A young woman with slowly-progressive generalized dystonia

Abstract

A 25-year-old woman of Lebanese descent was seen with generalized dystonia. Birth history and early developmental milestones were normal. However, from the age of 13 years she had trouble running with occasional falls and her voice became indistinct. Three years after this, she developed cervical dystonia. She also had dystonic cramps in her legs. There was no history of parental consanguinity, and family history was remarkable only for maternal diabetes. Examination revealed generalized dystonia, worst in the neck and left leg. She was moderately dysarthric. There was moderate parkinsonism. Bedside testing of cognition was normal, as was ophthalmological examination. MRI and CT brain are shown (Fig. 1, Fig. 2). Serum caeruloplasmin level was normal at 0.31 g/L (0.22–0.55). Serum lactate was elevated at 2.9 mmol/L (0.2–1.8). Fig. 2Computed tomography brain scan. View Large Image Figure Viewer Download Hi-res image A young woman with slowly-progressive generalized dystoniaJournal of Clinical NeuroscienceVol. 15Issue 1Preview(D) Leigh’s syndrome (LS), or subacute necrotizing encephalomyelopathy. Full-Text PDF