MRCP2-3001

MRCP2-3001

A 23-year-old female presents to a neurologist with involuntary movements affecting her arms and legs, described as a ‘shock wave’. She reports these movements occurring frequently throughout the day but not causing pain. Additionally, she has experienced cognitive decline and poor memory. The patient has a history of tonic-clonic seizures and was recently diagnosed with impaired glucose tolerance, for which she takes carbamazepine. There is a family history of early onset dementia on her mother’s side. On examination, the patient appears to have slow mentation and exhibits impaired recall. Fundoscopy reveals bilateral optic atrophy, and there is some slight weakness of shoulder abduction. Investigations show normal serum electrolytes and renal function, with a slightly elevated serum carbamazepine level within the therapeutic range. A lumbar puncture reveals elevated CSF opening pressure and lactate, with normal protein and white cell count. EEG shows generalised slow waves, and MRI brain scan is normal. Based on these findings, what is the likely diagnosis for this patient?