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Three siblings—two men aged 40 and 50 years and a woman aged 36 years—born from consanguineous parents, had histories of delayed motor milestones (walking only after aged 3 years), intellectual disability (unable to read and write) and epilepsy. MR scan of brain (figure 1) showed that all three had the same pattern of white matter changes with confluent periventricular and deep white matter hyperintensities.
Contributors 1. Case report project: A. Conception, B. Organisation, C. Execution; 2. Imaging: A. Conception, B. Organisation, C. Execution; 3. Manuscript: A. Writing of the first draft, B. Review and critique. IdAF: 1A, 1B, 1C, 2A, 3A, 3B. TCV: 1A, 2A, 2B, 3A, 3B. AMdAF: 1A, 1B, 1C, 2A, 3A, 3B. FGG: 2A, 2B, 2C, 3A, 3B. MMR: 1A, 1B, 3A, 3B.
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 reviewed by Robin Lachmann, London, UK.