Herranz J L, Arce J L
An Esp Pediatr. 1979 May;12(5):457-62.
Newborn male with convulsive crisis from the third day of life. Analysis and complementary examination, EEG excepted, were normal. After the 40th day of life, no further crisis were observed. Clinical evolution and psychomotor development were normal. Anamnesic findings: 13 members in five generations presented new born conculsions. No psychomotor alterations in the development were observed in all of them, excepted one. An early knowledge of this clinical picture, already described in six families, may avoid dangerous clinical examinations as well as a prolonged anticonvulsive treatment. The mode of inheritance is dominant autosomial.
男婴自出生第三天起出现惊厥发作。除脑电图外,分析及辅助检查均正常。出生40天后未再观察到惊厥发作。临床病程及精神运动发育正常。家族史:五代中有13名成员有新生儿惊厥。除一人外,其他所有人在发育过程中均未观察到精神运动异常。这种已在六个家族中描述过的临床症状,早期了解可避免危险的临床检查以及长期的抗惊厥治疗。遗传方式为常染色体显性遗传。