Leukoencephalopathy with calcifications and cysts
Leukoencephalopathy with calcifications and cysts, also known as Labrune syndrome, is a rare condition that consists of a triad of leukoencephalopathy, cerebral calcifications and edematous cysts.
Leukoencephalopathy with calcifications and cysts is an extremely rare condition, with only a small number of cases reported in the literature 2,5. Clinical onset occurs from early infancy to late adulthood, with most cases being diagnosed in children to young adults. A modest predilection for females appears to be present (F:M 3:2) 5.
Leukoencephalopathy with calcifications and cysts can present with a variety of symptoms depending on cyst location and degree of intracranial hypertension. Symptoms include headaches, slowing of cognitive performance, seizures, visual disturbance and a combination of extrapyramidal, cerebellar, and pyramidal features 1,5.
The underlying pathophysiology is thought to be a diffuse cerebral microangiopathy resulting in initially microcystic, followed by macrocystic, parenchymal degeneration 1.
Histological features include tumor-like vascular hyperplasia, calcification, Renshaw cell proliferation, Rosenthal fibers and glial proliferation 5. A variety of other histological features are also encountered including demyelination, necrosis, iron deposition and hemorrhage 5,6.
Leukoencephalopathy with calcifications and cysts has been associated with mutations in the SNORD118 gene 4.
CT is the modality of choice for demonstrating calcifications, where progressive calcifications in the basal ganglia and cerebellar nuclei, as well as the subcortical white matter, are invariably seen 5.
MRI is the modality of choice for demonstrating the leukoencephalopathy and cysts 3,5.
- supratentorial white matter: centrum semiovale most common
- basal ganglia
- T1: hypointense, but brighter than CSF 3
- T2: hyperintense, but brighter than CSF, with FLAIR suppression evident - hyperintensity if presumably due to the absence of flow-induced signal loss 3
- DWI: may show increased diffusion signal
T1 C+ (Gd)
- ring enhancement of the cyst wall may be evident
- probably reflecting disruption of the blood-brain barrier 1,3,5
- T1: often hypointense, but can be variable 3
- T2/FLAIR: hypointense 3
- SWI: hypointense with blooming artefact 3
MR spectroscopy of the cysts may demonstrate a 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. To date, no specific treatment is available although medical management of epilepsy, edema and raised intracranial pressure is often required 5. Surgical pressure management is also sometimes needed 5.
History and etymology
It was first described by Philippe Labrune (fl. 2017), a French pediatric neurologist, and his colleagues in 1996 1.
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
- 4. Jenkinson EM, Rodero MP, Kasher PR, et al. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. (2016) Nature genetics. 48 (10): 1185-92. doi:10.1038/ng.3661 - Pubmed
- 5. Yubao Ma, Xingwen Zhang, Chen Cheng, Quangang Xu, Hai Di, Jiao Zhao, Dehui Huang, Shengyuan Yu. Leukoencephalopathy with calcifications and cysts: A case report. (2017) Medicine. 96 (29): e7597. doi:10.1097/MD.0000000000007597 - Pubmed
- 6. C. Stephani, S. Pfeifenbring, A. Mohr, C. Stadelmann. Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature. (2016) BMC Neurology. 16 (1): 19. doi:10.1186/s12883-016-0543-1 - Pubmed
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