PMC:5097349 / 5378-6970
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5097349","sourcedb":"PMC","sourceid":"5097349","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5097349","text":"Her brain MRI demonstrated bilateral and symmetric abnormal signals without gadolinium enhancement, which were predominantly distributed in the periventricular, and subcortical white matter. Diffusion Weighted Imaging (DWI) revealed slightly hyperintensity in the periventricular areas. Magnetic resonance angiography was normal [Fig. 2]. The marked atrophy of the medullary oblongata and thoracic spinal cord was seen, while the atrophy of cervical spinal cord was relatively mild. Abnormal T2 hyperintensity was noted in the pyramidal tract of spine. With symptoms progressively worsening, medullary and cerebellar atrophy accelerated [Fig. 3]. Her daughter brain MRI showed abnormality in the periventricular white matter [Fig. 4].\nFig. 2 Axial Brain MRI showed low T1-weighted signals (a), high T2-weighted signals (b), and hyperintensity in FLAIR image(c) around the periventricular area. MRI with contrast enhancement was normal (d). DWI revealed slight hyperintensity (e). MRA were normal (f)\nFig. 3 Axial spinal MRI showed hyperintensity involving the corticospinal tracts extends from the carotid 2 (a arrowhead) to carotid 7 cord (b arrowhead) in T2WI image, mild atrophy of cervical spinal cord in sagittal T1WI image (c), severe atrophy of whole thoracic segments in sagittal T2WI image, which is similar to the typical “tadpole” (d), medullary atrophy at 3 years after onset (e, f), and severe medulla and cerebellar atrophy 1 years later (g, h)\nFig. 4 Axial FLAIR image of the asymptomatic daughter of our patient show band-like hyperintense lesions around the lateral ventricle","divisions":[{"label":"figure","span":{"begin":735,"end":999}},{"label":"label","span":{"begin":735,"end":741}},{"label":"caption","span":{"begin":742,"end":999}},{"label":"p","span":{"begin":742,"end":999}},{"label":"figure","span":{"begin":1000,"end":1458}},{"label":"label","span":{"begin":1000,"end":1006}},{"label":"caption","span":{"begin":1007,"end":1458}},{"label":"p","span":{"begin":1007,"end":1458}},{"label":"label","span":{"begin":1459,"end":1465}}],"tracks":[{"project":"AxD_symptoms","denotations":[{"id":"T19","span":{"begin":606,"end":624},"obj":"Phenotype"},{"id":"T20","span":{"begin":677,"end":724},"obj":"Phenotype"},{"id":"T21","span":{"begin":1419,"end":1437},"obj":"Phenotype"}],"attributes":[{"id":"A19","pred":"hp_id","subj":"T19","obj":"http://purl.obolibrary.org/obo/HP_0001272"},{"id":"A20","pred":"hp_id","subj":"T20","obj":"http://purl.obolibrary.org/obo/HP_0002518"},{"id":"A21","pred":"hp_id","subj":"T21","obj":"http://purl.obolibrary.org/obo/HP_0001272"},{"subj":"T19","pred":"source","obj":"AxD_symptoms"},{"subj":"T20","pred":"source","obj":"AxD_symptoms"},{"subj":"T21","pred":"source","obj":"AxD_symptoms"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AxD_symptoms","color":"#93ecbd","default":true}]}]}}