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- Imataka George
- Department of Pediatrics, Dokkyo Medical University School of Medicine, Japan
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- Kuribayashi Ryouta
- Department of Pediatrics, Dokkyo Medical University School of Medicine, Japan
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- Tsukada Keiko
- Department of Pediatrics, Dokkyo Medical University School of Medicine, Japan
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- Tsuboi Tatsuo
- Department of Pediatrics, Dokkyo Medical University School of Medicine, Japan
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- Yamanouchi Hideo
- Department of Pediatrics, Saitama Medical University School of Medicine, Japan
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- Arisaka Osamu
- Department of Pediatrics, Dokkyo Medical University School of Medicine, Japan
この論文をさがす
抄録
Pyridoxine dependence is a very rare inborn error of metabolism. The disorder develops mainly during the early neonatal period, and cases diagnosed in infants are even rarer. We herein report a case of a 77-day-old boy with status epilepticus diagnosed with pyridoxine dependence. On day 2 after birth, the boy required respiratory management after entering a partial convulsive state. The convulsions did not respond to phenobarbitals and were temporarily controlled by continuous intravenous administration of midazolam. Subsequently, partial seizures occurred frequently, and the patient was observed under treatment with oral phenobarbital and phenytoin, and intravenous midazolam. However, at 65 days of age, partial convulsions of the right upper and lower limbs lasting for one minute occurred episodically in clusters every few to ten minutes. A high dose of phenobarbital was administered and the blood concentration increased to 42 μg/ml, but convulsions were not controlled. At 77 days of age, when 100 mg of pyridoxine was slowly injected intravenously during electroencephalography, the background activity flattened and spikes disappeared. Pyridoxine dependence was diagnosed and all antiepileptic agents were discontinued. Oral administration of pyridoxine at 10 mg/kg/day was started and seizures no longer occurred. Pyridoxine dependence is a treatable inborn error of metabolism. To obtain a diagnosis of pyridoxine dependence, trial administration of pyridoxine is essential, and the pyridoxine test for a definitive diagnosis should also be conducted in cases of status epilepticus during infancy.
収録刊行物
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- Epilepsy & Seizure
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Epilepsy & Seizure 4 (1), 1-6, 2011
一般社団法人 日本てんかん学会
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詳細情報 詳細情報について
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- CRID
- 1390001205288736000
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- NII論文ID
- 130000761120
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- ISSN
- 18825567
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
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- 抄録ライセンスフラグ
- 使用不可