Leukoencephalopathy with calcifications and cysts

Orpha code: 542310OMIM code: 614561

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
LCC
Zespół Labrunego
Labrune syndrome
Kod ORPHA
542310
Kod OMIM
614561
Kod ICD10
I67.8
Kod ICD11
-

No additional description.

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