Labrune syndrome (LS) is a rare condition that consists of a triad of leukoencephalopathy, cerebral calcifications and cysts.
LS is an extremely rare condition, with no more than 10 cases reported in literature 2. The onset occurs from early infancy to adolescence; few cases have been also reported in adults.
LS can present with slowing of cognitive performance, convulsive seizures, and a combination of extrapyramidal, cerebellar, and pyramidal features 1.
LS is thought to be a diffuse cerebral microangiopathy resulting in microcystic, followed by macrocystic, parenchymal degeneration 1.
CT demonstrates progressive calcifications in the basal and cerebellar nuclei as well as the subcortical white matter.
MRI shows diffuse abnormal signals of the white matter on T2/FLAIR sequences, with relatively sparing the U-fibers and corpus callosum 3. An important feature is the development of parenchymal cysts in the posterior fossa as well supratentorially. Ring enhancement of the cyst wall that reflects disruption of the blood- brain barrier can be seen 1.
MR spectroscopy of the cysts may demonstrate lactate peak and no evidence of the normal metabolites of the brain 3.
Treatment and prognosis
Disease progression is variable in the cases reported in the literature.
On imaging consider:
- 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 (5): 1297-301. Pubmed citation
- 2. Gulati A, Singh P, Ramanathan S et-al. A case of leukoencephalopathy, cerebral calcifications and cysts. Ann Indian Acad Neurol. 2011;14 (4): 310-2. doi:10.4103/0972-2327.91964 - Free text at pubmed - Pubmed citation
- 3. Sener U, Zorlu Y, Men S et-al. Leukoencephalopathy, cerebral calcifications, and cysts. AJNR Am J Neuroradiol. 2006;27 (1): 200-3. AJNR Am J Neuroradiol (full text) - Pubmed citation