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We describe a patient presenting with the clinical phenotype of sporadic CJD and very extensive brain abnormalities on MRI. The final diagnosis was gliomatosis cerebri (GC) and was only proven after a second cerebral biopsy.
A 55 year old female accounts clerk presented in March 2004 with a history of approximately 6 weeks of memory disturbance. She had trouble recalling her children’s birthdays and recent conversations, and performing familiar tasks at work. Her husband also noted some change to her personality, in that she was more gregarious and less cautious than usual. This was in addition to a background of several months’ sleepiness where she would sleep soundly overnight and also require a sleep regularly during the day. There had been no alteration to her weight or appetite during this time. Just prior to initial review she experienced two unexplained episodes of urinary incontinence. Headache was never a feature.
Her medical history was only remarkable for hypothyroidism, treated with thyroxine replacement, and there was no relevant family history.
Physical examination revealed extrapyramidal features with hypomimia and a monotonous hypophonic voice. Her gait demonstrated mild bilateral (asymmetric) reduction in arm swing. Ocular movements were normal. She displayed mild bilateral bradykinesia, but there was no axial or limb rigidity or tremor. Power, …
Competing interests: none declared
Patient details are published with consent