas leucodistrofias do adulto

PlumX

Mensagem

[1] Correspondence:
Claudia Costa Leite; Radiologia, Faculdade de Medicina USP; Av. Dr. Ovidio Pires Campos, s/n Inrad Portaria 5, Ressonância Magnética; 05403-010 São Paulo SP, Brasil.