Article
Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.
BMC neurology - 4 Jul 2015
Meyer-Ohlendorf Marie, Braczynski Anne, Al-Qaisi Omar, Gessler Florian, Biskup Saskia, Weise Lutz, Steinbach Joachim P, Wagner Marlies, Mittelbronn Michel, Bähr Oliver
Abstract excerpt
BACKGROUND: Hereditary diffuse leukodystrophy with spheroids is a rare type of leukoencephalopathy. Mutations in the colony stimulating factor 1 receptor have recently been identified to be the cause of this microgliopathy. Clinical and radiological presentation can often misguide physicians during the diagnosis of patients with this underdiagnosed disease. CASE PRESENTATION: We present a 29 year-old woman with a...
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