Brain imaging findings in CLCN2-related leukoencephalopathy.

Vasco Sousa Abreu, João Tarrio, Eduarda Pinto, Sónia Figueiroa, José E Alves

Pediatric radiology 2023 May

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CLCN2-related leukoencephalopathy is a rare autosomal-recessive disease caused by a loss-of-function mutation in the ClC-2 chloride channel, which is fundamental in ion and water brain homeostasis. With only 31 cases published in the literature, its precise pathophysiology is uncertain, clinical manifestations are nonspecific and little is known in terms of prognosis. Neuroimaging plays a fundamental role in the identification of CLCN2-related leukoencephalopathy, which has a typical magnetic resonance imaging pattern that, when recognized, should promote proper genetic study for diagnostic confirmation. We report a paediatric clinical case of CLCN2-related leukoencephalopathy with genetically verified c.1709G > A p(Trp570*) mutation, highlighting typical neuroimaging findings and the importance of imaging in the diagnostic approach. © 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Citation

Vasco Sousa Abreu, João Tarrio, Eduarda Pinto, Sónia Figueiroa, José E Alves. Brain imaging findings in CLCN2-related leukoencephalopathy. Pediatric radiology. 2023 May;53(5):1027-1032