Video Experimental Relacionado

Updated: May 5, 2026

High-resolution Structural Magnetic Resonance Imaging of the Human Subcortex In Vivo and Postmortem

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Published on: December 30, 2015

Imagen prenatal seriada de la evolución de la eminencia ganglionar: un caso de variante PDHA1 que demuestra la

Tian Tian^1,2, Huizhu Chen^2,3, Hong Luo^1,2

¹Department of Ultrasound, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Journal of clinical ultrasound : JCU

|February 27, 2026

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.

Palabras clave:

variante PDHA1 disgenesia del cuerpo calloso hipoplasia cerebelosa cavitaciones de la eminencia ganglionar deficiencia del complejo piruvato deshidrogenasa

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