A diagnostic challenge of late onset adult merosinopathy

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A 51-year-old caucasian woman presented with a 6 year history of, initially exercise dependent, proximal leg weakness. Her brain MRI showed extensive, predominantly supratentorial white matter changes, that could not be attributed to her known hypertension. She had a single grand mal seizure as a teenager upon photostimulation and suffers from migraine with aura. Her mother was reported to suffer from epilepsy due to traumatic brain injury and her two sisters were said to have skeletal deformities due to use of analgetics during the pregnancies.

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