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婴儿期维生素B6依赖型癫痫一例罕见病例。

A Rare Case of Pyridoxine-dependent Seizures in Infancy.

作者信息

Murty V S S Yerramilli, Kishore M S S, Patel Manisha R

机构信息

Department of Pediatrics, Maharajhas Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India.

出版信息

J Clin Neonatol. 2013 Jan;2(1):39-41. doi: 10.4103/2249-4847.109248.

DOI:10.4103/2249-4847.109248
PMID:24027745
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3761950/
Abstract

Pyridoxine-dependent seizures is a rare cause of recurrent seizures in neonatal period and resistant to most of the antiepileptic medications, but respond to administration of pyridoxine. We report a male infant who had neonatal seizures which were initially responsive to anticonvulsants and later became unresponsive and presented at 45 days of life with seizures. These seizures were not responding to any anticonvulsant but responded to pyridoxine. After discharge parents inadvertently stopped pyridoxine and the infant presented with seizures once again. These seizures were promptly controlled with readministration of pyridoxine confirming the diagnosis of pyridoxine-dependant seizures.

摘要

维生素B6依赖型癫痫是新生儿期反复癫痫发作的罕见原因,对大多数抗癫痫药物耐药,但对维生素B6治疗有反应。我们报告一名男婴,其新生儿期癫痫发作最初对抗惊厥药物有反应,后来无反应,在45日龄时出现癫痫发作。这些癫痫发作对抗癫痫药物均无反应,但对维生素B6有反应。出院后,家长无意中停用了维生素B6,婴儿再次出现癫痫发作。再次给予维生素B6后,癫痫发作迅速得到控制,从而确诊为维生素B6依赖型癫痫。

相似文献

1
A Rare Case of Pyridoxine-dependent Seizures in Infancy.婴儿期维生素B6依赖型癫痫一例罕见病例。
J Clin Neonatol. 2013 Jan;2(1):39-41. doi: 10.4103/2249-4847.109248.
2
Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report.吡哆醇依赖性癫痫伴不良神经发育结局:病例报告。
Pediatr Neurol. 2023 Dec;149:53-55. doi: 10.1016/j.pediatrneurol.2023.08.032. Epub 2023 Aug 26.
3
Pyridoxine-dependent epilepsy initially responsive to phenobarbital.吡哆醇依赖性癫痫最初对苯巴比妥有反应。
Arq Neuropsiquiatr. 2007 Dec;65(4A):1026-9. doi: 10.1590/s0004-282x2007000600023.
4
Late-onset pyridoxine-dependent seizures: report of two cases.迟发性吡哆醇依赖性癫痫:两例报告
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1995 Nov-Dec;36(6):434-7.
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Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy.局灶性癫痫持续状态作为维生素B6依赖型癫痫的非典型表现。
J Child Neurol. 2005 Aug;20(8):696-8. doi: 10.1177/08830738050200081301.
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Neonatal vitamin-responsive epileptic encephalopathies.新生儿维生素反应性癫痫性脑病
Chang Gung Med J. 2010 Jan-Feb;33(1):1-12.
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Pyridoxine dependent epilepsies: new therapeutical point of view.吡哆醇依赖性癫痫:新的治疗观点。
Ital J Pediatr. 2017 Aug 5;43(1):68. doi: 10.1186/s13052-017-0387-3.
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Pyridoxine dependent seizures--a wider clinical spectrum.维生素B6依赖型癫痫——更广泛的临床谱
Arch Dis Child. 1983 Jun;58(6):415-8. doi: 10.1136/adc.58.6.415.
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Pyridoxine-dependent seizures: a case report and a critical review of the literature.
J Paediatr Child Health. 2001 Dec;37(6):592-6. doi: 10.1046/j.1440-1754.2001.00701.x.
10
Pyridoxine-Dependent Epilepsy as a Cause of Neonatal Seizures.吡哆醇依赖性癫痫作为新生儿癫痫的病因。
R I Med J (2013). 2022 Mar 1;105(2):17-21.

本文引用的文献

1
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.由吡哆醇依赖性癫痫引起的严重新生儿低血糖和乳酸性酸中毒。
Pediatrics. 2012 May;129(5):e1368-72. doi: 10.1542/peds.2011-0123. Epub 2012 Apr 23.
2
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy.辅助诊断吡哆醇依赖性癫痫不典型发作的生物标志物。
Pediatr Neurol. 2011 Apr;44(4):289-91. doi: 10.1016/j.pediatrneurol.2010.11.012.
3
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.对吡哆醇-IV 的脑电图反应既不能确定也不能排除吡哆醇依赖性癫痫。
Epilepsia. 2010 Dec;51(12):2406-11. doi: 10.1111/j.1528-1167.2010.02747.x. Epub 2010 Sep 30.
4
Electroencephalographic changes in pyridoxine-dependant epilepsy: new observations.吡哆醇依赖性癫痫的脑电图变化:新的观察结果。
Epileptic Disord. 2009 Dec;11(4):293-300. doi: 10.1684/epd.2009.0280. Epub 2009 Dec 23.
5
Pyridoxine-dependent seizures: 10-year follow-up of eight cases.维生素B6依赖型癫痫:8例患者的10年随访
Neurol India. 2009 Jul-Aug;57(4):460-3. doi: 10.4103/0028-3886.55595.
6
Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.产前治疗两名依赖吡哆醇的发作的荷兰家庭患者。
Eur J Pediatr. 2010 Mar;169(3):297-303. doi: 10.1007/s00431-009-1020-2. Epub 2009 Jul 9.
7
Pyridoxine-dependent epilepsy initially responsive to phenobarbital.吡哆醇依赖性癫痫最初对苯巴比妥有反应。
Arq Neuropsiquiatr. 2007 Dec;65(4A):1026-9. doi: 10.1590/s0004-282x2007000600023.
8
Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy.局灶性癫痫持续状态作为维生素B6依赖型癫痫的非典型表现。
J Child Neurol. 2005 Aug;20(8):696-8. doi: 10.1177/08830738050200081301.
9
Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy.磷酸吡哆醛在控制特发性难治性癫痫方面比吡哆醇效果更好。
Arch Dis Child. 2005 May;90(5):512-5. doi: 10.1136/adc.2003.045963.
10
Pyridoxine-dependent seizures: magnetic resonance spectroscopy findings.维生素B6依赖型癫痫:磁共振波谱分析结果
J Child Neurol. 2004 Jan;19(1):75-8. doi: 10.1177/08830738040190010712.