Bruel H, Boulloche J, Chabrolle J P, Layet V, Poinsot J
Service de Médecine Néonatale, Centre Hospitalier du Havre, France.
Arch Pediatr. 1998 Apr;5(4):397-9. doi: 10.1016/s0929-693x(98)80026-2.
Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes.
A girl, born from consanguineous parents, died from myoclonic epileptic encephalopathy at the age of 3 months. Screening for metabolic disease was negative, except for increased levels of urine serotonin and 5-hydroxyindol-acetic in cerebrospinal fluid, blood and urine. Two sisters died with non ketotic hyperglycinemia, corpus callosum agenesis and clubfoot.
Familial occurrence of non ketotic hyperglycinemia and early myoclonic epileptic encephalopathy is uncommon.
新生儿肌阵挛性脑病源于器质性病变或代谢紊乱；非酮症高甘氨酸血症是其病因之一。
一名女孩，父母近亲结婚，3个月大时死于肌阵挛性癫痫性脑病。除脑脊液、血液和尿液中尿血清素和5-羟吲哚乙酸水平升高外，代谢疾病筛查结果均为阴性。该女孩的两个姐姐死于非酮症高甘氨酸血症、胼胝体发育不全和马蹄内翻足。
非酮症高甘氨酸血症和早期肌阵挛性癫痫性脑病的家族性发病情况并不常见。
