Brain Sciences (Nov 2020)

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome

  • Magdalena Machnikowska-Sokołowska,
  • Jacek Pilch,
  • Justyna Paprocka,
  • Małgorzata Rydzanicz,
  • Agnieszka Pollak,
  • Joanna Kosińska,
  • Piotr Gasperowicz,
  • Katarzyna Gruszczyńska,
  • Ewa Emich-Widera,
  • Rafał Płoski

DOI
https://doi.org/10.3390/brainsci10110869
Journal volume & issue
Vol. 10, no. 11
p. 869

Abstract

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Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and histopathological findings. Differential diagnosis included a wide spectrum of diseases. Finally, in 2016, genetic mutation in the SNORD118 gene was confirmed to cause Labrune syndrome. The authors describe a case of a teenage girl with progressive headaches, without developmental delay, presenting with calcifications and white matter abnormality in neuroimaging. Follow-up studies showed the progression of leukoencephalopathy and cyst formation. The first symptoms and initial imaging results posed diagnostic challenges. The final diagnosis was established based on genetic results. The authors discuss the possible therapy of LCC with Bevacizumab.

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