阵发性哭闹伴运动倒退2月余

Paroxysmal crying and motor regression for more than two months in an infant

患儿,男,4.5月龄发病,表现为易激惹、运动倒退、角弓反张样姿势。头颅MRI示双侧豆状核、丘脑、中脑、小脑半球对称性异常信号。基因检测发现患儿SLC19A3基因存在复合杂合突变:c.950G>A(p.G317E)和c.962C>T(p.A321V),前者遗传自父亲,后者遗传自母亲。生物信息学分析提示两者均为有害突变。予生物素、硫胺素和"鸡尾酒疗法"治疗后病情好转,1月后头颅MRI示病变显著改善。该患儿最终确诊为生物素-硫胺素反应性基底节病(BTBGD)。BTBGD是一种可治性的常染色体隐性遗传性疾病,早期应用硫胺素、生物素治疗可获得满意的疗效。

The patient was a male who was found to be abnormal at the age of 4.5 months. He presented with irritability, motor regression and opisthotonus. Brain MRI revealed bilateral abnormality in the lentiform nucleus,thalamus, deutocerebrum and cerebellar hemispheres. Novel compound heterozygous mutations of SLC19 A3 gene,c.950 G>A(p.G317 E) and c.962 C>T(p.A321 V), were found in the patient. Further study showed that c.950 G>A was inherited from his father and c.962 C>T came from his mother. Using bioinformatics software analysis, both of the mutations were found to be harmful. His symptoms were improved remarkably after biotin, thiamine and 'cocktail'therapy. One month later a brain MRI revealed that the lesions in basal ganglia and cerebellar hemispheres were improved. The patient was definitely diagnosed with biotin-thiamine responsive basal ganglia disease(BTBGD).BTBGD is a treatable autosomal recessive disease and early administration of biotin and thiamine may lead to clinical improvement.