Skip to main content

Advertisement

SpringerLink
Log in

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

  • Review Article
  • Published:
Neurological Sciences Aims and scope Submit manuscript

Abstract

Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a neurological disorder characterized by the radiological triad of white matter abnormalities, intracranial calcifications and cystic lesions variable in size resulting from a diffuse cerebral microangiopathy. Typically, progressive focal neurological deficits and seizures are the first clinical manifestation, but the severity of symptoms can vary according to the size and location of the cystic lesions holding compressive effects on the surrounding brain tissue. The most common histopathological finding is diffuse microangiopathy, which might be associated to pathogenic mutations in SNORD118 gene causing Labrune syndrome. Similar neuroradiological appearances have been found in the Coats plus syndrome, a systemic disorder caused by a genetic diffuse microangiopathy that affects not only the brain but also the retina and multiple organs, with a more complex clinical picture that address the diagnosis; biallelic mutations in CTC1 gene, encoding the conserved telomere maintenance component 1 (CTC1), are responsible of this systemic disorder. The aim of this contribution is to review the existing literature focusing on the neuroimaging characteristics by reporting cases in which radiological findings were highly suggestive for LCC.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6

Similar content being viewed by others

Data availability

Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.

Code availability

Not applicable.

References

  1. Labrune P, Lacroix C, Goutières F et al (1996) Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. Neurology. 46:1297–1301. https://doi.org/10.1212/wnl.46.5.1297

    Article  CAS  PubMed  Google Scholar 

  2. Kleinschmidt-Demasters BK, Cummings TJ, Hulette CM et al (2009) Adult cases of leukoencephalopathy, cerebral calcifications, and cysts: expanding the spectrum of the disorder. J Neuropathol Exp Neurol 68:432–439. https://doi.org/10.1097/NEN.0b013e31819fd897

    Article  PubMed  Google Scholar 

  3. Tamura R, Ohira T, Emoto K, Fujiwara H, Horikoshi T, Yoshida K (2017) Leukoencephalopathy, cerebral calcifications, and cysts: a clinical case involving a long-term follow-up and literature review. J Neurol Sci 373:60–65

    Article  Google Scholar 

  4. Osman O, Labrune P, Reiner P, Sarov M, Nasser G, Riant F, Tournier-lasserve E, Chabriat H, Denier C (2020) Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review. Rev Neurol (Paris) 176:170–179. https://doi.org/10.1016/j.neurol.2019.06.006

    Article  CAS  Google Scholar 

  5. Hermens M, van der Knaap MS, Kamsteeg EJ, Willemsen MA (2018) A brother and sister with intellectual disability and characteristic neuroimaging findings. Eur J Paediatr Neurol 22:866–869. https://doi.org/10.1016/j.ejpn.2018.06.005

    Article  PubMed  Google Scholar 

  6. Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, de Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, van Esch H, van Mol CEG, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ (2016) Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet 48:1185–1192. https://doi.org/10.1038/ng.3661

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng ACH, Chiang D, Clifford DB, Cordelli DM, Burca A, Demic N, Desguerre I, de Waele L, di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Õunap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP (2021) Leukoencephalopathy with calcifications and cysts: genetic and phenotypic spectrum. Am J Med Genet Part A 185:15–25. https://doi.org/10.1002/ajmg.a.61907

    Article  CAS  PubMed  Google Scholar 

  8. Crow YJ, McMenamin J, Haenggeli CA, Hadley D, Tirupathi S, Treacy E, Zuberi S, Browne B, Tolmie J, Stephenson J (2004) Coats’ plus: a progressive familial syndrome of bilateral Coats’ disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Neuropediatrics. 35:10–19. https://doi.org/10.1055/s-2003-43552

    Article  CAS  PubMed  Google Scholar 

  9. Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GMH, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Õunap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JBP, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GCM, Rice GI, Crow YJ (2012) Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet 44:338–342. https://doi.org/10.1038/ng.1084

    Article  CAS  PubMed  Google Scholar 

  10. Livingston JH, Mayer J, Jenkinson E, Kasher P, Stivaros S, Berger A, Cordelli D, Ferreira P, Jefferson R, Kutschke G, Lundberg S, Ounap K, Prabhakar P, Soh C, Stewart H, Stone J, van der Knaap M, van Esch H, van Mol C, Wakeling E, Whitney A, Rice G, Crow Y (2014) Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. Neuropediatrics. 45:175–182. https://doi.org/10.1055/s-0033-1364180

    Article  PubMed  Google Scholar 

  11. Nagae-Poetscher LM, Bibat G, Philippart M, Rosemberg S, Fatemi A, Lacerda MTC, Costa MOR, Kok F, Costa Leite C, Horská A, Barker PB, Naidu S (2004) Leukoencephalopathy, cerebral calcifications, and cysts: new observations. Neurology. 62:1206–1209. https://doi.org/10.1212/01.WNL.0000119341.59445.CF

    Article  CAS  PubMed  Google Scholar 

  12. Brenner C, Del Negro MC, Borigato EMV, Miranda RV (2006) Leukoencephalopathy with cerebral calcifications and cysts. Neurology. 66:E32. https://doi.org/10.1212/01.wnl.0000204297.44936.27

    Article  PubMed  Google Scholar 

  13. Corboy JR, Gault J, Kleinschmidt-Demasters BK (2006) An adult case of leukoencephalopathy with intracranial calcifications and cysts. Neurology. 67:1890–1892. https://doi.org/10.1212/01.wnl.0000244470.06748.18

    Article  PubMed  Google Scholar 

  14. Sener U, Zorlu Y, Men S, et al. (2006) Leukoencephalopathy, cerebral calcifications, and cysts. Am J Neuroradiol 27:200–203

  15. Wargon I, Lacour MC, Adams D, Denier C (2008) A small deep infarct revealing leukoencephalopathy, calcifications and cysts in an adult patient [2]. J Neurol Neurosurg Psychiatry 79:224–225

    Article  CAS  Google Scholar 

  16. Marelli C, Savoiardo M, Fini N, Bartolomei I, Marliani AF, de Gonda F, Agostinis C, Albini-Riccioli L, Marucci G, Giaccone G, Chiapparini L, Salvi F, Pareyson D (2008) Late presentation of leucoencephalopathy with calcifications and cysts: report of two cases. J Neurol Neurosurg Psychiatry 79:1303–1304

    Article  CAS  Google Scholar 

  17. Daglioglu E, Ergungor F, Hatipoglu HG, Okay O, Dalgic A, Orhan G, Unal T (2009) Cerebral leukoencephalopathy with calcifications and cysts operated for signs of increased intracranial pressure: case report. Surg Neurol 72:177–181. https://doi.org/10.1016/j.surneu.2008.02.042

    Article  PubMed  Google Scholar 

  18. Kaffenberger T, Valko PO, Von Meyenburg J et al (2009) A case of late onset leukoencephalopathy with cerebral calcifications and cysts in a 59-year-old woman. Eur J Neurol 16:278–281. https://doi.org/10.1111/j.1468-1331.2008.02392.x

    Article  CAS  PubMed  Google Scholar 

  19. Ummer K, Salam KA, Noone ML et al (2010) Leukoencephalopathy with intracranial calcifications and cysts in an adult: case report and review of literature. Ann Indian Acad Neurol 13:299–301. https://doi.org/10.4103/0972-2327.74198

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Chen C, Kasper E, Berry-Candelario J, Eskandar E (2011) Neurosurgical management of leukoencephalopathy, cerebral calcifications, and cysts: a case report and review of literature. Surg Neurol Int 2:160. https://doi.org/10.4103/2152-7806.89867

    Article  PubMed  PubMed Central  Google Scholar 

  21. Bertotti MM, Linhares MN, Ferreira R, Santos DS, Athayde Jr AT, Mussi ACM, Moritz JW, Jung TS, Schroeder HK, Rodrigues IK (2011) Leukoencephalopathy, cerebral calcifications, and cysts: entity that can mimic a neoplasm. Arq Neuropsiquiatr 69:717–722. https://doi.org/10.1590/s0004-282x2011000500027

    Article  PubMed  Google Scholar 

  22. Coeytaux A, Lobrinus JA, Horvath J, Kurian M, Vargas MI (2011) Late onset of leucoencephalopathy with cerebral calcifications and cysts. J Neuroradiol 38:319–320

    Article  CAS  Google Scholar 

  23. Gulati A, Singh P, Ramanathan S, Khandelwal N (2011) A case of leukoencephalopathy, cerebral calcifications and cysts. Ann Indian Acad Neurol 14:310–312

    Article  Google Scholar 

  24. Labauge P, Berger E, Magnin E, Rumbach L, Mine M, Renard D (2012) A new form of leukoencephalopathy with calcifications and cysts with nonrecessive inheritance and absence of gadolinium enhancement. Eur Neurol 67:151–153

    Article  Google Scholar 

  25. Banks GP, Weiss SA, Pisapia D, Willey JZ (2013) A case of late-onset leukoencephalopathy, calcifications, and cysts presenting with intracerebral hemorrhage resembling a neoplasm. Cerebrovasc Dis 35:396–397

    Article  Google Scholar 

  26. Ooba H, Abe T, Hisamitsu Y, Fujiki M (2013) Repeated cyst formation in a patient with leukoencephalopathy, cerebral calcifications, and cysts: effectiveness of stereotactic aspiration with Ommaya reservoir placement - case report. J Neurosurg Pediatr 12:155–159. https://doi.org/10.3171/2013.5.PEDS1328

    Article  PubMed  Google Scholar 

  27. Wang Y, Cheng G, Dong C, Zhang J, Meng Y (2013) Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report. J Med Case Rep 7. https://doi.org/10.1186/1752-1947-7-151

  28. Ogles RL, Joshi CL, Miller DC, Litofsky NS, Travis MD (2014) Leukoencephalopathy, cerebral calcifications, and cysts in two sisters. Pediatr Neurol 51:576–579. https://doi.org/10.1016/j.pediatrneurol.2014.06.007

    Article  PubMed  Google Scholar 

  29. Karlinger K, Tárnoki ÁD, Tárnoki DL, Polvi A, Lehesjoki AE, Kelemen A, Szegedi L, Turányi E, Kamondi A, Szűcs A (2014) Leukoencephalopathy, cerebral calcifications and cysts: a family study. J Neurol 261:1911–1916. https://doi.org/10.1007/s00415-014-7393-9

    Article  PubMed  Google Scholar 

  30. Liu X, Zheng X, Sui Q, Xu W, Zee CS (2016) Leukoencephalopathy with cerebral calcifications and cysts: clinical and pathological features in two adults. Acta Neurol Belg 116:47–52. https://doi.org/10.1007/s13760-015-0501-5

    Article  PubMed  Google Scholar 

  31. Stephani C, Pfeifenbring S, Mohr A, Stadelmann C (2016) Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature. BMC Neurol 16:19. https://doi.org/10.1186/s12883-016-0543-1

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Li Z, Han K, Yao W, Wei W, Li Y, Lan X (2016) Adult-onset leukoencephalopathy with calcifications and cysts: focusing on hemorrhagic propensity and cysts development. World Neurosurg 85:366.e9–366.e13. https://doi.org/10.1016/j.wneu.2015.09.049

    Article  Google Scholar 

  33. Villar-Quiles RN, Gómez-Ruiz N, Jorquera-Moya M, Matías-Guiu J, Matias-Guiu JA (2017) Teaching neuro images: adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome). Neurology 88:e113–e114

    Article  Google Scholar 

  34. Novo J, Lin D, Shanks M, Kocak M, Arvanitis L (2017) A 55-year-old female with leukoencephalopathy with cerebral calcifications and cysts: case report and radiopathologic description. Pathol Res Pract 213:1440–1444. https://doi.org/10.1016/j.prp.2017.07.007

    Article  PubMed  Google Scholar 

  35. Ma Y, Zhang X, Cheng C, Xu Q, di H, Zhao J, Huang D, Yu S (2017) Leukoencephalopathy with calcifications and cysts. Medicine (Baltimore) 96:e7597. https://doi.org/10.1097/MD.0000000000007597

    Article  Google Scholar 

  36. Iwasaki Y, Hoshino K ichiro, Mori K, et al. (2017) Longitudinal clinical and neuro-radiological findings in a patient with leukoencephalopathy with brain calcifications and cysts (Labrune syndrome). eNeurologicalSci. 8:28–30. https://doi.org/10.1016/j.ensci.2017.07.003

    Article  PubMed  PubMed Central  Google Scholar 

  37. Pahuja L, Patras E, Sureshbabu S et al (2017) Labrune syndrome: a unique leukoencephalopathy. Ann Indian Acad Neurol 20:59–61. https://doi.org/10.4103/0972-2327.192386

  38. Taglia I, Di Donato I, De Stefano N et al (2018) Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations. Eur J Neurol 25:e86–e87

    Article  CAS  Google Scholar 

  39. Pessoa A (2018) Blood−brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations: would this be the mechanism for progressive worsening? Eur J Neurol 25:e88–e90

    Article  CAS  Google Scholar 

  40. Shtaya A, Elmslie F, Crow Y, Hettige S (2019) Leukoencephalopathy, intracranial calcifications, cysts, and SNORD118 mutation (Labrune Syndrome) with obstructive hydrocephalus. World Neurosurg 125:271–272. https://doi.org/10.1016/j.wneu.2019.02.008

    Article  PubMed  Google Scholar 

  41. Chiang Y, Wang HJ, Chen CY (2019) Adult-onset leukoencephalopathy, cerebral calcifications, and cysts: an 8-year neuroimaging follow-up of disease progression and histopathological correlation. J Clin Neurosci 69:276–279. https://doi.org/10.1016/j.jocn.2019.08.006

    Article  PubMed  Google Scholar 

  42. Bonomo G, Monfrini E, Borellini L, Bonomo R, Arienti F, Saetti MC, di Fonzo A, Locatelli M (2020) Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene. Eur J Neurol 27:2329–2332. https://doi.org/10.1111/ene.14313

    Article  CAS  PubMed  Google Scholar 

  43. Cullinane PW, Lynch SA, Marnane M (2020) Phenotypic variability in leukoencephalopathy with brain calcifications and cysts: case report of siblings from an Irish traveller family with a homozygous SNORD118 mutation. J Mol Neurosci 70:1354–1356. https://doi.org/10.1007/s12031-020-01550-7

    Article  CAS  PubMed  Google Scholar 

  44. Alper F, Polat G, Koçak MN, Kaya Z, Aydin MD (2020) A rare neurologic disease that mimics cranial hydatid cyst: leukoencephalopathy, cerebral calcifications, and cysts. J Craniofac Surg 31:e398–e399. https://doi.org/10.1097/SCS.0000000000006407

    Article  PubMed  Google Scholar 

  45. Wildman J, Baker MR, Price DA, Tiwari S, Kumar H, Rice GI, Crow YJ, Thomas RH (2020) Clinical reasoning: a 25-year-old woman with recurrent episodes of collapse and loss of consciousness. Neurology. 94:994–999. https://doi.org/10.1212/WNL.0000000000009533

    Article  PubMed  Google Scholar 

  46. Bitsch A, Bruhn H, Vougioukas V, et al. (1999) Inflammatory CNS demyelination: histopathologic correlation with in vivo quantitative proton MR spectroscopy. Am J Neuroradiol 20:1619–1627

  47. Cuzzocrea M, Florimonte L, Scola E, Benti R, Castellani M (2020) 18F-FDG PET/CT in labrune syndrome. Clin Nucl Med 45:e439–e440. https://doi.org/10.1097/RLU.0000000000003199

    Article  PubMed  Google Scholar 

  48. Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N (2017) Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Clin Genet 92:180–187. https://doi.org/10.1111/cge.12991

    Article  CAS  PubMed  Google Scholar 

  49. Armstrong MJ, Hacein-Bey L, Brown H (2009) Cerebroretinal microangiopathy with calcifications and cysts: demonstration of radiological progression. J Comput Assist Tomogr 33:571–572. https://doi.org/10.1097/RCT.0b013e31818c0957

    Article  PubMed  Google Scholar 

  50. Schweser F, Deistung A, Lehr BW, Reichenbach JR (2010) Differentiation between diamagnetic and paramagnetic cerebral lesions based on magnetic susceptibility mapping. Med Phys 37:5165–5178. https://doi.org/10.1118/1.3481505

    Article  PubMed  Google Scholar 

  51. Bartolini E, Bianchi A, Bartolomei I, Vella A, Sali L, Ciccarone A, Salvi F, Mascalchi M (2016) Diffuse brain hypoperfusion in advanced leukoencephalopathy with calcifications and cysts. J Stroke Cerebrovasc Dis 25:25–e113. https://doi.org/10.1016/j.jstrokecerebrovasdis.2016.04.030

    Article  Google Scholar 

  52. Brander A, Kataja A, Saastamoinen A, Ryymin P, Huhtala H, Öhman J, Soimakallio S, Dastidar P (2010) Diffusion tensor imaging of the brain in a healthy adult population: normative values and measurement reproducibility at 3 T and 1.5 T. Acta Radiol 51:800–807. https://doi.org/10.3109/02841851.2010.495351

    Article  PubMed  Google Scholar 

  53. Garaci F, Toschi N, Lanzafame S, Marfia GA, Marziali S, Meschini A, di Giuliano F, Simonetti G, Guerrisi M, Massa R, Floris R (2015) Brain MR diffusion tensor imaging in Kennedy’s disease. Neuroradiol J 28:126–132. https://doi.org/10.1177/1971400915581740

    Article  PubMed  PubMed Central  Google Scholar 

  54. Lynch DS, Wade C, De Paiva ARB et al (2019) Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era. J Neurol Neurosurg Psychiatry 90:543–554

    Article  Google Scholar 

  55. Caldemeyer KS, Mathews VP, Edwards-Brown MK, Smith RR (1997) Central nervous system cryptococcosis: parenchymal calcification and large gelatinous pseudocysts. Am J Neuroradiol 18:107–109

  56. Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE (2012) Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet 90:540–549. https://doi.org/10.1016/j.ajhg.2012.02.002

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  57. Briggs TA, Abdel-Salam GMH, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JBP, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ (2008) Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet Part A 146A:182–190. https://doi.org/10.1002/ajmg.a.32080

    Article  CAS  PubMed  Google Scholar 

  58. Di Donato I, Dotti MT, Federico A (2014) Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation. J Alzheimers Dis 42 Suppl 3:S27–35

  59. Kobets A, Oriko D, Groves M, Robinson S, Cohen A (2020) Surgical considerations in Labrune syndrome. Childs Nerv Syst 37:1765–1770. https://doi.org/10.1007/s00381-020-04861-7

    Article  PubMed  Google Scholar 

  60. Fay AJ, King AA, Shimony JS, Crow YJ, Brunstrom-Hernandez JE (2017) Treatment of leukoencephalopathy with calcifications and cysts with bevacizumab. Pediatr Neurol 71:56–59. https://doi.org/10.1016/j.pediatrneurol.2017.03.008

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Diagnostic Imaging Unit, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Viale Oxford 81, 00133, Rome, Italy

    Eliseo Picchi, Giulia Pizzicannella, Noemi Pucci, Francesca Pitocchi, Fabrizio Valente, Silvia Minosse & Roberto Floris

  2. Neuroradiology Unit, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Viale Oxford 81, 00133, Rome, Italy

    Valentina Ferrazzoli, Francesco Garaci & Francesca Di Giuliano

  3. Sleep Medicine Centre, Department of Systems Medicine, University of Rome Tor Vergata, Viale Oxford 81, 00133, Rome, Italy

    Francesca Izzi

  4. Neurology Unit, Department of Systems Medicine, University of Rome Tor Vergata, Viale oxford 81, 00133, Rome, Italy

    Tommaso Schirinzi

  5. Neurology Unit - Memory Clinic, Department of Systems Medicine, University of Rome Tor Vergata, Viale Oxford 81, 00133, Rome, Italy

    Chiara Bonomi

  6. Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children’s Research Hospital, IRCCS, Rome, Italy

    Chiara Aiello

  7. San Raffaele Hospital, via Gaetano di Biasio 1, 03043, Cassino, FR, Italy

    Francesco Garaci

Authors
  1. Eliseo Picchi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Valentina Ferrazzoli
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Giulia Pizzicannella
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Noemi Pucci
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Francesca Pitocchi
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Fabrizio Valente
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Silvia Minosse
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Francesca Izzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Tommaso Schirinzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Chiara Bonomi
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Chiara Aiello
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Roberto Floris
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Francesco Garaci
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Francesca Di Giuliano
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

All authors have sufficiently participated in this work to take public responsibility for its content.

Corresponding author

Correspondence to Valentina Ferrazzoli.

Ethics declarations

Ethics approval

Not applicable because this article is conducted on already available data.

Consent to participate

Informed consent to participate in the study was obtained from participants included in the study.

Consent for publication

The participants have consented to the submission of their case and data to the journal.

Conflict of interest

The authors declare no competing interests.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Picchi, ., Ferrazzoli, V., Pizzicannella, G. et al. Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature. Neurol Sci 42, 4471–4487 (2021). https://doi.org/10.1007/s10072-021-05560-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-021-05560-0

Keywords

Search

Navigation