Hyperphosphatasia with neurologic deficit: A pyridoxine-responsive seizure disorder?
Hyperphosphatasia with neurologic deficit: A pyridoxine-responsive seizure disorder?
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DOI：
10.1016/j.pediatrneurol.2005.08.020
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发表时间：
2006-04-01
影响因子：
3.8
通讯作者：
Hwang, PA
中科院分区：
文献类型：
--
作者：
Thompson, MD;Killoran, A;Hwang, PA
本报告描述了一例41岁半的女性发育迟缓和强直-慢性癫痫发作，持续升高的血清碱性磷酸酶活性和低血清吡哆醛5'-磷酸。近亲父母足月出生，她畸形，5个月时发育迟缓。11个月时，癫痫发作和小头畸形很明显，但骨骼和大脑成像、核型和遗传代谢测试没有明显变化。然而，血清碱性磷酸酶活性在5个月至4岁半期间有7次升高（比正常上限高1.3 +/- 0.6倍）。我们诊断出一种罕见的常染色体隐性遗传病——高磷酸酶血症伴神经功能缺陷（MIM #239300）。低血清吡哆醛5′-磷酸水平（6 nmol/L，正常水平为20 nmol/L）提示吡哆醇激发。观察到临床显著但矛盾的反应。脑电图显示弥漫性δ慢波（1-2 Hz），提示3期或4期慢波睡眠。每天服用100毫克吡哆醇并停用苯巴比妥，癫痫发作不明显。我们建议在对吡哆醇有矛盾脑电图反应的癫痫发作病例中测量血清碱性磷酸酶。相反，在伴有癫痫发作和神经功能障碍的高磷酸症病例中，应考虑吡哆醇挑战。(c) 2006年Elsevier Inc.版权所有。
This report describes the case of a 41/2-year-old female with developmental delay and tonic-clonic seizures, persistently elevated serum alkaline phosphatase activity, and low serum pyridoxal 5'-phosphate. Born at term to consanguineous parents, she was dysmorphic and delayed at 5 months. At 11 months, seizures and microcephaly were evident but skeletal and cerebral imaging, karyotyping, and genetic metabolic tests were unremarkable. Serum alkaline phosphatase activity, however, was elevated (1.3 +/- 0.6 times greater than the upper limit of normal) on seven occasions between 5 months and 41/2 years of age. Hyperphosphatasia with neurologic deficit (MIM #239300), a rare autosomal recessive disorder, was diagnosed. The low serum levels of pyridoxal 5'-phosphate (6 nmol/L; normal > 20 nmol/L) prompted a pyridoxine challenge. A clinically significant but paradoxical response was observed. On electroencephalography, diffuse delta slow waves (1-2 Hz) were observed, suggestive of stage 3 or 4 slow-wave sleep. With daily administration of 100 mg pyridoxine and withdrawal of phenobarbital, seizures were not evident. We suggest that serum alkaline phosphatase should be measured in cases of seizures with paradoxical electroencephalographic response to pyridoxine. Conversely, pyridoxine challenge should be considered in cases of hyperphosphatasia with seizures and neurologic deficit. (c) 2006 by Elsevier Inc. All rights reserved.