PMC:3506840 / 4345-5936 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T21","span":{"begin":664,"end":681},"obj":"Phenotype"},{"id":"T22","span":{"begin":1409,"end":1443},"obj":"Phenotype"},{"id":"T23","span":{"begin":1471,"end":1485},"obj":"Phenotype"},{"id":"T24","span":{"begin":1544,"end":1553},"obj":"Phenotype"}],"attributes":[{"id":"A21","pred":"hp_id","subj":"T21","obj":"http://purl.obolibrary.org/obo/HP_0007366"},{"id":"A22","pred":"hp_id","subj":"T22","obj":"http://purl.obolibrary.org/obo/HP_0002134"},{"id":"A23","pred":"hp_id","subj":"T23","obj":"http://purl.obolibrary.org/obo/HP_0002415"},{"id":"A24","pred":"hp_id","subj":"T24","obj":"http://purl.obolibrary.org/obo/HP_0002650"}],"text":"Fig. 1 Serial radiological studies. A First MRI of the medulla oblongata (at age 11): axial T2-weighted image (T2-WI) (a), T1-WI (b), and T1-WI with gadolinium enhancement (c) of axial sections. The lesion is 7 mm in size, hyper-intense, but hypo-intense inside on T2-WI (a), iso- to hypo-intense on T1-WI (b), with contrast enhancement (c). Except for the bilateral hilus of the dentate nucleus (same as 14 years later; C-c), no other signal abnormalities were noted (data not shown). The enhancement disappeared 2 years later (data not shown), although, the plaque remains. B Chronological sagittal section of the brainstem MRI at age 11 (a), 16 (b) and 25 (c). Brainstem atrophy is unremarkable at age 11 (a), although, with time, progressive atrophy of medulla oblongata is seen (b, c). The anterior–posterior diameter at the middle of the medulla oblongata was 11.7 mm at age 11 (a), but only 8.8 mm at age 25 (c). C Radiological study at age 25. Axial T2-WI (a–c). Moderate atrophy of cervical spinal cord (a) and medulla (b) are seen. A small plaque in the dorsal part of medulla oblongata (b) without contrast enhancement (data not shown) remains, although its size has not changed since age 11 (A-a). The hilus of the dentate nucleus is hyper-intense bilaterally without enhancement (data not shown), although, no other signal change is detected in the brainstem (c). No pontine or midbrain atrophy, abnormalities in the basal ganglia, “ventricular garlands” or leukodystrophy in deep white matter were observed (data not shown). Mild scoliosis was also observed in this patient (d)"}