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

刘黎黎; 侯新琳; 周丛乐; 杨艳玲

doi:10.7499/j.issn.1008-8830.2013.04.017

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中国当代儿科杂志 ›› 2013, Vol. 15 ›› Issue (4) : 313-315. DOI: 10.7499/j.issn.1008-8830.2013.04.017

病例报告

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

刘黎黎，侯新琳，周丛乐，杨艳玲

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

LIU Li-Li, HOU Xin-Lin, ZHOU Cong-Le, YANG Yan-Ling

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Abstract

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.

Key words

Hydrocephalus / Methylmalonic aciduria / Homocysteinemia / Infant

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刘黎黎，侯新琳，周丛乐，杨艳玲. 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[J]. 中国当代儿科杂志. 2013, 15(4): 313-315 https://doi.org/10.7499/j.issn.1008-8830.2013.04.017

LIU Li-Li, HOU Xin-Lin, ZHOU Cong-Le, YANG Yan-Ling. Combined methylmalonic aciduria and homocysteinemia with hydrocephalus as an early presentation: a case report[J]. Chinese Journal of Contemporary Pediatrics. 2013, 15(4): 313-315 https://doi.org/10.7499/j.issn.1008-8830.2013.04.017

参考文献

［1］Yang Y, Sun F, Song J, Hasegawa Y, Yamaguchi S, Zhang Y, et al. Clinical and biochemical studies on Chinese patients with methylmalonic aciduria［J］. J Child Neurol, 2006, 21(12): 1020-1024.

［2］侯新琳,钱宁. 甲基丙二酸尿症研究进展［J］. 中国当代儿科杂志，2005，7(2)：183-185.

［3］Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL, Watkins D, et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type［J］. Nat Gen, 2006, 38(1): 93-100.

［4］Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, et al. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations［J］. Hum Mutat, 2009, 30(7): 1072-1081.

［5］Chang JT, Chen YY, Liu TT, Liu MY, Qiu PC. Combined methylmalonic aciduria and homocystinuria cblC type of a taiwanese infant with c.609G>A and c.567dupT mutations in the MMACHC Gene［J］. Pediatr Neonatol, 2011, 52(4): 223-226.

［6］Liu MY, Yang YL, Chang YC, Chiang SH, Lin SP, Han LS, et al. Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria［J］. J Hum Genet, 2010, 55(9): 621-626

［7］刘玉鹏，马艳艳，吴桐菲，王峤，李溪远，杨艳玲，等. 早发型甲基丙二酸尿症160例新生儿期异常表现［J］. 中华儿科杂志，2012，50(6)：410-414.

［8］Martinelli D, Deodato F, Dionisi-Vici C. Cobalamin C defect: natural history, pathophysiology, and treatment［J］. J Inherit Metab Dis, 2011, 34(1): 127-135.

［9］叶锦棠，谢晟，肖江喜，齐朝月，杨艳玲. 婴幼儿甲基丙二酸尿症的MR表现［J］. 中国医学影像技术，2008，24（8）：1192-1194.

［10］Rossi A, Cerone R, Biancheri R, Gatti R, Schiaffino MC, Fonda C, et al. Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings［J］. AJNR Am J Neuroradiol, 2001, 22(3): 554-563.

［11］Deodato F, Boenzi S, Rizzo C, Dionisi-Vici C. The clinical picture of early onset cobalamin C defect (methylmalonic aciduria and homocystinuria)［J］. Paediatr Child Health, 2008, 18(1): 57-60.

［12］陈娟，李玉华. 甲基丙二酸尿症及丙酸尿症的颅脑MRI研究［J］. 放射学实践，2008，23(6)：595-597.

［13］Greitz D. Radiological assessment of hydrocephalus: new theories and implications for therapy［J］. Neurosurg Rev, 2004, 27(3): 145-165.