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Images in Neurology
December 2016

A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems

Author Affiliations
  • 1Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
  • 2Neurology Department, Newcastle Upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom
  • 3Endocrinology Department, Newcastle Upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom
  • 4Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom
  • 5Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
JAMA Neurol. 2016;73(12):1494-1495. doi:10.1001/jamaneurol.2016.3613

A woman in her 30s with intellectual disability, primary amenorrhoea, and focal seizures (Figure, A) described 2 years of progressive balance difficulties. On examination, she had short stature (1.45 m), cerebellar ataxia, and a visual acuity of 6/60 OU. T2-weighted magnetic resonance imaging showed severe cerebellar atrophy, an atrophic corpus callosum, and patchy signal change in the corona radiata suggestive of hypomyelination (Figure, B).

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