Treatment of Leukoencephalopathy with Calcifications and Cysts with Bevacizumab

Publication date: Available online 23 March 2017
Source:Pediatric Neurology
Author(s): A.J. Fay, A.A. King, J.S. Shimony, Y.J. Crow, J.E. Brunstrom-Hernandez
BackgroundLeukoencephalopathy with Calcifications and Cysts (LCC) is a rare, autosomal recessive cerebral microangiopathy that causes progressive white matter disease, calcifications and cysts within the brain, typically associated with slowly progressive psychomotor regression, seizures, and movement disorders. While LCC affects only the central nervous system, it demonstrates remarkable neuropathological and radiological overlap with Coats plus, a disorder of small vessels of the brain, eyes, gastrointestinal tract and bone. Coats disease without extraocular involvement, a genetically distinct disorder from Coats plus, is characterized by retinal telangiectasias and exudative retinopathy, accompanied by neovascularization. Inhibition of vascular endothelial growth factor (VEGF) signaling with the monoclonal anti-VEGF antibody bevacizumab can improve retinal edema and exudates in Coats disease. Given these observations, we reasoned that VEGF inhibition might also be effective in treating LCC and Coats plus, neither of which has any known therapy.MethodsWe treated an 18-year-old man with LCC using biweekly infusions of the VEGF inhibitor bevacizumab over one year, and performed clinical examinations and brain imaging at three month intervals.ResultsOver one year of treatment, the patient showed improved bradykinesia and range of motion, and brain magnetic resonance imaging (MRI) demonstrated a marked reduction in cyst volume and white matter lesions.ConclusionsFurther studies in a cohort of patients are warranted to investigate the efficacy of VEGF inhibition as a treatment for LCC.



http://ift.tt/2mvqc9R