Leukoencephalopathy with calcifications and cysts

Orpha code: 542310OMIM code: 614561

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.

Disease data
Classification

Disease

Synonyms
LCC
Zespół Labrunego
Labrune syndrome
ORPHA code
542310
OMIM code
614561
ICD10 code
I67.8
ICD11 code
-

No additional description.

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