Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab

Abstract

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 effective treatment, but the use of the vascular endothelial growth factor (VEGF)-blocker bevacizumab was utilized in one patient, apparently with an improvement in the clinical and radiological features.