Intrathecal administration of nusinersen for spinal muscular atrophy: report of three cases with severe spinal deformity.
Intrathecal administration
Nusinersen
Severe scoliosis
Spinal muscular atrophy
Journal
JA clinical reports
ISSN: 2363-9024
Titre abrégé: JA Clin Rep
Pays: Germany
ID NLM: 101682121
Informations de publication
Date de publication:
20 Apr 2020
20 Apr 2020
Historique:
received:
17
03
2020
accepted:
14
04
2020
entrez:
22
4
2020
pubmed:
22
4
2020
medline:
22
4
2020
Statut:
epublish
Résumé
Spinal muscular atrophy (SMA) is a genetic disease characterized by degeneration of the spinal cord, resulting in progressive muscle atrophy. Recently, nusinersen has been approved for treating SMA, which should be administered intrathecally. Patient 1 was a 36-year-old woman with SMA type 2. Patients 2 and 3 were 10- and 17-year-old girls with SMA type 1. In patients 1 and 2, the needle was inserted into the spinal column, but outflow of cerebrospinal fluid was unable to be confirmed. CT revealed that the dural sac terminated at the L5 level in patients 1 and 3 and at the L5/S1 level in patient 2. Patients with SMA often present with high-grade scoliosis, making intrathecal administration difficult. In addition, the dural sac may terminate at a level higher than normal. To ensure intrathecal administration, the level of dural sac termination must be confirmed by CT before puncture.
Sections du résumé
BACKGROUND
BACKGROUND
Spinal muscular atrophy (SMA) is a genetic disease characterized by degeneration of the spinal cord, resulting in progressive muscle atrophy. Recently, nusinersen has been approved for treating SMA, which should be administered intrathecally.
CASE PRESENTATION
METHODS
Patient 1 was a 36-year-old woman with SMA type 2. Patients 2 and 3 were 10- and 17-year-old girls with SMA type 1. In patients 1 and 2, the needle was inserted into the spinal column, but outflow of cerebrospinal fluid was unable to be confirmed. CT revealed that the dural sac terminated at the L5 level in patients 1 and 3 and at the L5/S1 level in patient 2.
CONCLUSIONS
CONCLUSIONS
Patients with SMA often present with high-grade scoliosis, making intrathecal administration difficult. In addition, the dural sac may terminate at a level higher than normal. To ensure intrathecal administration, the level of dural sac termination must be confirmed by CT before puncture.
Identifiants
pubmed: 32314319
doi: 10.1186/s40981-020-00334-7
pii: 10.1186/s40981-020-00334-7
pmc: PMC7171013
doi:
Types de publication
Journal Article
Langues
eng
Pagination
28Références
Acta Radiol. 1991 May;32(3):214-9
pubmed: 1829618
Neurol Clin. 2015 Nov;33(4):831-46
pubmed: 26515624
Pediatr Radiol. 2018 Nov;48(12):1797-1805
pubmed: 30022258
Eur J Hum Genet. 2004 Dec;12(12):1015-23
pubmed: 15470363
Pediatr Radiol. 2018 Mar;48(3):392-397
pubmed: 29130140
Anaesthesia. 2010 Jan;65(1):23-6
pubmed: 19922508
Lancet. 2008 Jun 21;371(9630):2120-33
pubmed: 18572081
J Child Neurol. 2007 Aug;22(8):1027-49
pubmed: 17761659
Nat Biotechnol. 2017 Mar;35(3):249-263
pubmed: 28244991
Pediatr Neurosurg. 1999 Apr;30(4):176-9
pubmed: 10420125
Pediatr Radiol. 2019 Jan;49(1):136-140
pubmed: 30167764
Can J Anaesth. 2005 Dec;52(10):1104-5
pubmed: 16326686