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

Eliseo Picchi, Valentina Ferrazzoli, Giulia Pizzicannella, Noemi Pucci, Francesca Pitocchi, Fabrizio Valente, Silvia Minosse, Francesca Izzi, Tommaso Schirinzi, Chiara Bonomi, Chiara Aiello, Roberto Floris, Francesco Garaci, Francesca Di Giuliano

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)4471-4487
Number of pages17
JournalNeurological Sciences
Issue number11
Publication statusPublished - Nov 2021


  • Brain calcifications
  • Brain cysts
  • Leukoencephalopathy
  • MRI
  • Neuroimaging

ASJC Scopus subject areas

  • Dermatology
  • Clinical Neurology
  • Psychiatry and Mental health


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