Neurol Case Rep | Volume 2, Issue 2 | Case Report | Open Access

Intrathecal Administration of Nusinersen in Patients with SMA1: Too Little is Known

Raffaele Falsaperla1*, Anette Wenzel1 , Giuseppe Raudino2 , Maria Sframeli3 , Caterina Gagliano4 , Adolfo Mazzeo5 , Riccardo Lubrano5 and Carla Moscheo1

1Department of Pediatric Emergency, University Hospital "Policlinico-Vittorio Emanuele", Italy 2Department of Neurosurgery, "G Rodolico" University Hospital, Italy 3Department of Neurology, Nemo Clinical Center, Italy 4Eye Clinics, University of Catania, Hospital Santa Marta, Italy 5Department of Pediatrics, Sapienza University of Rome, Italy

*Correspondance to: Raffaele Falsaperla 

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Spinal Muscular Atrophy (SMA) is a severe disease for which no curative treatment has been found. There are studies evaluating the use of nusinersen in patients affected by SMA to improve motor function and prolong their survival. We present a rare case of triventricular hydrocephalus occurred in a child affected by SMA type I, undergoing nusinersen treatment administered intrathecally. In contrast to the different studies that have evaluated the safety of nusinersen and have not reported significant adverse events, we support the hypothesis that such treatment may have severe adverse events. This seems to be in agreement with what published by the Italian Drug Agency which reported the occurrence of communicating hydrocephalus in patients with SMA treated with nusinersen. Further studies are necessary to verify the safety of Nusinersen in patients who already have such a complex and severe disease as patients with SMA type I.


Spinal Muscular Atrophy; Nusinersen; Therapy; Hydrocephalus; Pediatrics; Neurology


Falsaperla R, Wenzel A, Raudino G, Sframeli M, Gagliano C, Mazzeo A, et al. Intrathecal Administration of Nusinersen in Patients with SMA1: Too Little is Known. Neurol Case Rep. 2019;2(2):1012.

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