Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).
Genetic Heterogeneity of PEBEL
See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34. [from OMIM]
- MedGen UID:
- 934642
- •Concept ID:
- C4310675
- •
- Disease or Syndrome