Leukoencephalopathy with cerebral calcifications and cysts, also known as Labrune syndrome and Coats plus syndrome, consists of cerebral microangiopathies characterized by angiomatous-like blood vessels with gliosis and Rosenthal fibre deposition [1,2]. Leukoencephalopathy with cerebral calcifications and cysts and Coats plus syndrome were originally considered to be the same clinical entity, termed cerebroretinal microangiopathy with calcifications and cysts. However, the finding of mutations in the CTC1 gene (CTS telomere maintenance complex component 1) in patients with Coats plus syndrome and SNORD118 mutations associated with Labrune syndrome suggested that these diseases are genetically distinct [2,3]. SNORD118 encodes for nucleolar RNA (snoRNA), box C/D U8, a vertebrate-specific factor critical for maturation of the 5.8S and 28S ribosomal RNAs [3]. A 23-year-old man was referred to us for severe bilateral pyramidal syndrome and left-arm dystonic posture. At 2 months of age, he experienced (a) (b)
[1]
A. Takata,et al.
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts
,
2017,
Clinical Genetics.
[2]
Shengyuan Yu,et al.
Leukoencephalopathy with calcifications and cysts
,
2017,
Medicine.
[3]
L. Lagae,et al.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
,
2016,
Nature Genetics.
[4]
Jonathan E. Dickerson,et al.
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
,
2012,
Nature Genetics.
[5]
C. Lacroix,et al.
Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts
,
1996,
Neurology.