RNAse T2-deficient leukoencephalopathy
Alternate names
CLWM; Leukoencephalopathy, cystic, without megalencephaly; Cystic leukoencephalopathy without megalencephaly
Definition
Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.
NIH genetic and rare disease info
RNAse T2-deficient leukoencephalopathy is a rare disease.
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