ギャングリオーニックエミネンスの進化の連続的な周産期画像診断:代謝性脳損傷の動態を示すPDHA1バリアント症例
Tian Tian1,2, Huizhu Chen2,3, Hong Luo1,2
1Department of Ultrasound, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Abstract:
This report documents the first serial sonographic progression of ganglionic eminence (GE) anomalies in pyruvate dehydrogenase complex deficiency (PDCD) from 12 to 28 weeks. Ultrasound revealed bilateral anterior hypoechoic foci (12 weeks), progressing to solid-cystic GE cavitations (22 weeks) and periventricular germinolysis-type pseudocysts (28 weeks). MRI confirmed concurrent callosal dysgenesis and cerebellar hypoplasia. A pathogenic PDHA1 variant (c.581A>G, p.Y194C) provided definitive molecular diagnosis after exclusion of common etiologies. This continuum serves as an early PDCD imaging indicator, guiding prenatal diagnosis of this lethal disorder.
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