中英JAMA4H综合征4

Awomaninher30swithintellectualdisability,primaryamenorrhoea,andfocalseizures(Figure,A)described2yearsofprogressivebalancedifficulties.Onexamination,shehadshortstature(1.45m),cerebellarataxia,andavisualacuityof6/60OU.T2-weightedmagneticresonanceimagingshowedseverecerebellaratrophy,anatrophiccorpuscallosum,andpatchysignalchangeinthecoronaradiatasuggestiveofhypomyelination(Figure,B).

30余岁女性，智力障碍，原发性闭经合并局灶性癫痫发作（图A），近2年出现进行性平衡障碍。查体：身材矮小（1.45m），小脑性共济失调，双眼视力6/60。磁共振T2成像显示严重的小脑萎缩、胼胝体萎缩，放射冠斑片状信号改变，提示脱髓鞘形成不良（图B）。

Giventheclinicalfeatures,adiagnosisof4Hsyndrome(hypomyelination,hypodontia,andhypogonadotrophichypogonadism)wasconsidered.GeneticsequencingofPOLR3Bidentified