Prenatal diagnosis of pyruvate dehydrogenase E1-α deficiency: a case report / 中华围产医学杂志

This article reported a case of pyruvate dehydrogenase E1-α deficiency suggested by abnormal brain development during prenatal ultrasound imaging. Prenatal ultrasound revealed a mild enlargement of bilateral cerebral ventricles and the possibility of intracranial hemorrhage in the fetus at 25 +1 weeks of gestation. MRI showed the fetus with absent corpus callosum, enlarged bilateral cerebral ventricles and paraventricular cysts. After genetic counseling and careful consideration, the couple opted for pregnancy termination. To clarify the cause of the disease, whole-exome sequencing was performed on the fetal skin to detect possible variants, and which revealed a frameshift mutation c.924_930dup(p.R311Gfs*5) in exon 10 of the PDHA1 gene. Sanger sequencing confirmed the mutation was a de novo pathogenic variant, indicating that the fetus was affected by pyruvate dehydrogenase E1-α deficiency.

Clinical application of MRI in the diagnosis of oblique vaginal septum syndrome / 实用放射学杂志

Objective To investigate the clinical value of MRI in the diagnosis of oblique vaginal septum syndrome(OVSS),and to improve the diagnostic level for this disease.Methods Clinical and imaging data of 8 patients (7 adolescent females and 1 female in fertility period)with vaginal septum syndrome were analyzed retrospectively.All participants were evaluated by ultrasound examination before MRI scanning,and 1 of them underwent enhanced MRI scan.Results Among the 8 patients with OVSS,the main findings of MRI includes uterine deformity (4 double uterus,3 mediastinal uterus,1 double angle uterus with uterine septum),oblique vaginal septum (7 right oblique septum and 1 left oblique septum).All subjects presented with ipsilateral renal agenesis,and 4 patients with endometriosis,1 patient with ureteral distortion and ectopic opening and 1 patient with double inferior vena cava.6 patients suffered with hemorrhage in the posterior chamber of oblique septum and 2 patients with empyema.Hemorrhage in the contralateral vagina were observed in 3 cases,while no significant abnormality was found in other 5 cases.Conclusion MRI scan has an important clinical value on the diagnosis of OVSS and can provide crucial information for the optimal individual treatment.