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Leukoencephalopathy with calcifications and cysts

ORPHA:542310· ICD-10 I67.8

Definition

A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Adolescent, Adult, Childhood, Infancy