CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy: mystery case responses

Autor: Ayrignac, X, Mouzat, K, Magnin, E, Berger, E, Carra-Dallière, C, Lumbroso, S, Labauge, P, Ganesh, A
Rok vydání: 2017
DOI: 10.1212/wnl.0000000000003370
Popis: A 37-year-old man was referred for a 1-year history of word naming difficulties and progressive executive dysfunction along with anxiety. Clinical examination showed generalized hyperreflexia and bilateral Babinski sign but was otherwise normal. His brain MRI (figure, A and B) showed extensive leukoencephalopathy with multiple small cysts within the white matter changes and no gadolinium enhancement. CT identified punctate calcifications with deep frontal and juxtacortical distribution (figure, C and D). His mother died at 63 years after a 10-year history of progressive cognitive impairment of frontal type, walking difficulties, and urinary incontinence. Her brain imaging was strikingly similar to her son's (figure, E–H).
Databáze: OpenAIRE