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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.
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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