婴儿型Sandhoff病1例报告并文献复习

发布时间：2018-04-04 18:35

本文选题：神经节苷脂累积病　切入点：Sandhoff病　出处：《临床儿科杂志》2017年09期

【摘要】：目的探讨婴儿型Sandhoff病的临床表现、诊断及治疗。方法回顾分析1例婴儿型Sandhoff病患儿的临床资料,并复习相关文献。结果 1岁2个月女性患儿,有神经运动发育倒退、顽固性抽搐;父母为近亲婚配;眼底镜检查见眼底红斑;头颅磁共振成像示左侧脑桥可见一小点状长T 2等T1异常信号影,脑白质水肿、弥漫性脱髓鞘改变;染色体核型未见异常;染色体微阵列提示多条染色体发生大片段纯合子;二代基因测序提示HEXB基因外显子11存在c.1263_1268del TGAAGT:P.(Glu422_Val423del)缺失突变及内含子13存在c.1614_2AG:P?剪切突变,父母各携其一。白细胞Hex A、Hex AHex B酶活性分别为84、112 nmol/(mg·h);确诊为婴儿型Sandhoff病。治疗采用丙戊酸钠、左乙拉西坦联合抗癫痫及糖皮质激素,患儿抽搐发作次数逐渐减少,反应较前好转;随访5个月,病情平稳无进展,无抽搐发作。患儿母亲再次妊娠,并于孕21+6周时行羊水穿刺检查,结果提示胎儿与患儿存在相同的突变。结论 Sandhoff病是一种罕见的遗传性溶酶体病,主要表现为进行性神经功能损害,目前缺乏有效的治疗方法,基因检测有助确诊及产前诊断。
[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.
【作者单位】：中山大学孙逸仙纪念医院儿科;
【基金】：广东省自然基金博士启动项目(No.2015A030310047)
【分类号】：R725.9

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