Infantile bilateral striatal necrosis

Infantile bilateral striatal necrosis (IBSN), also known as familial bilateral striatal necrosis of infancy, is a rare neurodegenerative disorder characterized by symmetric degeneration (necrosis) of the striatum — the caudate nucleus and putamen — which are key structures in the basal ganglia of the brain. This condition primarily affects the central nervous system and manifests in infancy or early childhood with progressive movement abnormalities. The striatum plays a critical role in coordinating voluntary movement, and its destruction leads to significant neurological impairment. Clinical features typically include progressive dystonia (involuntary muscle contractions causing abnormal postures), choreoathetosis (irregular writhing and jerking movements), spasticity, developmental regression or delay, and dysphagia (difficulty swallowing). Affected children may also experience rigidity, failure to thrive, and progressive loss of previously acquired motor and cognitive milestones. Brain MRI characteristically reveals bilateral symmetric lesions in the caudate nuclei and putamina, often with signal abnormalities consistent with necrosis. Some cases may also show involvement of other basal ganglia structures. Infantile bilateral striatal necrosis is genetically heterogeneous. Some forms have been associated with mutations in mitochondrial DNA (particularly in the MT-ATP6 gene) or nuclear genes affecting mitochondrial function, including NUP62. Both autosomal recessive and mitochondrial inheritance patterns have been described. There is currently no curative treatment for IBSN. Management is supportive and symptomatic, focusing on physical therapy, management of dystonia and spasticity with medications such as baclofen or benzodiazepines, nutritional support, and multidisciplinary rehabilitation. Prognosis varies but is generally poor, with many affected individuals experiencing severe disability.

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