Apparent radiological improvement in an infant with Labrune syndrome treated with bevacizumab

Leukoencephalopathy with intracranial calcification and cysts (LCC) is a rare genetic disorder characterized by progressive cerebral degeneration, seizures, and a mixture of extrapyramidal, pyramidal and cerebellar signs.1,2 LCC is associated with mutations in the small nucleolar RNA, C/D box 118 gene (SNORD118) inherited as an autosomal recessive trait.3 To date, 59 patients have been described with biallelic mutations in this gene. LCC has no known treatment, however, the use of the VEGF-blocker bevacizumab has been described in a single case, apparently associated with an improvement in clinical and radiological features.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Short Communication Source Type: research