Case report reveals clinical improvement in leukoencephalopathy with calcifications and cysts, suggesting potential benefit of tiapride.
Background: Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive disorder caused by mutations in the SNORD118 gene. It presents with various neurological symptoms like seizures, cerebellar or pyramidal signs, or raised intracranial pressure due to cysts. In the absence of curative treatment options, clinical management focuses on symptom control and maintaining quality of life.
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Sigel et al. (2025) studied this question.
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