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. Author manuscript; available in PMC: 2020 Dec 1.

Published in final edited form as: Mol Genet Metab. 2018 Nov 8;126(1):53–63. doi: 10.1016/j.ymgme.2018.11.001

1.1. Patient 1: Axial MRI images obtained at 10 months (upper panel) and 13 months (lower panel) of age. Images a, b, c, d and e are T2 weighted, and image f is a diffusion weighted sequence (DWI). At 10 months of age, nonenhancing cystic appearing focus at the cervical medullary junction was noted, which had similar signal intensity to CSF in all imaging modalities (a, b). Bilateral symmetrical hyperintensities are noted in the midbrain (c) and thalami with a semicircular shape (d). In the MRI obtained 3 months later, the extension of thalamic lesions are noted (e). New bilateral and symmetrical areas of restricted diffusion are also noted in frontal lobes, and thalami (f).

1.2. Patient 2: Axial MRI images obtained at 7 years (upper panel), 4 months later (middle panel) and at 14 years (lower panel) of age. All images are T2 weighted images. At 7 years of age, bilateral symmetrical hyperintensities are noted in the cerebral peduncles as well as in the lower medulla and extensively throughout the spinal cord. Bilateral thalami are unaffected. In the MRI obtained 4 months later, extensive abnormal foci of T2 prolongation in the cerebral peduncles, and increased signal is seen within the medulla extending into the cervicomedullary junction. The MRI at 14 years of age shows new cystic appearing lesions in the bilateral caudate, which had similar signal intensity to CSF in all imaging modalities. Interval atrophy of the cervical spinal cord with persistent intramedullary signal abnormality is seen but similar to the past, bilateral thalami remain unaffected. Diffuse posterior fossa atrophy is noted (not shown).

1.3. Patient 3: Axial MRI images obtained at 4 months (upper panel) and 8 months (lower panel) of age. Images a, b, e, f, g and h are T2 weighted images, and images c and d are diffusion weighted sequence (DWI). MRI obtained at 4 months shows extensive abnormal symmetrical T2 hyperintense signals involving large portions of the thalamus and midbrain, with restricted diffusion. There is also abnormal symmetrical T2 hyperintense signal with restricted diffusion in the bilateral posterior limbs of the internal capsules. The cerebellum and cerebellar white matter appeared spared. At 8 months of age, diffuse abnormal high signal involving the thalami, brainstem and proximal cervical spinal cord are noted. Since the prior study, T2 hyperintense signal is less extensive in the thalami, midbrain and internal capsule, but progression of disease in the pons and medulla with associated new areas of restricted diffusion is detected. Extensive abnormal T2 signal throughout the cervical and thoracic spinal cord to the level of T12, with most involvement in the cervical cord and cervicomedullary junction.

1.4. Patient 4: Axial MRI images obtained at 9 months (left panel) and 12 months (right panel) of age. Images a and c are T2 weighted images, and images b and d are diffusion weighted sequence (DWI). At 9 months, bilateral symmetrical hyperintensities are noted in thalami, with a semicircular shape. these thalamic bilateral signal abnormalities also show restricted diffusion on the DWI sequence. In the MRI obtained 3 months later, the putamen is also involved with cystic lesions. Small bilateral and symmetrical hyperintense areas are also noted in the frontal lobes and areas surrounding quadrigeminal cistern. The thalamic lesions have evolved since prior exam likely due to evolution from acute infarction with restricted diffusion to a chronic insult.

1.1. Patient 1: Axial MRI images obtained at 10 months (upper panel) and 13 months (lower panel) of age. Images a, b, c, d and e are T2 weighted, and image f is a diffusion weighted sequence (DWI). At 10 months of age, nonenhancing cystic appearing focus at the cervical medullary junction was noted, which had similar signal intensity to CSF in all imaging modalities (a, b). Bilateral symmetrical hyperintensities are noted in the midbrain (c) and thalami with a semicircular shape (d). In the MRI obtained 3 months later, the extension of thalamic lesions are noted (e). New bilateral and symmetrical areas of restricted diffusion are also noted in frontal lobes, and thalami (f).

1.2. Patient 2: Axial MRI images obtained at 7 years (upper panel), 4 months later (middle panel) and at 14 years (lower panel) of age. All images are T2 weighted images. At 7 years of age, bilateral symmetrical hyperintensities are noted in the cerebral peduncles as well as in the lower medulla and extensively throughout the spinal cord. Bilateral thalami are unaffected. In the MRI obtained 4 months later, extensive abnormal foci of T2 prolongation in the cerebral peduncles, and increased signal is seen within the medulla extending into the cervicomedullary junction. The MRI at 14 years of age shows new cystic appearing lesions in the bilateral caudate, which had similar signal intensity to CSF in all imaging modalities. Interval atrophy of the cervical spinal cord with persistent intramedullary signal abnormality is seen but similar to the past, bilateral thalami remain unaffected. Diffuse posterior fossa atrophy is noted (not shown).

1.3. Patient 3: Axial MRI images obtained at 4 months (upper panel) and 8 months (lower panel) of age. Images a, b, e, f, g and h are T2 weighted images, and images c and d are diffusion weighted sequence (DWI). MRI obtained at 4 months shows extensive abnormal symmetrical T2 hyperintense signals involving large portions of the thalamus and midbrain, with restricted diffusion. There is also abnormal symmetrical T2 hyperintense signal with restricted diffusion in the bilateral posterior limbs of the internal capsules. The cerebellum and cerebellar white matter appeared spared. At 8 months of age, diffuse abnormal high signal involving the thalami, brainstem and proximal cervical spinal cord are noted. Since the prior study, T2 hyperintense signal is less extensive in the thalami, midbrain and internal capsule, but progression of disease in the pons and medulla with associated new areas of restricted diffusion is detected. Extensive abnormal T2 signal throughout the cervical and thoracic spinal cord to the level of T12, with most involvement in the cervical cord and cervicomedullary junction.

1.4. Patient 4: Axial MRI images obtained at 9 months (left panel) and 12 months (right panel) of age. Images a and c are T2 weighted images, and images b and d are diffusion weighted sequence (DWI). At 9 months, bilateral symmetrical hyperintensities are noted in thalami, with a semicircular shape. these thalamic bilateral signal abnormalities also show restricted diffusion on the DWI sequence. In the MRI obtained 3 months later, the putamen is also involved with cystic lesions. Small bilateral and symmetrical hyperintense areas are also noted in the frontal lobes and areas surrounding quadrigeminal cistern. The thalamic lesions have evolved since prior exam likely due to evolution from acute infarction with restricted diffusion to a chronic insult.