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Leukoencephalopathy with calcifications and cysts
Disease 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.
ORPHA:542310
Classification level: Disorder- Synonym(s):
- LCC
- Labrune syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Childhood, Adolescent, Adult
- ICD-10: -
- OMIM: 614561
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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