Siemes H
Rittberg-Kinderklinik, Berlin.
Monatsschr Kinderheilkd. 1990 Jun;138(6):321-5.
Benign familial neonatal seizures are a rare cause of newborn seizures which can be easily detected by the family history because of their autosomal dominant inheritance. Based on 20 patients documented in the literature and one patient admitted to our clinic, the clinical picture can be characterized as follows: Only newborns at term are affected. Seizure types include multifocal-clonic, focal-clonic and subtle, beginning mostly on the 3rd day after birth (range: 1-8 day), the frequency can reach 40 per day. Interictally the patients are neurologically normal. As a rule, clinical, laboratory and neuroradiological investigations show no relevant deviations. The seizures usually disappear within 8 months. Nearly all children were treated with phenobarbital. After discontinuation of therapy, the seizures relapsed transiently in a few patients. Referring to about 140 patients described in the literature, the following conclusions can be drawn with regard to prognosis: Generally, mental development is normal, however, 4% of the patients later showed mental retardation. About 10% of the children developed epilepsy during childhood or adulthood. Two children died in the neonatal period. The fifth day fits must be separated from benign familial neonatal seizures, these are not genetically determined.
良性家族性新生儿惊厥是新生儿惊厥的一种罕见病因,因其常染色体显性遗传,通过家族史很容易被发现。根据文献记载的20例患者以及我院收治的1例患者,临床表现如下:仅足月新生儿受累。惊厥类型包括多灶性阵挛性、局灶性阵挛性和细微型,大多在出生后第3天开始发作(范围:1 - 8天),发作频率可达每天40次。发作间期患者神经功能正常。通常,临床、实验室及神经影像学检查均无相关异常。惊厥通常在8个月内消失。几乎所有患儿都接受了苯巴比妥治疗。治疗停药后,少数患者惊厥会短暂复发。参考文献中描述的约140例患者,关于预后可得出以下结论:一般来说,智力发育正常,然而,4%的患者后来出现智力发育迟缓。约10%的儿童在儿童期或成年期发展为癫痫。两名儿童在新生儿期死亡。出生第5天发作的情况必须与良性家族性新生儿惊厥相鉴别,后者并非由遗传决定。