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A Caucasian woman in her 50s had a 6-month history of progressive left arm and leg weakness with difficulty walking and inco-ordination. She also had intermittent visual blurring and poor memory. She had been previously well with no relevant family history. On examination, there was a left hemiparesis and ataxic gait.
CT and MR scans of the brain showed extensive leukoencephalopathy with cysts and multiple foci of calcification (figure 1). Cerebrospinal fluid analysis showed oligoclonal bands but was otherwise normal. Plasma amino acids, white cell enzymes, very-long-chain fatty acids and bile acids were normal.
Axial CT scan of head (A) shows confluent low attenuation throughout the white matter with calcifications within the basal ganglia and thalami. Axial T2-weighted imaging (B) and FLAIR (C) shows extensive white matter T2 hyperintensity with several cysts, the largest within the right parietal lobe. Susceptibility-weighted imaging (D) depicts multiple foci of signal dropout, most likely due to calcification. Diffusion weighted imaging (E) and apparent diffusion coefficient (F) shows some peripheral areas of reduced diffusivity within the large areas of white matter signal change. Precontrast and postcontrast T1-weighted imaging (G, H) show multiple foci of pathological contrast enhancement within …
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Twitter @linford_f
Contributors All authors were involved in the care of the patient and contributed to the writing and approval of the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned. Externally peer reviewed by Michael O’Sullivan, Brisbane, Australia.
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