Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (also known as BPAN or Beta-propeller protein-associated neurodegeneration, and historically as SENDA syndrome — Static Encephalopathy of childhood with NeuroDegeneration in Adulthood) is a rare neurogenetic disorder caused by mutations in the WDR45 gene, which encodes a protein involved in autophagy. It belongs to the group of neurodegeneration with brain iron accumulation (NBIA) disorders. The condition primarily affects the central nervous system, with iron progressively accumulating in the basal ganglia (particularly the substantia nigra and globus pallidus). In early childhood, affected individuals typically present with infantile spasms (epileptic spasms), global developmental delay, and intellectual disability. Seizures may take various forms and can be difficult to control. Psychomotor development is significantly impaired, and children often have limited speech and motor abilities. Brain imaging may show progressive cerebral atrophy. During adolescence or early adulthood, patients characteristically experience a relatively sudden onset of progressive dystonia and parkinsonism, reflecting the neurodegenerative component of the disease. Additional features may include spasticity, eye movement abnormalities, and behavioral disturbances. There is currently no cure or disease-modifying treatment for this condition. Management is supportive and symptomatic, including antiepileptic medications for seizure control, physical and occupational therapy, and medications to manage dystonia and parkinsonism (though response to levodopa is often limited and transient). Iron chelation therapy has been explored but has not demonstrated clear clinical benefit. Ongoing research into autophagy-related pathways may offer future therapeutic targets.

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