甲基丙二酸血症合并同型半胱氨酸血症致儿童脊髓亚急性联合变性1例报告

doi:10.12372/jcp.2026.25e0982

临床儿科杂志 ›› 2026, Vol. 44 ›› Issue (6): 584-588.doi: 10.12372/jcp.2026.25e0982

甲基丙二酸血症合并同型半胱氨酸血症致儿童脊髓亚急性联合变性1例报告

陈刘王¹, 刘盼¹, 席荣娟¹, 张先霞¹, 张毅¹, 韦性娇¹, 苏敏², 杨永红¹, 付扬喜¹()

¹ 西安国际医学中心医院儿童内二科（陕西西安 710100）
² 西安国际医学中心医院 PICU（陕西西安 710100）

收稿日期:2025-08-12 修回日期:2025-11-13 录用日期:2025-12-05 出版日期:2026-06-15 发布日期:2026-06-04
通讯作者: 付扬喜 E-mail:15619157036@163.com
作者简介:第一联系人：作者贡献（Authors’ Contributions）
陈刘王负责文章初稿撰写；刘盼、席荣娟负责查阅文献；张先霞，张毅负责数据整理与核对；韦性娇、苏敏负责论文修改；杨永红负责选题、研究指导；付扬喜负责文章审阅与修订并终审论文。

Methylmalonic acidemia with homocystinemia causing subacute combined degeneration of the spinal cord : a case report

CHEN Liuwang¹, LIU Pan¹, XI Rongjuan¹, ZHANG Xianxia¹, ZHANG Yi¹, WEI Xingjiao¹, SU Min², YANG Yonghong¹, FU Yangxi¹()

¹ Department of Pediatrics, Xi’an International Medical Center Hospital, Xi’an 710100, Shaanxi, China
² Intensive Care Unit, Xi’an International Medical Center Hospital, Xi’an 710100, Shaanxi, China

Received:2025-08-12 Revised:2025-11-13 Accepted:2025-12-05 Published:2026-06-15 Online:2026-06-04
Contact: FU Yangxi E-mail:15619157036@163.com

摘要/Abstract

摘要：

甲基丙二酸血症（MMA）为常见的有机酸血症，然而在儿童期引发脊髓亚急性联合变性（SCD）的情况极为罕见，且起病隐匿，极易造成漏诊。本研究旨在对1例MMA合并同型半胱氨酸血症导致SCD患儿的临床资料进行回顾性分析，以提升临床医师对此类情况的认知。患儿为8岁男性，以进行性行走不稳起病，既往存在语言与运动发育迟缓情况，已被诊断为智力发育障碍。神经系统查体显示，双下肢肌力为Ⅳ级+，肌张力略高，深感觉及复合感觉减退，闭目难立征及轮替试验呈阳性。辅助检查示，血同型半胱氨酸、丙酰肉碱、尿甲基丙二酸水平显著升高；全脊髓磁共振成像（MRI）显示，胸5~8椎体水平胸髓后索存在弥漫性异常信号。基因检测证实MMACHC基因存在复合杂合变异c.217C>T、c.365A>T，确诊为cbl C型MMA合并同型半胱氨酸血症。予左卡尼汀、维生素B₆、甜菜碱、叶酸等治疗后，患儿神经系统症状与体征完全缓解，步态恢复正常，血同型半胱氨酸和尿甲基丙二酸水平显著降低。MMA合并同型半胱氨酸血症导致SCD在儿童中较为少见，早期结合生化指标、脊髓MRI及MMACHC基因检测可明确诊断，针对原发疾病的及时干预能够显著改善包括SCD在内的临床表现。

关键词: 甲基丙二酸血症, 同型半胱氨酸血症, 脊髓亚急性联合变性, 儿童

Abstract:

Methylmalonic acidemia (MMA) is a relatively common inherited organic acid disorder. However, MMA-associated subacute combined degeneration of the spinal cord (SCD) in pediatric patients remains exceedingly rare, with insidious onset and high risk of diagnostic delay or misdiagnosis. This report presents a retrospective analysis of the clinical, neuroimaging, biochemical, and genetic features of an 8-year-old boy diagnosed with cblC-type MMA-homocysteinemia who developed SCD. The patient initially presented with progressive gait ataxia and had a documented history of global developmental delay, including language and motor milestones, and was previously diagnosed with mild intellectual disability. Neurological examination revealed bilateral lower-limb muscle strength of grade IV+, mild spasticity, impaired vibration and proprioception, reduced cortical sensation, and positive Romberg and heel-knee-shin tests. Laboratory tests showed significantly elevated levels of homocysteine, propionylcarnitine, and methylmalonic acid in the blood and urine. Whole-spine magnetic resonance imaging (MRI) demonstrated diffuse abnormal signals in the posterior columns of the thoracic spinal cord at the T5-T8 levels. Genetic testing confirmed compound heterozygous variations in the MMACHC gene, c.217C>T and c.365A>T, confirming the diagnosis of cbl C type MMA combined with homocysteinemia. After treatment with L-carnitine, vitamin B₆, betaine, and folic acid, the patient's neurological symptoms and signs completely resolved, gait returned to normal, and blood homocysteine and urine methylmalonic acid levels significantly decreased. MMA combined with homocysteinemia leading to SCD is relatively rare in children. Early diagnosis can be made by combining biochemical indicators, spinal cord MRI, and MMACHC gene testing. Timely intervention for the primary disease can significantly improve clinical manifestations, including SCD.

Key words: methylmalonic acidemia, homocystinemia, subacute combined degeneration, child

中图分类号:

陈刘王, 刘盼, 席荣娟, 张先霞, 张毅, 韦性娇, 苏敏, 杨永红, 付扬喜. 甲基丙二酸血症合并同型半胱氨酸血症致儿童脊髓亚急性联合变性1例报告[J]. 临床儿科杂志, 2026, 44(6): 584-588.

CHEN Liuwang, LIU Pan, XI Rongjuan, ZHANG Xianxia, ZHANG Yi, WEI Xingjiao, SU Min, YANG Yonghong, FU Yangxi. Methylmalonic acidemia with homocystinemia causing subacute combined degeneration of the spinal cord : a case report[J]. Journal of Clinical Pediatrics, 2026, 44(6): 584-588.

图/表 1

参考文献 13

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甲基丙二酸血症合并同型半胱氨酸血症致儿童脊髓亚急性联合变性1例报告

Methylmalonic acidemia with homocystinemia causing subacute combined degeneration of the spinal cord : a case report

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