Imaging of adult leukodystrophies

Leukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults. In adults, leukodystrophies may present a distinct clinical and imaging presentation other than those found in childhood. Clinical awareness of late-onset leukodystrophies should be increased as new therapies emerge. MRI is a useful tool to evaluate white matter disorders and some characteristics findings can help the diagnosis of leukodystrophies. This review article briefly describes the imaging characteristics of the most common adult leukodystrophies.

leukodystrophies; adult form; magnetic resonance imaging; imaging

Authorship

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

Figures

Figures (10)

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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).

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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).

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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.

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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.

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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).

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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.

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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).

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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.

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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).

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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).

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Imaging of adult leukodystrophies

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[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.