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

2020; Elsevier BV; Volume: 112; Linguagem: Inglês

10.1016/j.pediatrneurol.2020.07.011

1873-5150

Marina Martínez-Matilla, Jesús‐José Ferre‐Fernández, María José Aparisi, Ana Victoria Marco Hernández, Juan Antonio Cerón, Yanick J. Crow, Francisco Martı́nez, Miguel Tomás‐Vila, Laia Pedrola,

Mitochondrial Function and Pathology

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 Labrune P. Lacroix C. Goutières F. et al. Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. Neurology. 1996; 46: 1297-1301 Crossref PubMed Google Scholar ,2 Livingston J.H. Mayer J. Jenkinson E. et al. Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. Neuropediatrics. 2014; 45: 175-182 Crossref PubMed Scopus (31) Google Scholar LCC is associated with mutations in the small nucleolar RNA, C/D box 118 gene (SNORD118), inherited as an autosomal recessive trait. 3 Jenkinson E.M. Rodero M.P. Kasher P.R. et al. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet. 2016; 48: 1185-1192 Crossref PubMed Scopus (65) Google Scholar 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. 4 Fay A.J. King A.A. Shimony J.S. Crow Y.J. Brunstrom-Hernandez J.E. Treatment of leukoencephalopathy with calcifications and cysts with bevacizumab. Pediatr Neurol. 2017; 71: 56-59 Abstract Full Text Full Text PDF PubMed Scopus (12) Google Scholar