HSD17B4基因突变致D-双功能蛋白缺乏症

D-bifunctional protein deficiency caused by HSD17B4 gene mutation in a neonate

15 d男性患儿,因反复抽搐14 d入院。主要临床表现为难治性癫痫发作、反应差、喂养困难、四肢肌张力低、双侧听力受损,神经电生理表现为双侧脑干听觉诱发电位减弱及脑电图爆发-抑制图形,血清极长链脂肪酸提示二十六烷酸显著增高,基因检测提示HSD17B4基因c.101C>T(p.Ala34Val),c.14481460del(p.Ala483Aspfs*37)复合杂合突变。该文报道1例HSD17B4基因突变所致D-双功能蛋白缺乏症,对该病流行病学、临床特征及诊疗进行归纳总结,重点关注与大田原综合征的鉴别,为该病早期诊断提供了参考依据。

A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days.The main clinical manifestations were uncontrolled seizures,hypoergia,feeding difficulties,limb hypotonia,and bilateral hearing impairment.Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burstsuppression pattern on electroencephalogram.Measurement of very-long-chain fatty acids in serum showed that C26:0 was significantly increased.Genetic testing showed a pathogenic compound heterozygous mutation,c.101 C>T(p.Ala34 Val)and c.14481460 del(p.Ala483 Aspfs*37),in the HSD17 B4 gene.This article reports a case of D-bifunctional protein deficiency caused by HSD17 B4 gene mutation and summarizes the epidemiological and clinical features,diagnosis,and treatment of this disease,with a focus on the differential diagnosis of this disease from Ohtahara syndrome.