German clinicians report the observation of a 21-year-old patient with type 2 spinal muscular atrophy who developed symptomatic intracranial hypertension after the twelfth intrathecal injection of nusinersen (Spinraza®):
- In addition to vomiting and headaches, the patient presented, very shortly after the injection, ocular signs (decreased visual acuity) confirmed by ophthalmological examination (bilateral papilledema),
- Magnetic resonance imaging of the brain revealed signs of intracranial hypertension without associated hydrocephalus, but also arachnoid cysts whose significance in this context remains debatable.
- Regular lumbar punctures and oral treatment with acetazolamide led to a return to normal over the following eight weeks.
In this case, it is highly probable that nusinersen is responsible for this very rare side effect.
