脑脊髓病样表现的生物素酶缺乏症1例报告并文献复习

发布时间：2018-05-10 19:26

本文选题：生物素酶缺乏 + 生物素　；参考：《临床儿科杂志》2017年01期

【摘要】：目的探讨脑脊髓病样表现的生物素酶(BTD)缺乏症的诊断和治疗。方法回顾分析1例BTD缺乏症患儿的临床资料,并分析相关文献。结果患儿,男,6岁,入院前3个月进行性双下肢痉挛性瘫痪;既往在3岁感冒后出现类似情况;平时手易脱皮,有口角炎。外院检查示视听诱发电位异常。入院后查脑脊液正常,头颅磁共振成像(MRI)示双侧枕叶、基底节区多发点片状稍长T1长T2异常信号;入院后出现延髓麻痹表现,给予气管插管呼吸机辅助通气。尿气相色谱-质谱(GC/MS)分析,尿乳酸、3-羟基异戊酸、3-甲基巴豆酰甘氨酸、甲基枸橼酸及3-羟基丙酸排泄量增高;血串联质谱技术(MS/MS)分析,丙酰基肉碱、3-羟基异戊酰肉碱(C5-OH)浓度明显升高;血BTD活性明显降低0.076 pmol/(min·mm~3),确诊为BTD缺乏症。给予生物素40 mg/d口服,3天后撤机成功,2周后可行走,皮疹消退;3周后复查头颅MRI示原病灶消失,脊髓MRI未见异常。PCR直接测序法检测BTD基因,发现患儿第2号外显子上T172T/C杂合突变和第4号外显子上T1413C纯合突变,家系验证及数据库查询证实后者为致病性突变。出院后继续给予生物素口服20 mg/d,随访2年无异常。结论 BTD缺乏症表现复杂多样,尿GC/MS及血MS/MS分析可协助诊断,BTD活性测定及BTD基因检测可进一步确诊此病,及时给予生物素治疗疗效显著。
[Abstract]:Objective to investigate the diagnosis and treatment of biotin enzyme (BTD) deficiency in cerebral spinal cord disease. Methods the clinical data of one child with BTD deficiency were analyzed retrospectively. Results the children were 6 years old and had progressive spastic paralysis of lower extremities 3 months before admission. External hospital examination showed abnormal audiovisual evoked potential. After admission, cerebrospinal fluid (CSF) was normal, cranial magnetic resonance imaging (MRI) showed bilateral occipital lobes and basal ganglia with a little longer T _ 1 and T _ 2 abnormal signals, and after admission, medullary palsy appeared, and tracheal intubation ventilator assisted ventilation was given. Urine gas chromatography-mass spectrometry (GC / MS) analysis showed that urinary lactate, 3-hydroxyisovalerate, 3-methylcrotonyl glycine, methyl citric acid and 3-hydroxypropionic acid excreted increased. The concentration of C _ (5-OH) and the activity of BTD in blood were significantly decreased by 0.076 pmol/(min / mm ~ (-3), and the diagnosis of BTD deficiency was confirmed by the concentration of propionyl carnitine 3-hydroxy-isovaleryl carnitine (C5-OH). After administration of biotin 40 mg/d orally for 3 days, the weaning machine was able to walk for 2 weeks. After 3 weeks, the head MRI showed that the original lesion disappeared and the spinal cord MRI was not abnormal. The BTD gene was detected by direct sequencing. T172T/C heterozygosity mutation on exon 2 and homozygous mutation T1413C on exon 4 were found in children. Pedigree validation and database query confirmed that the latter mutation was pathogenicity. After discharge, biotin was given orally for 20 mg / d and was followed up for 2 years. Conclusion BTD deficiency is complicated and diverse. Urine GC/MS and blood MS/MS analysis can help to diagnose the disease by detecting the activity of BTD and the detection of BTD gene. The treatment effect of biotin in time is remarkable.
【作者单位】：陆军总医院附属八一儿童医院神经发育科;
【分类号】：R725.8

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