Progressive cavitating leukoencephalopathy
ORPHA:139447· ICD-10 E75.2
Definition
A rare leukodystrophy characterized by acute episodes of infancy/early childhood-onset neurological deficit (including ataxia, dysarthria and seizures) with irritability and opisthotonus followed either by steady deterioration or by alternating periods of rapid progression and prolonged periods of stability.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy