Spinal Muscular Atrophy is a progressive autosomal recessive motor neuron disease caused by the loss of the SMN1 gene. Nusinersen is an antisense oligonucleotide that produces an effect by increasing SMN protein production. Despite the studies that demonstrated improved motor function and milestones in infants and children after intrathecal nusinersen treatment, side effects were also reported.
In this paper, we report our experience with 16 years old boy with spinal muscular atrophy that experienced sagittal sinus thrombosis five days after the first dose of intrathecal nusinersen treatment.
The patient experienced severe headache, nausea, vomiting, epistaxis, and gradually increased neck stiffness. Magnetic Resonance Image showed thrombosis in the superior sagittal sinus and a pachymeningeal enhancement, venography showed filling defect. Enoxaparin was started. The nusinersen treatment was stopped.
The adverse effects of nusinersen are still a puzzle. Increased intracranial pressure clinical manifestations such as prolonged headache, nausea, vomiting after intrathecal nusinersen treatment should be taken seriously and the possibility of a sinus thrombosis should be kept in mind.
Spinal Muscular Atrophy, Nusinersen, Stroke.