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Leukoencephalopathy with cerebral calcification and cysts

Published:October 24, 2016DOI:https://doi.org/10.1016/j.jns.2016.10.036
      The research of Livingston et al. published in 2014 [
      • Livingston J.H.
      • Mayer J.
      • Jenkinson E.
      • et al.
      Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
      ] delineated the clinical, neuroimaging features of 15 patients with LCC. More importantly, the CTC1 mutation of their patients was absent. They also emphasized that LCC is distinct from Coats Plus syndrome by absent mutation of CTC1. Therefore, their research is significant for recognizing the essential differences between LCC and Coats Plus not only in clinical manifestations but also in genetics. In August 2016, Jenkinson et al. identified the mutations in SNORD118, encoding the box C/D snoRNA U8, in 40 LCC patients of their cohort [
      • Jenkinson E.M.
      • Rodero M.P.
      • Kasher P.R.
      • et al.
      Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
      ]. So their findings are important to diagnose LCC. As we mentioned in our review, the clinical manifestations of LCC are varied and unspecific, so brain biopsy was performed in most cases for diagnosis [
      • Wang M.
      • Zhang M.
      • Wu L.
      • et al.
      Leukoencephalopathy with cerebral calcification and cysts: cases report and literature review.
      ]. But brain biopsy is an invasive method, and may result in more harm than benefit. From our opinions, the findings of Jenkinson et al. in 2016 undoubtedly provide a noninvasive and specific technique for LCC diagnosis.

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      References

        • Livingston J.H.
        • Mayer J.
        • Jenkinson E.
        • et al.
        Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
        Neuropediatrics. 2014; 45: 175-182
        • Jenkinson E.M.
        • Rodero M.P.
        • Kasher P.R.
        • et al.
        Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
        Nat. Genet. 2016; 48: 1185-1192
        • Wang M.
        • Zhang M.
        • Wu L.
        • et al.
        Leukoencephalopathy with cerebral calcification and cysts: cases report and literature review.
        J. Neurol. Sci. 2016; 370: 173-179