Main clinical features of PEBEL1
Children with PEBEL1 are generally born healthy.
PEBEL1 is commonly triggered by illness, fever, upper respiratory tract infection, other infections or trauma/ injury. Adult-onset cases have been triggered by alcohol or cannabinoid consumption, and in the related disease, PEBEL2, by head injury.
Children will commonly have some or all of these clinical presentations:
• Lack of muscle co-ordination (ataxia)
• Neurological deterioration or decline, progressing rapidly.
• Eye problems, visual disturbances.
• Low muscle tone with floppiness (hypotonia), poor head control, reduction in movement control, tremor, shallow breathing, loss of speech and feeding are common symptoms
• Skin blisters or burn-like rashes, particularly in areas of high movement or friction such as arm folds, neck, buttocks, fingers.
• Seizures or fits
• Muscle weakness
• Numbness or pain (neuropathy)
• Behavioural changes including confusion, psychosis and lack of interest.
The majority of cases are fatal.
NAXE