本文選題：神經(jīng)節(jié)苷脂累積病　切入點(diǎn)：Sandhoff病　出處：《臨床兒科雜志》2017年09期

【摘要】：目的探討嬰兒型Sandhoff病的臨床表現(xiàn)、診斷及治療。方法回顧分析1例嬰兒型Sandhoff病患兒的臨床資料,并復(fù)習(xí)相關(guān)文獻(xiàn)。結(jié)果 1歲2個(gè)月女性患兒,有神經(jīng)運(yùn)動(dòng)發(fā)育倒退、頑固性抽搐;父母為近親婚配;眼底鏡檢查見(jiàn)眼底紅斑;頭顱磁共振成像示左側(cè)腦橋可見(jiàn)一小點(diǎn)狀長(zhǎng)T 2等T1異常信號(hào)影,腦白質(zhì)水腫、彌漫性脫髓鞘改變;染色體核型未見(jiàn)異常;染色體微陣列提示多條染色體發(fā)生大片段純合子;二代基因測(cè)序提示HEXB基因外顯子11存在c.1263_1268del TGAAGT:P.(Glu422_Val423del)缺失突變及內(nèi)含子13存在c.1614_2AG:P?剪切突變,父母各攜其一。白細(xì)胞Hex A、Hex AHex B酶活性分別為84、112 nmol/(mg·h);確診為嬰兒型Sandhoff病。治療采用丙戊酸鈉、左乙拉西坦聯(lián)合抗癲癇及糖皮質(zhì)激素,患兒抽搐發(fā)作次數(shù)逐漸減少,反應(yīng)較前好轉(zhuǎn);隨訪5個(gè)月,病情平穩(wěn)無(wú)進(jìn)展,無(wú)抽搐發(fā)作�；純耗赣H再次妊娠,并于孕21+6周時(shí)行羊水穿刺檢查,結(jié)果提示胎兒與患兒存在相同的突變。結(jié)論 Sandhoff病是一種罕見(jiàn)的遺傳性溶酶體病,主要表現(xiàn)為進(jìn)行性神經(jīng)功能損害,目前缺乏有效的治療方法,基因檢測(cè)有助確診及產(chǎn)前診斷。
[Abstract]:Objective to investigate the clinical manifestations, diagnosis and treatment of infant Sandhoff disease.Methods A case of infantile Sandhoff's disease was retrospectively analyzed and the related literature was reviewed.Results 1 year and 2 months old female children had neuromotor retrogression, intractable convulsions; parents were close relatives; fundus erythema was detected by fundus endoscopy; brain magnetic resonance imaging showed a small dot long T 2 T 1 abnormal signal on left pons.White matter edema, diffuse demyelinating change, no abnormal karyotype, chromosome microarray suggesting large segment homozygote in multiple chromosomes;The second generation gene sequencing suggested that exon 11 of HEXB gene had c.1263_1268del TGA GTP.N Glu422 / Val 423del deletion mutation and intron 13 had c. 1614 2 G: P?Shear mutation, parents with one.The activity of Hex AHex B in leukocytes was 84112 nmol/(mg / h, respectively, and was diagnosed as infantile Sandhoff disease.The children were treated with sodium valproate, levoethoxetam combined with antiepileptic and glucocorticoid.The mother was pregnant again and amniocentesis was performed at 21.6 weeks. The results showed that the fetus had the same mutation as the baby.Conclusion Sandhoff's disease is a rare hereditary lysosomal disease, which is characterized by progressive neurological impairment. At present, there is a lack of effective treatment. Gene detection is helpful for diagnosis and prenatal diagnosis.
【作者單位】： 中山大學(xué)孫逸仙紀(jì)念醫(yī)院兒科;
【基金】：廣東省自然基金博士啟動(dòng)項(xiàng)目(No.2015A030310047)
【分類(lèi)號(hào)】：R725.9

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