Kluger G, Blank R, Paul K, Paschke E, Jansen E, Jakobs C, Wörle H, Plecko B
Klinik für Neuropädiatrie und Neurologische Rehabilitation, Epilepsiezentrum für Kinder und Jugendliche, BHZ Vogtareuth, Germany.
Neuropediatrics. 2008 Oct;39(5):276-9. doi: 10.1055/s-0029-1202833. Epub 2009 Mar 17.
We report on a male proband with pyridoxine-dependent epilepsy (PDE) and neonatal seizure onset. At the age of 31 months, a prolonged status epilepticus led to severe neurological regression with cortical blindness, loss of speech and muscular hypotonia with slow recovery over the following 3 months. At 33 months of age pyridoxine therapy was initiated with excellent response and the boy remained seizure-free on pyridoxine monotherapy, except for two occasions with seizure recurrence 10 days after accidental pyridoxine withdrawal. alpha-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency was indicated by elevated pipecolic acid concentrations in plasma and alpha-aminoadipic semialdehyde excretion in urine. Molecular analysis of the antiquitin gene revealed a novel missense mutation c.57insA, while the mutation of the other allele remained unidentified so far. Despite the delay in diagnosis and prolonged status epilepticus, neuropsychological evaluations at the ages of 11 and 18 years demonstrated full-scale IQ of 93 and 92, respectively, with better verbal IQ (103 and 101) than performance IQ (85 and 82).
我们报告了一名患有吡哆醇依赖性癫痫（PDE）且癫痫发作始于新生儿期的男性先证者。31个月大时，一次长时间的癫痫持续状态导致严重的神经功能衰退，出现皮质盲、言语丧失和肌张力减退，并在接下来的3个月内恢复缓慢。33个月大时开始使用吡哆醇治疗，反应良好，该男孩在仅使用吡哆醇单药治疗时未再发作，除了在意外停用吡哆醇10天后有两次癫痫复发。血浆中哌可酸浓度升高和尿中α-氨基己二酸半醛排泄增加提示α-氨基己二酸半醛脱氢酶（抗喹啉）缺乏。对抗喹啉基因的分子分析发现了一个新的错义突变c.57insA，而另一个等位基因的突变至今仍未确定。尽管诊断延迟且癫痫持续状态时间较长，但11岁和18岁时的神经心理学评估显示，全量表智商分别为93和92，言语智商（103和101）优于操作智商（85和82）。
