Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2021 May;37(5):1765-1770.
doi: 10.1007/s00381-020-04861-7. Epub 2020 Aug 12.

Surgical considerations in Labrune syndrome

Andrew Kobets  1 , David Oriko  2 , Mari Groves  3 , Shenandoah Robinson  3 , Alan Cohen  3
Affiliations
Review

Surgical considerations in Labrune syndrome

Andrew Kobets et al. Childs Nerv Syst. 2021 May.

Abstract

Purpose: Labrune syndrome (LS) is a rare white matter disease characterized by leukoencephalopathy with intracranial calcification and cysts (LCC). While the intracranial cyst characteristics of LS are for the most part stable, some may require surgical intervention when they develop associated hemorrhage and/or mass effect. To date, no review of the surgical outcomes of cyst decompression in LS has been performed.

Case presentation: We report the case of a 16-year-old girl with LS who presented with progressive right hemiparesis from an enlarging hemorrhagic left thalamic cyst. The patient underwent frameless stereotactic cyst aspiration and Ommaya reservoir placement and her hemiparesis subsequently improved. Serial monitoring demonstrated stable decompression of the cyst.

Conclusions: The pathophysiology of LS is thought to be diffuse cerebral microangiopathy and it is thought that these microhemorrhages contribute to the formation of intracranial cysts as well as diffuse calcifications. Indications for surgical intervention in LS are not well established and the heterogeneity of lesions compels them to be managed on a case-by-case basis. Based on our literature review, surgery is the standard treatment of choice for patients with progressive symptoms and growing lesions on imaging studies, with outcomes favoring less-invasive stereotactic approaches with contingencies of reservoir placement when cysts recur.

Keywords: Calcification; Cysts; Leukoencephalopathy; Stereotactic aspiration.

PubMed Disclaimer

References

    1. 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 - DOI
    1. Armstrong MJ, Hacein-Bey L, Brown H (2009) Cerebroretinal microangiopathy with calcifications and cysts: demonstration of radiological progression. J Comput Assist Tomogr 33:5712 - DOI
    1. Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Tavasoli AR (2020) An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. Expert Rev Neurother 20(1):65–84 - DOI
    1. Berry-Candelario J, Kasper E, Eskandar E, Chen CC (2011) Neurosurgical management of leukoencephalopathy, cerebral calcifications, and cysts: a case report and review of literature. Surg Neurol Int 2:160 - DOI
    1. Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N et al (2008) Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A 146A:182–190 - DOI

Substances

LinkOut - more resources