Megalencephalic leukoencephalopathy with subcortical cysts (MLC)

Evidence-based neurology checklist on megalencephalic leukoencephalopathy with subcortical cysts (mlc): Genetic mutations MLC1: this is autosomal recessive MLC2A: this is autosomal recessive MLC2B: this is autosomal dominant Pathogenesis Clinical features Differential diagnosis:…

Genetic mutations

  • MLC1: this is autosomal recessive
  • MLC2A: this is autosomal recessive
  • MLC2B: this is autosomal dominant

Pathogenesis

Clinical features

Differential diagnosis: leukoencephalopathies with macrocephaly

Magnetic resonance imaging (MRI) brain: features

Acronym

Synonym

References

  1. van der Knaap MS, Boor I, Estévez R. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. Lancet Neurol 2012; 11:973-985.
  2. Abdel-Salam GM, Abdel-Hamid MS, Ismail SI, et al. Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect. Metab Brain Dis 2016; 31:1171-1179. 
  3. Mahmoud IG, Mahmoud M, Refaat M, et al. Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients. Pediatr Neurol 2014; 50:140-148.
  4. Kariminejad A, Rajaee A, Ashrafi MR, et al. Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. Eur J Med Genet 2015; 58:71-74.
  5. Hamilton EMC, Tekturk P, Cialdella F, et al; MLC Research Group. Megalencephalic leukoencephalopathy with subcortical cysts: characterization of disease variants. Neurology 2018; 90:e1395-e1403.
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