PEBEL1 is a rare genetic multi-systemic disorder with a spectrum of severity. There does not appear to be a gender bias.
In the majority of cases children with PEBEL1 are born healthy and develop normally.
Prior to disease onset, some minor symptoms may include ataxia, hypotonia and psychosis.
Disease onset in most instances is triggered by a period of illness including
• fever
• upper respiratory tract infection
• viral illness
• stress
• in adult-onset cases, alcohol and tetrahydrocannabinol consumption were suspected to be a trigger.
As reported by Manor and colleagues (Manor, Calame et al. 2022) the main clinical features (% of cases) after disease onset include:
• Ataxia (80%)
• Cognitive regression (70%)
• Ocular abnormalities including nystagmus, strabismus, anisocoria, and visual disturbances (60%)
• Movement disorders including tremor, myoclonus, and hyperkinesia (50%)
• Hypotonia (50%)
• Dysarthria and/or dysphagia (50%)
• motor regression (45%).
Other clinical features after disease onset may include
• skin lesions resembling pellagra
• myopathy
• respiratory symptoms
• epilepsy
• spasticity
• behavioural changes including confusion, psychosis and apathy.
• encephalopathy
• Cerebral edema and atrophy
• leukoencephalopathy
The majority of cases are fatal.
NAXE