本文選題：生物素酶缺乏 + 生物素�。� 參考：《臨床兒科雜志》2017年01期

【摘要】：目的探討腦脊髓病樣表現(xiàn)的生物素酶(BTD)缺乏癥的診斷和治療。方法回顧分析1例BTD缺乏癥患兒的臨床資料,并分析相關文獻。結果患兒,男,6歲,入院前3個月進行性雙下肢痙攣性癱瘓;既往在3歲感冒后出現(xiàn)類似情況;平時手易脫皮,有口角炎。外院檢查示視聽誘發(fā)電位異常。入院后查腦脊液正常,頭顱磁共振成像(MRI)示雙側枕葉、基底節(jié)區(qū)多發(fā)點片狀稍長T1長T2異常信號;入院后出現(xiàn)延髓麻痹表現(xiàn),給予氣管插管呼吸機輔助通氣。尿氣相色譜-質譜(GC/MS)分析,尿乳酸、3-羥基異戊酸、3-甲基巴豆酰甘氨酸、甲基枸櫞酸及3-羥基丙酸排泄量增高;血串聯(lián)質譜技術(MS/MS)分析,丙�；鈮A、3-羥基異戊酰肉堿(C5-OH)濃度明顯升高;血BTD活性明顯降低0.076 pmol/(min·mm~3),確診為BTD缺乏癥。給予生物素40 mg/d口服,3天后撤機成功,2周后可行走,皮疹消退;3周后復查頭顱MRI示原病灶消失,脊髓MRI未見異常。PCR直接測序法檢測BTD基因,發(fā)現(xiàn)患兒第2號外顯子上T172T/C雜合突變和第4號外顯子上T1413C純合突變,家系驗證及數據庫查詢證實后者為致病性突變。出院后繼續(xù)給予生物素口服20 mg/d,隨訪2年無異常。結論 BTD缺乏癥表現(xiàn)復雜多樣,尿GC/MS及血MS/MS分析可協(xié)助診斷,BTD活性測定及BTD基因檢測可進一步確診此病,及時給予生物素治療療效顯著。
[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.
【作者單位】： 陸軍總醫(yī)院附屬八一兒童醫(yī)院神經發(fā)育科;
【分類號】：R725.8

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