The research of Livingston et al. published in 2014 [
] 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 [
- 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
]. 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 [
- 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
]. 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.
- 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
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- Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.Neuropediatrics. 2014; 45: 175-182
- Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Nat. Genet. 2016; 48: 1185-1192
- Leukoencephalopathy with cerebral calcification and cysts: cases report and literature review.J. Neurol. Sci. 2016; 370: 173-179
Published online: October 24, 2016
Accepted: October 22, 2016
Received: October 19, 2016
© 2016 Elsevier B.V. All rights reserved.