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Cerebral T2 weighted MRI of an 8 year old boy with impaired visual acuity and seizures due to CCALD. The extensive damage inflicted on the occipital periventricular white matter is evident. Three of his maternal uncles died before the age of 10, but his mother had normal VLCFAs in plasma and skin fibroblasts and somehow had understood that she could not be a heterozygote. Retrospectively, his first neurological symptoms consisted of divergent strabism for which he was operated on twice. He died at the age of 10 years | Dr EL Mooyaart, University Hospital, Groningen, the Netherlands

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