Steenhout P, Elmer C, Clercx A, Blum D, Gnat D, van Erum S, Vertongen F, Vamos E
Department of Pediatrics, University Hospital St-Pierre, Brussels, Belgium.
J Inherit Metab Dis. 1990;13(1):69-75. doi: 10.1007/BF01799334.
A small-for-date infant presented at birth with severe non-immune hydrops, cardiac failure, metabolic acidosis and hypoglycaemia. Ultrasonography disclosed a cardiomyopathy. Initial therapy consisting of artificial ventilation, inotropes and diuretics resulted in partial disappearance of oedema without significant improvement in cardiac function. Episodes of hypoglycaemia recurred despite continuous glucose infusions. Total serum carnitine from cord blood was 1.65 nmoles/ml and was undetectable on day 20. Oral DL-carnitine supplements resulted in normoglycaemia, dramatic improvement in cardiac function and restoration of serum carnitine levels to normal values. The infant was thereafter maintained on carnitine therapy. Follow-up over 1 year showed moderate growth retardation and normal developmental milestones. In order to account for such a severe neonatal presentation of carnitine deficiency, a combination of defective pre- and postnatal carnitine supply with an inborn error of carnitine handling is considered. The present case illustrates the need for evaluation of carnitine status in fetuses and neonates presenting with hydrops associated with cardiac failure.
一名小于胎龄儿出生时表现为严重的非免疫性水肿、心力衰竭、代谢性酸中毒和低血糖。超声检查发现心肌病。初始治疗包括人工通气、强心剂和利尿剂，水肿部分消退，但心脏功能无明显改善。尽管持续输注葡萄糖，低血糖仍反复发作。脐血总血清肉碱为1.65纳摩尔/毫升，第20天时检测不到。口服DL-肉碱补充剂后血糖恢复正常，心脏功能显著改善，血清肉碱水平恢复至正常。此后该婴儿持续接受肉碱治疗。1年的随访显示有中度生长发育迟缓，但发育里程碑正常。为了解释这种严重的新生儿肉碱缺乏表现，考虑产前和产后肉碱供应缺陷与肉碱代谢先天性异常共同作用。本病例说明，对于出现与心力衰竭相关水肿的胎儿和新生儿，有必要评估其肉碱状态。
