Chaix Y, Gencourt C, Grouteau E, Carrière J P
Service de médecine infantile A, CHU de Purpan, Toulouse, France.
Arch Pediatr. 1997 Oct;4(10):971-4. doi: 10.1016/s0929-693x(97)86093-9.
Acute intermittent porphyria is an autosomal dominant inborn error of heme biosynthesis. The diagnosis of acute porphyria is rare before puberty. Its association with epilepsy induces difficulties in diagnosis and seizure treatment.
A case of acute intermittent porphyria in a 9-year old boy with epilepsy is reported. The diagnosis was made only after the third hospitalisation, with the measurement of enzyme activity and identification of family members with latent disease. Adjustment of antiepileptic treatment was necessary 7 months later.
Most antiepileptic drugs are unsafe because they have demonstrated porphyrinogenicity. Low doses of clonazepam can be used in this situation.
急性间歇性卟啉病是一种常染色体显性遗传性血红素生物合成先天性缺陷病。青春期前急性卟啉病的诊断较为罕见。其与癫痫的关联给诊断和癫痫治疗带来困难。
报告了一名9岁癫痫男孩患急性间歇性卟啉病的病例。仅在第三次住院后，通过酶活性测定及对潜在患病家庭成员的鉴定才得以确诊。7个月后有必要调整抗癫痫治疗。
大多数抗癫痫药物不安全，因为它们已被证明有致卟啉生成性。在这种情况下可使用低剂量的氯硝西泮。
