Progressive cognitive decline and myoclonus in a young woman: clinicopathological conference at the Edinburgh Advanced Neurology Course, 2007

In April 2002, a 24-year-old right-handed shop assistant developed “dizzy turns”. These were stereotyped and occurred several times a day. She described dysequilibrium, lasting 20–30 seconds, with speech arrest and altered awareness. Recovery from each attack was rapid, and in between attacks she was normal. Systemically she was well. Three months previously she had reported low mood, anxiety and headaches, which were considered to be the result of a recent bereavement and she had been treated conservatively. There was little in the way of significant background history of note with the exception of a single episode of abdominal pain of undetermined origin aged 6. She was taking no prescribed or illicit medication at presentation and there was no family history of neurological illness. There were no risk factors for HIV and she had never been outside the UK. In July 2002, she developed brief episodes of right-sided facial twitching. Each attack lasted approximately 20 seconds and awareness was preserved throughout. These were different, from the initial “dizzy turns” and became very frequent, occurring many times a day. An EEG technician reported right-sided “facial distortion” with associated speech arrest during one such episode. Neurological examination was normal, no diagnosis was made, and she was lost to follow-up. In January 2003, she fell and fractured her distal fibula. Her family became concerned in April 2003 when she became increasingly forgetful and withdrawn. Soon afterwards she developed frequent, brief body “spasms”. A further neurological review was sought, and she was seen in June 2003. This demonstrated a remarkable decline over only 11 months. She was awake and undistressed, but scored only 13/100 on the Addenbrooke’s cognitive examination. Verbal response was limited to single words and she was unable to follow single stage commands. Vertical upgaze was reduced and smooth pursuit eye movements lost. …