NEDESBA is a multi-systemic disorder with a spectrum of severity.
Neurological dysfunction, cognitive and behavioural problems include:
• Infantile-onset severe progressive encephalopathy.
• Cerebral atrophy with predominant involvement of subcortical white matter and ventricular enlargement, often in association with basal ganglia, cerebellar, and brainstem atrophy.
• Thin corpus callosum evident in most individuals.
• Acquired severe microcephaly thought to be due to white matter loss.
• Seizures are experienced by approximately 80% of individuals, generally commencing by 6 months’ of age, and are highly variable in duration and type. Some individuals respond to anti-epileptic medications.
• Profound cognitive decline.
• In the first few months of life some children attain developmental milestones, but these are generally lost with disease progression.
Other common or reported features include:
• Progressive spastic tetraplegia
• Hyperreflexia
• Regression
• Visual impairment
• Facial dysmorphism
• Muscle wasting / episodic rhabdomyolysis (increased plasma lactate, creatine phosphokinase, and transaminases)
• Dyskinesia
• Premature death
TRAPPC4