Research & Literature

Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.

Bisserbe A, Tertian G, Buffet C, et al.

Revue neurologique 2015; (171(5)):445-9.

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.

Netravathi M, Kumari R, Kapoor S, et al.

BMC medical genetics 2015; (16()):5 doi:10.1186/s12881-015-0151-8.

Leukoencephalopathy with cerebral calcifications and cysts: clinical and pathological features in two adults.

Liu X, Zheng X, Sui Q, et al.

Acta neurologica Belgica 2016; (116(1)):47-52 doi:10.1007/s13760-015-0501-5.

Adult-Onset Leukoencephalopathy with Calcifications and Cysts: Focusing on Hemorrhagic Propensity and Cysts Development.

Li Z, Han K, Yao W, et al.

World neurosurgery 2016; (85()):366.e9-13.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, et al.

Nature genetics 2016; (48(10)):1185-92 doi:10.1038/ng.3661.

Leukoencephalopathy with cerebral calcification and cysts: Cases report and literature review.

Wang M, Zhang M, Wu L, et al.

Journal of the neurological sciences 2016; (370()):173-179 doi:10.1016/j.jns.2016.09.048.

Leukoencephalopathy, cerebral calcifications, and cysts: A clinical case involving a long-term follow-up and literature review.

Tamura R, Ohira T, Emoto K, et al.

Journal of the neurological sciences 2017; (373()):60-65 doi:10.1016/j.jns.2016.12.014.

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

Iwama K, Mizuguchi T, Takanashi JI, et al.

Clinical genetics 2017; (92(2)):180-187 doi:10.1111/cge.12991.

Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab.

Fay AJ, King AA, Shimony JS, et al.

Pediatric neurology 2017; (71()):56-59 doi:10.1016/j.pediatrneurol.2017.03.008.

Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review.

Ayrignac X, Nicolas G, Carra-Dallière C, et al.

JAMA neurology 2017; (74(8)):1000-1008 doi:10.1001/jamaneurol.2017.1062.

Leukoencephalopathy with calcifications and cysts: A case report.

Ma Y, Zhang X, Cheng C, et al.

Medicine 2017; (96(29)):e7597 doi:10.1097/MD.0000000000007597.

A 55-year-old female with leukoencephalopathy with cerebral calcifications and cysts: Case report and radiopathologic description.

Novo J, Lin D, Shanks M, et al.

Pathology, research and practice 2017; (213(11)):1440-1444 doi:10.1016/j.prp.2017.07.007.

Longitudinal clinical and neuro-radiological findings in a patient with leukoencephalopathy with brain calcifications and cysts (Labrune syndrome).

Iwasaki Y, Hoshino KI, Mori K, et al.

eNeurologicalSci 2017; (8()):28-30 doi:10.1016/j.ensci.2017.07.003.

A brother and sister with intellectual disability and characteristic neuroimaging findings.

Hermens M, van der Knaap MS, Kamsteeg EJ, Willemsen MA

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018; (22(5)):866-869 doi:10.1016/j.ejpn.2018.06.005.

[Clinical features and diagnosis of childhood leukoencephalopathy with cerebral calcifications and cysts in four cases].

Jin H, Wu HS, Ding CH, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(7)):539-544 doi:10.3760/cma.j.issn.0578-1310.2018.07.013.

Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus.

Shtaya A, Elmslie F, Crow Y, Hettige S

World neurosurgery 2019; (125()):271-272 doi:10.1016/j.wneu.2019.02.008.

Qualitative study: patients' and parents' views on brain tumour MRIs.

Tyldesley-Marshall N, Greenfield S, Neilson S, et al.

Archives of disease in childhood 2020; (105(2)):166-172 doi:10.1136/archdischild-2019-317306.

Adult-onset leukoencephalopathy, cerebral calcifications, and cysts: An 8-year neuroimaging follow-up of disease progression and histopathological correlation.

Chiang Y, Wang HJ, Chen CY

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019; (69()):276-279 doi:10.1016/j.jocn.2019.08.006.

Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.

Osman O, Labrune P, Reiner P, et al.

Revue neurologique 2020; (176(3)):170-179 doi:10.1016/j.neurol.2019.06.006.

Bevacizumab (Avastin®) in cancer treatment: A review of 15 years of clinical experience and future outlook.

Garcia J, Hurwitz HI, Sandler AB, et al.

Cancer treatment reviews 2020; (86()):102017 doi:10.1016/j.ctrv.2020.102017.

Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.

Badrock AP, Uggenti C, Wacheul L, et al.

American journal of human genetics 2020; (106(5)):694-706 doi:10.1016/j.ajhg.2020.04.003.

Surgical considerations in Labrune syndrome.

Kobets A, Oriko D, Groves M, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2021; (37(5)):1765-1770 doi:10.1007/s00381-020-04861-7.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Crow YJ, Marshall H, Rice GI, et al.

American journal of medical genetics. Part A 2021; (185(1)):15-25 doi:10.1002/ajmg.a.61907.

Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report.

Liang T, Zhang X, Xu Y, Zhao P

Ophthalmic genetics 2021; (42(1)):79-83 doi:10.1080/13816810.2020.1827443.

Optimized photochemistry enables efficient analysis of dynamic RNA structuromes and interactomes in genetic and infectious diseases.

Zhang M, Li K, Bai J, et al.

Nature communications 2021; (12(1)):2344 doi:10.1038/s41467-021-22552-y.

Scanxiety: a scoping review about scan-associated anxiety.

Bui KT, Liang R, Kiely BE, et al.

BMJ open 2021; (11(5)):e043215 doi:10.1136/bmjopen-2020-043215.

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

Acharya T, Firth HV, Dugar S, et al.

Molecular genetics & genomic medicine 2021; (9(12)):e1708 doi:10.1002/mgg3.1708.

Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to SNORD118 Variants.

Jin H, Ren X, Wu H, et al.

Frontiers in neurology 2021; (12()):585606 doi:10.3389/fneur.2021.585606.

Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.

Picchi E, Ferrazzoli V, Pizzicannella G, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021; (42(11)):4471-4487 doi:10.1007/s10072-021-05560-0.

Pediatric Intracranial Hypertension: A Spotlight on Imaging, the Idiopathic Intracranial Hypertension Treatment Trial, and COVID-19 Associated Cases.

Brun BN, Aylward SC

Seminars in pediatric neurology 2021; (40()):100922 doi:10.1016/j.spen.2021.100922.

Labrune Syndrome: A Very Rare Association of Leukoencephalopathy, Cerebral Calcifications, and Cysts.

Joshi AR, Kulkarni K, Shah AU

The Indian journal of radiology & imaging 2021; (31(3)):772-775 doi:10.1055/s-0041-1736398.

Labrune's Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review.

Sim CY, Mukari SAM, Ngu LH, et al.

Journal of movement disorders 2022; (15(2)):162-166 doi:10.14802/jmd.21120.

Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease.

Paff M, Samuel N, Alsafwani N, et al.

BMC neurology 2022; (22(1)):10 doi:10.1186/s12883-021-02531-y.

Coats plus syndrome: a rare cause of severe gastrointestinal tract bleeding in children - a case report.

Bozkurt S, Usta AM, Urganci N, et al.

BMC pediatrics 2022; (22(1)):119 doi:10.1186/s12887-022-03140-5.

Preparing patients according to their individual coping style improves patient experience of magnetic resonance imaging.

Madl JEM, Sturmbauer SC, Janka R, et al.

Journal of behavioral medicine 2022; (45(6)):841-854 doi:10.1007/s10865-022-00361-y.

Leukoencephalopathy with Calcifications and Cysts in a Child with Progressive Hemiparesis-A Case Report.

Shaikh M, Tiwari S, Yadav T, et al.

Journal of pediatric neurosciences 2021; (16(4)):277-280 doi:10.4103/jpn.JPN_113_20.

A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants.

Kodama K, Aoyama H, Murakami Y, et al.

Radiology case reports 2023; (18(3)):1217-1220 doi:10.1016/j.radcr.2022.11.033.

Leukoencephalopathy with calcifications and cysts: A case report with literature review.

Li J, Li C, Zhang Q, Qiu C

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023; (44(8)):2715-2729 doi:10.1007/s10072-023-06776-y.

Labrune Syndrome: A Rare Leukodystrophy.

Nair J, Swamiyappan SS, Bathala RT, et al.

Cureus 2023; (15(5)):e39287 doi:10.7759/cureus.39287.

Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.

Politano D, Catalano G, Pezzotti E, et al.

Genes 2023; (14(9)) doi:10.3390/genes14091817.

Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab.

Scaffei E, Buchignani B, Pasquariello R, et al.

Frontiers in neurology 2023; (14()):1245014 doi:10.3389/fneur.2023.1245014.

Scanxiety and quality of life around follow-up imaging in patients with unruptured intracranial aneurysms: a prospective cohort study.

Kamphuis MJ, van der Kamp LT, van Eijk RPA, et al.

European radiology 2024; (34(9)):6018-6025 doi:10.1007/s00330-024-10602-0.

Leukoencephalopathy with Cerebral Calcifications and Cysts: The Neurosurgical Perspective. Literature Review.

Novegno F, Iaquinandi A, Ruggiero F, Salvati M

World neurosurgery 2024; (190()):99-112 doi:10.1016/j.wneu.2024.06.133.

Impaired phase separation and nucleolar functions in hiPSC models of SNORD118-related ribosomopathies.

Zhang W, Zhang M, Ma L, et al.

iScience 2024; (27(8)):110430 doi:10.1016/j.isci.2024.110430.

Childhood-inherited white matter disorders with calcification.

Livingston JH

Handbook of clinical neurology 2024; (204()):95-109 doi:10.1016/B978-0-323-99209-1.00013-2.

A Review of the Clinical Presentation, Causes, and Diagnostic Evaluation of Increased Intracranial Pressure in the Emergency Department.

Olaru C, Langberg S, McCoin NS

The western journal of emergency medicine 2024; (25(6)):1003-1010 doi:10.5811/westjem.18500.

Ultra-Widefield Swept-Source OCTA Findings in Coats Plus Syndrome.

Chaaya C, Ploumi I, Pandiri S, et al.

Ophthalmic surgery, lasers & imaging retina 2025; (56(7)):437-441 doi:10.3928/23258160-20250417-02.

Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.

Grafstein J, Aoyama Y, Godfrey R, et al.

Rare (Amsterdam, Netherlands) 2025; (3()) doi:10.1016/j.rare.2025.100112.

Decompressive Hemicraniectomy for a Patient With Intraventricular Hemorrhage Due to a Ruptured Arteriovenous Fistula and Refractory Intracranial Hypertension.

Sawaya J, Elbadry R, Pillai P, Minasian T

Cureus 2025; (17(11)):e97952 doi:10.7759/cureus.97952.

Delayed Hydrocephalus Following Listeria monocytogenes Meningitis in an Immunocompetent Child.

Guzmán García D, Sánchez Salgado AA, Sánchez López JA, et al.

Cureus 2026; (18(3)):e104728 doi:10.7759/cureus.104728.

Biomarkers and Psychological Factors Associated with Distress in Children, Adolescents, and Young Adults Undergoing MRI Neuroimaging: A Systematic Review of Observational Studies with Clinical Recommendations.

Ceniza-Bordallo G, Del Pino AB, Soldic D, Torrado-Carvajal A

Healthcare (Basel, Switzerland) 2026; (14(9)) doi:10.3390/healthcare14091160.

Proteomic-guided targeted treatment of leukoencephalopathy with calcification and cysts.

Briel N, Köpp A, Meister HM, et al.

Brain : a journal of neurology 2026; doi:10.1093/brain/awag299.

The first reported case of Labrune syndrome in Vietnam with 4-year longitudinal follow-up: illustrative case.

Pham D, Ngo HM, Doan QD, et al.

Journal of neurosurgery. Case lessons 2026; (12(13)).

Addressing Scanxiety Throughout the Cancer Surveillance Journey: A Co-Design Study.

Vanpoecke H, De Pourcq K, Gemmel P, et al.

Healthcare (Basel, Switzerland) 2026; (14(20)) doi:10.3390/healthcare14203536.

Case Report: Leukoencephalopathy with calcifications and cysts caused by novel biallelic SNORD118 variants in a childhood-onset patient with long-term follow-up.

Tian D, Chen B, Li W, et al.

Frontiers in neuroscience 2026; (20()):1865322 doi:10.3389/fnins.2026.1865322.