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).
Hughes AJC, Steele HE, Pyle A, Hart Y, Quinton R, Chinnery PF. A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems. JAMA Neurol. 2016;73(12):1494-1495. doi:10.1001/jamaneurol.2016.3613