以脑积水起病的甲基丙二酸尿症合并同型半胱氨酸血症1例报道

甲基丙二酸尿症合并同型半胱氨酸血症极少以脑积水起病。本文报道1例以脑积水起病的该病病例,并进行文献复习,探讨该类有机酸代谢病与脑积水的关系。该患儿以抽搐、脑积水起病,存在大细胞性贫血,发育评估落后,视听功能损伤,脑电图高峰失律,头颅磁共振及超声证实脑积水。血同型半胱氨酸升高,为143.06μmol/L,尿代谢筛查甲基丙二酸浓度为正常值的1483倍,基因检测确诊甲基丙二酸尿症合并同型半胱氨酸血症,为位于1p34.1的c.609G>A纯合突变,属于CblC型维生素B12合成酶缺陷。确诊后加用静脉维生素B12、口服叶酸、甜菜碱后,患儿抽搐缓解,脑室回缩,发育较前进步。因此,对于没有明确病因以脑积水作为主诉就诊的患儿,应注意排查代谢性疾病。

Combined methylmalonic aciduria and homocysteinemia with hydrocephalus as an early presentation: a case report

A case of combined methylmalonic aciduria and homocysteinemia presenting with hydrocephalus as an early manifestation was reported for its rarity to see and to discuss the relationship between metabolic diseases and hydrocephalus by literature review.The case was an infant with seizures and hydrocephalus as an early manifestation of the disease,combined with macrocyticanemia,development retardation and visual hearing function lesions.The EEG showed hypsarrhythmia and the MRI showed hydrocephalus.Plasma homocysteinemia level increased(143.06 umol/L) and urine methylmalonic aciduria was 1483 times beyond normal.Based on gene analysis results and increased methylmalonic aciduria and homocysteinemia levels,combined methylmalonic aciduria and homocysteinemia was confirmed,presenting CblC defect(gene mutations homozygous for c.609G>A).After treatment by venous injection of vitamin B12,oral folic acid and betaine,seizures were controlled and development was progressive with ventricle retraction.It was concluded that hydrocephalus can be the early presentation in children with combined methylmalonic aciduria and homocysteinemia.Doctors should carry out metabolic disease screening for patients with hydrocephalus,especially when the cause of hydrocephalus is uncertain.