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Refractory infantile spasms

MedGen UID:
741186
•Concept ID:
C1827396
•
Disease or Syndrome
Synonym: Intractable infantile spasms
SNOMED CT: Refractory infantile spasms (422527005); Intractable infantile spasms (422527005)

Professional guidelines

PubMed

Treatment with High-Dose Prednisolone in Vigabatrin-Refractory Infantile Spasms.
Al-Shehhi W, Chau V, Boyd J, Snead C, Sharma R, Donner E, Go C, Jain P
Can J Neurol Sci 2022 Jul;49(4):532-539. Epub 2021 Jul 2 doi: 10.1017/cjn.2021.156. PMID: 34212837
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Bahi-Buisson N, Villeneuve N, Caietta E, Jacquette A, Maurey H, Matthijs G, Van Esch H, Delahaye A, Moncla A, Milh M, Zufferey F, Diebold B, Bienvenu T
Am J Med Genet A 2012 Jul;158A(7):1612-9. Epub 2012 Jun 7 doi: 10.1002/ajmg.a.35401. PMID: 22678952
Treatment of infantile spasms: medical or surgical?
Shields WD, Shewmon DA, Chugani HT, Peacock WJ
Epilepsia 1992;33 Suppl 4:S26-31. doi: 10.1111/j.1528-1157.1992.tb06224.x. PMID: 1330508

Recent clinical studies

Etiology

Felbamate for infantile spasms syndrome resistant to first-line treatments.
Dozières-Puyravel B, Nasser H, Bellavoine V, Ilea A, Delanoe C, Auvin S
Dev Med Child Neurol 2020 May;62(5):581-586. Epub 2019 Dec 18 doi: 10.1111/dmcn.14427. PMID: 31850517
Synthetic pharmaceutical grade cannabidiol for treatment of refractory infantile spasms: A multicenter phase-2 study.
Hussain SA, Dlugos DJ, Cilio MR, Parikh N, Oh A, Sankar R
Epilepsy Behav 2020 Jan;102:106826. Epub 2019 Dec 6 doi: 10.1016/j.yebeh.2019.106826. PMID: 31816477
Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome.
Akasaka N, Tohyama J, Ogawa A, Takachi T, Watanabe A, Asami K
Pediatr Neurol 2013 Nov;49(5):364-7. Epub 2013 Aug 2 doi: 10.1016/j.pediatrneurol.2013.05.014. PMID: 23916859
Newer GABAergic agents for pharmacotherapy of infantile spasms.
Reddy DS
Drugs Today (Barc) 2002 Oct;38(10):657-75. doi: 10.1358/dot.2002.38.10.820139. PMID: 12582452
Nitrazepam for refractory infantile spasms and the Lennox-Gastaut syndrome.
Chamberlain MC
J Child Neurol 1996 Jan;11(1):31-4. doi: 10.1177/088307389601100107. PMID: 8745382

Diagnosis

A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX.
Yavuz Saricay L, Hoyek S, Ashit Parikh A, Baldwin G, Bodamer OA, Gonzalez E, Patel NA
Ophthalmic Genet 2023 Dec;44(6):591-594. Epub 2023 Feb 2 doi: 10.1080/13816810.2023.2172190. PMID: 36728747
Synthetic pharmaceutical grade cannabidiol for treatment of refractory infantile spasms: A multicenter phase-2 study.
Hussain SA, Dlugos DJ, Cilio MR, Parikh N, Oh A, Sankar R
Epilepsy Behav 2020 Jan;102:106826. Epub 2019 Dec 6 doi: 10.1016/j.yebeh.2019.106826. PMID: 31816477
Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome.
Akasaka N, Tohyama J, Ogawa A, Takachi T, Watanabe A, Asami K
Pediatr Neurol 2013 Nov;49(5):364-7. Epub 2013 Aug 2 doi: 10.1016/j.pediatrneurol.2013.05.014. PMID: 23916859
Multiple intracranial tuberculomas associated with partial status epilepticus and refractory infantile spasms.
Zorn-Olexa C, Laugel V, Martin Ade S, Donato L, Fischbach M
J Child Neurol 2008 Apr;23(4):459-62. doi: 10.1177/0883073807309252. PMID: 18401037
Cerebral tuberculoma presenting as flexion spasms.
Martins CL, Monteiro JP, Sarafana S, Caldas G, Oliveira P, Breia P, Rodeia P, Fonseca MJ
Pediatr Infect Dis J 2007 Jan;26(1):83-4. doi: 10.1097/01.inf.0000247135.05706.e6. PMID: 17195714

Therapy

Treatment with High-Dose Prednisolone in Vigabatrin-Refractory Infantile Spasms.
Al-Shehhi W, Chau V, Boyd J, Snead C, Sharma R, Donner E, Go C, Jain P
Can J Neurol Sci 2022 Jul;49(4):532-539. Epub 2021 Jul 2 doi: 10.1017/cjn.2021.156. PMID: 34212837
Felbamate for infantile spasms syndrome resistant to first-line treatments.
Dozières-Puyravel B, Nasser H, Bellavoine V, Ilea A, Delanoe C, Auvin S
Dev Med Child Neurol 2020 May;62(5):581-586. Epub 2019 Dec 18 doi: 10.1111/dmcn.14427. PMID: 31850517
Synthetic pharmaceutical grade cannabidiol for treatment of refractory infantile spasms: A multicenter phase-2 study.
Hussain SA, Dlugos DJ, Cilio MR, Parikh N, Oh A, Sankar R
Epilepsy Behav 2020 Jan;102:106826. Epub 2019 Dec 6 doi: 10.1016/j.yebeh.2019.106826. PMID: 31816477
Nitrazepam for refractory infantile spasms and the Lennox-Gastaut syndrome.
Chamberlain MC
J Child Neurol 1996 Jan;11(1):31-4. doi: 10.1177/088307389601100107. PMID: 8745382
Treatment of infantile spasms: medical or surgical?
Shields WD, Shewmon DA, Chugani HT, Peacock WJ
Epilepsia 1992;33 Suppl 4:S26-31. doi: 10.1111/j.1528-1157.1992.tb06224.x. PMID: 1330508

Prognosis

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.
Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S
Brain Dev 2018 Jan;40(1):58-64. Epub 2017 Jul 26 doi: 10.1016/j.braindev.2017.07.003. PMID: 28756000
Comparison of short- versus long-term ketogenic diet for intractable infantile spasms.
Kang HC, Lee YJ, Lee JS, Lee EJ, Eom S, You SJ, Kim HD
Epilepsia 2011 Apr;52(4):781-7. Epub 2011 Jan 26 doi: 10.1111/j.1528-1167.2010.02940.x. PMID: 21269294
Treatment of infantile spasms: medical or surgical?
Shields WD, Shewmon DA, Chugani HT, Peacock WJ
Epilepsia 1992;33 Suppl 4:S26-31. doi: 10.1111/j.1528-1157.1992.tb06224.x. PMID: 1330508
Therapeutic trial of vigabatrin in refractory infantile spasms.
Chiron C, Dulac O, Beaumont D, Palacios L, Pajot N, Mumford J
J Child Neurol 1991;Suppl 2:S52-9. PMID: 1940125

Clinical prediction guides

Safety and effectiveness of surgery for epilepsy in children. Experience of a tertiary hospital in Ecuador.
Fernández-Concepción O, López Jiménez M, Valencia-Calderón C, Calderón-Valdivieso A, Recasén-Linares A, Reyes-Haro L, Vásquez-Ham C
Neurologia (Engl Ed) 2021 May;36(4):271-278. Epub 2018 Mar 7 doi: 10.1016/j.nrl.2017.12.006. PMID: 29525400
Felbamate for infantile spasms syndrome resistant to first-line treatments.
Dozières-Puyravel B, Nasser H, Bellavoine V, Ilea A, Delanoe C, Auvin S
Dev Med Child Neurol 2020 May;62(5):581-586. Epub 2019 Dec 18 doi: 10.1111/dmcn.14427. PMID: 31850517
Use of the modified Atkins diet in infantile spasms refractory to first-line treatment.
Sharma S, Sankhyan N, Gulati S, Agarwala A
Seizure 2012 Jan;21(1):45-8. Epub 2011 Sep 14 doi: 10.1016/j.seizure.2011.08.009. PMID: 21920781
Surgery for symptomatic infant-onset epileptic encephalopathy with and without infantile spasms.
Jonas R, Asarnow RF, LoPresti C, Yudovin S, Koh S, Wu JY, Sankar R, Shields WD, Vinters HV, Mathern GW
Neurology 2005 Feb 22;64(4):746-50. doi: 10.1212/01.WNL.0000151970.29205.70. PMID: 15728309
Therapeutic trial of vigabatrin in refractory infantile spasms.
Chiron C, Dulac O, Beaumont D, Palacios L, Pajot N, Mumford J
J Child Neurol 1991;Suppl 2:S52-9. PMID: 1940125

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