Leukoencephalopathy, cerebral calcifications, and cysts (LCC)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Leukoencephalopathy, cerebral calcifications, and cysts (LCC). This is caused by mutations in the SNORD118 gene on chromosome 17.

Genetics

  • This is caused by mutations in the SNORD118 gene on chromosome 17
  • The transmission is autosomal recessive

Pathology

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Onset features

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Clinical features

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Differential diagnosis

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Brain imaging: features

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Treatment of cysts

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Treatment of hydrocephalus

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Other treatments

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Synonym

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References

  1. Wang Y, Cheng G, Dong C, Zhang J, Meng Y. Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report. J Med Case Rep 2013; 7:151.
  2. Bertotti MM, Linhares MN, Ferreira R, et al. Leukoencephalopathy, cerebral calcifications, and cysts: entity that can mimic a neoplasm. Arq Neuropsiquiatr 2011; 69:717-722.
  3. Iwama K, Mizuguchi T, Takanashi JI, et al. Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Clin Genet 2017; 92:180-187.
  4. Jenkinson EM, Rodero MP, Kasher PR, et al. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet 2016; 48:1185-1192. 
  5. Livingston JH, Crow YJ. Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118. J Neurol Sci 2017; 372:443. 
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