Abstract
Background
Infantile spasms (IS) was an epileptic disease with varied treatment widely among clinicians. Here, we aimed to compare and analyze the clinical characteristics of IS response to pyridoxine or topiramate monotherapy (TPM control IS).
Methods
The clinical manifestations, treatment processes and outcomes were analyzed in 11 pyridoxine responsive IS and 17 TPM-control IS.
Results
Of the 11 patients with pyridoxine responsive IS, nine were cryptogenic/idiopathic. Age of seizure onset was 5.36 ± 1.48 months. Spasms were controlled within a week in most of the patients. At the last follow-up, EEG returned to normal in 8. Psychomotor development was normal in 6, mild delay in 3, severe delay in 2. Of the 17 patients with TPM-control IS, 10 were cryptogenic/idiopathic. The age of seizure onset was 5.58 ± 2.09 months. All patients were controlled within a month. At the last follow-up, EEG was normal in 10. Psychomotor development was normal in 8, mild delay in 5, severe delay in 4. Genetic analysis did not show any meaningful results.
Conclusions
The clinical characteristics and disease courses of pyridoxine responsive IS and TPM-control IS were similar, which possibly clued for a same pathogenic mechanism. Pyridoxine should be tried first in all IS patients, even in symptomatic cases. If patients were not responsive to pyridoxine, TPM could be tried.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
West WJ. On a peculiar form of infantile convulsions. Lancet. 1841;1:724–5.
Taghdiri MM, Nemati H. Infantile spasm: a review article. Iran J Child Neurol. 2014;8:1–5.
Nelson GR. Management of infantile spasms. Transl Pediatr. 2015;4:260–70.
Toribe Y. High-dose vitamin B(6) treatment in West syndrome. Brain Dev. 2001;23:654–7.
Ohtahara S, Yamatogi Y, Ohtsuka Y. Vitamin B(6) treatment of intractable seizures. Brain Dev. 2011;33:783–9.
Coursin DB. Convulsive seizures in infants with pyridoxine-deficiency diet. J Am Med Assoc. 1954;154:406–8.
Tong Y. Seizures caused by pyridoxine (vitamin B6) deficiency in adults: a case report and literature review. Intractable Rare Dis Res. 2014;3:52–6.
Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med. 2006;12:307–9.
Kwon YS, Jun YH, Hong YJ, Son BK. Topiramate monotherapy in infantile spasm. Yonsei Med J. 2006;47:498–504.
Gümüş H, Kumandaş S, Per H. Levetiracetam monotherapy in newly diagnosed cryptogenic West syndrome. Pediatr Neurol. 2007;37:350–3.
Chandra S, Bhave A, Bhargava R, Kumar C, Kumar R. West syndrome: response to valproate. Front Neurol. 2012;3:166.
Riikonen R. Recent advances in the pharmacotherapy of infantile spasms. CNS Drugs. 2014;28:279–90.
Ohtsuka Y, Ogino T, Asano T, Hattori J, Ohta H, Oka E. Long-term follow-up of vitamin B6-responsive West syndrome. Pediatr Neurol. 2000;23:202–6.
Kong WJ, Zhang YJ, Gao Y, Liu X, Gao K, Xie H, et al. SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. Epilepsia. 2015;56:431–8.
Ohtsuka Y, Matsuda M, Ogino T, Kobayashi K, Ohtahara S. Treatment of the West syndrome with high-dose pyridoxal phosphate. Brain Dev. 1987;9:418–21.
Hosain SA, Merchant S, Solomon GE, Chutorian A. Topiramate for the treatment of infantile spasms. J Child Neurol. 2006;21:17–9.
Tsuji T, Okumura A, Ozawa H, Ito M, Watanabe K. Current treatment of West syndrome in Japan. J Child Neurol. 2007;22:560–4.
Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures. Dev Med Child Neurol. 2001;43:416–20.
Güveli BT, Çokar Ö, Dörtcan N, Benbir G, Demirbilek V, Dervent A. Long-term outcomes in patients with West syndrome: an outpatient clinical study. Seizure. 2015;25:68–71.
Pavone P, Striano P, Falsaperla R, Pavone L, Ruggieri M. Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013. Brain Dev. 2014;36:739–51.
Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms. Pediatr Neurol. 2011;45:355–67.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab. 2011;104:48–60.
Tsao CY. Current trends in the treatment of infantile spasms. Neuropsychiatr Dis Treat. 2009;5:289–99.
Funding
This research was supported by grants from Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases (No: BZ0317).
Author information
Authors and Affiliations
Contributions
JX contributed to study design, collection, evaluation and interpretation of the data, and drafting and writing of the manuscript. PQ, HL, YW, HX and YZ contributed to collection, evaluation and interpretation of the data. ZY contributed to study design, collection, evaluation and interpretation of the data, and revised the manuscript and approved the final version.
Corresponding author
Ethics declarations
Ethical approval
This study was approved by the Ethical Committee of Peking University First Hospital. The individuals’ parents in this manuscript had given written informed consent to publish these cases details. All data were analyzed anonymously.
Conflict of interest
The authors declare that they have no conflict of interest.
Rights and permissions
About this article
Cite this article
Xue, J., Qian, P., Li, H. et al. Clinical characteristics of two cohorts of infantile spasms: response to pyridoxine or topiramate monotherapy. World J Pediatr 14, 290–297 (2018). https://doi.org/10.1007/s12519-018-0127-9
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12519-018-0127-9