Abstract
We describe the cases of 2 patients, a father and his son, with DRPLA who underwent MR examinations prior to death and in whom postmortem examinations of the brain were obtained. MR imaging findings had the following features: 1) atrophy of the cerebellum and brain stem were the common findings, 2) high-signal-intensity lesions in the cerebral white matter and brain stem were observed on T2-weighted images in the patient with adult-onset DRPLA, 3) signal-intensity changes in the cerebral white matter were restricted to the periventricular white matter in the patient with juvenile-onset DRPLA, but these changes appear in the advanced stage, and 4) progressive cerebral atrophy was more marked in the patient with juvenile-onset DRPLA. In the patients with DRPLA, the abnormal high signal intensity of the cerebral white matter or brain stem on MR images reflect the loss of myelinated fibers. Cerebral atrophy mainly reflects atrophy of the neuropile.
Highlights
DRPLA is an autosomal dominant neurodegenerative disorder characterized by various combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis, dementia, and psychiatric symptoms.[1]
The cardinal features in adults are ataxia, choreoathetosis, and dementia, whereas cardinal features in children are ataxia, dementia, myoclonus, and epilepsy
To clarify the radiologic-pathologic correlation of DRPLA, we present the cases of 2 patients in a family who underwent MR imaging examinations before death and in whom postmortem examinations of the brain were performed
Summary
SUMMARY: We describe the cases of 2 patients, a father and his son, with DRPLA who underwent MR examinations prior to death and in whom postmortem examinations of the brain were obtained. In the patients with DRPLA, the abnormal high signal intensity of the cerebral white matter or brain stem on MR images reflect the loss of myelinated fibers. Diffuse high-signal-intensity lesions in the cerebral white matter are often observed on T2weighted images in patients with adult-onset DRPLA. High-signal-intensity lesions in the brain stem and thalamus can be observed on T2-weighted images. In patients with juvenile-onset DRPLA, marked progression of cerebral atrophy is often noted, whereas involvement of the cerebral white matter may appear in the advanced stage of the disease. To clarify the radiologic-pathologic correlation of DRPLA, we present the cases of 2 patients in a family who underwent MR imaging examinations before death and in whom postmortem examinations of the brain were performed.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
