RV: Leukoencephalopathy with cerebral calcifications and cysts

The patient is a 20-year-old woman with an unremarkable family history who began to have focal seizures at age 1 month. Progressive ataxia, generalized dystonia, spasticity, dysarthria, and cognitive decline started at age 14 months. At age 8 years she was wheelchair-bound, and at age 19 years she had severe dementia. Leukodystrophy, brain calcifications, and parenchymal cysts as a particular disorder was first described in 1996.1,2 Clinical manifestations include dementia, ataxia, and pyramidal and ex-trapyramidal findings. Imaging is important in the diagnosis of leukoencephalopathy with cerebral calcifications and cysts, since the combination of these findings is unusual. Gradient echo imag-ing revealed the extent of the abnormalities not seen by conven-tional MRI and CT (figure, A, B). 1. Labrune P, Lacroix C, Goutieres F, et al. Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. Neurology 1996;46