Prenatal diagnosis and genetic discoveries of an intracranial mixed neuronal-glial tumor

Abstract

Background:Congenital intracranial tumors as a group are quite rare, representing only 0.5% to 1.5% of all pediatric brain neoplasms.Case report:We reported a case of congenital mixed neuronal-glial tumor detected by ultrasound at 30 weeks of gestation. It showed that the tumor was 2.5 × 2.3 × 2.1 cm3 in size, located in the sellar region, regular shape, and slightly heterogeneous solid mass with a little cystic component. No color flow was present inside the tumor, but the peripheral encirclement by arterial circle of Willis. No other associated malformations were detected. Prenatal magnetic resonance imaging (MRI) which was taken subsequently confirmed the result of ultrasound and provided more detailed information such as fetal brain dysplasia.The fetal chromosomal karyotype analysis is normal. Single-nucleotide polymorphism (SNP)-based chromosomal microarray analysis (CMA) detected a 0.72-Mb duplication at 4q35.2 in fetus which was associated with epilepsy and cardiac anomalies. It also revealed a 0.13-Mb deletion at 6q26 located in PARK2 gene, and the mutation of the gene is known to be related to autosomal recessive juvenile Parkinson disease.The parents chose termination of pregnancy (TOP). The histological examination showed a mixed neuronal-glial tumor.Conclusion:Prenatal detection of mixed neuronal-glial tumor is very rare. Ultrasound is of critical importance to detect the intracranial tumors, and MRI can give us some detailed information about the tumors. However, the precise histologic type was depended on the pathological examination. CMA should be necessary for the fetuses with congenital intracranial tumors, especially when the fetal chromosomal karyotype analysis is normal.

Preliminary study of fetal HQ in cardiac structure and systolic function of fetal Coarctation of the aorta

“…Compared with the fetuses in the control group, the four-chambered hearts of the fetuses in the CoA group were more spherical, that is, the long diameter was shortened and the transverse diameter was increased, and the difference was statistically signi cant (P < 0.01) (Table 1); There was a statistically signi cant difference in the sphericity index of the left ventricular segment 18-24 (P < 0.05) (Table 2); there was a statistically signi cant difference in the spherical index of the right ventricular segment 8-11 (P < 0.05) (Table 3); Compared with the fetuses in the control group, there were signi cant differences in left ventricular fraction area change and longitudinal strain (P < 0.05); right ventricular fraction area change and longitudinal strain had no statistical difference (P > 0.05) (Table 4); compared with the control group, the left ventricular short-axis shortening rate FS 1-12 segments had statistical differences (P < 0.05) (Table 5); the right ventricular short-axis shortening rate FS 1-4 segments were signi cantly different (P < 0.05) (Table 6). [9][10][11][12][13] . Recent studies have shown that there are still great di culties in the accurate diagnosis of CoA in the fetal period.…”

Discrimination of fetal intracranial mass and hemorrhage via superb microvascular imaging in a case and review of literature

“…At CD and PD, ICH shows no vascularization (10). But although conventional Doppler imaging techniques (CDIT) provides valuable data for evaluating BF, it does not disclose fine vessels and low velocity BF data.…”

Analysis of 3.0 T1H-MRS Image Characteristics of Nasal Polyps

“…Therefore, in the long-term growth process of nasal polyps, due to blocking the ostium of the sinuses or preventing the outflow of secretions from the ostium, it is easy to lead to the degeneration, necrosis or liquefaction of the inside of the sinuses or the polyps themselves due to bacterial infection, and finally form a purulent or mucopurulent abscess like substance. The creatine complex (Cr) contains creatine and phosphoric acid When the energy metabolism of creatine decreases, Cr increases, and the higher the peak value of Cr, the worse the metabolism of brain tissue; Lac is stored in the extracellular and intracellular space, mainly composed of two resonance peaks, which are also called double lines in medical circles; when TE is 288, the double peaks are upward, when TE is 144, the double peaks are downward [1][2][3][4][5][6][7] . In the healthy state, cells are mainly aerobic metabolism, Lac peak is trace or none; the growth block of nasal polyp tissue has an inhibitory effect on cell aerobic respiration, and glycolysis will be strengthened, so Lac peak is increased [6][7][8][9][10] .…”

“…The creatine complex (Cr) contains creatine and phosphoric acid When the energy metabolism of creatine decreases, Cr increases, and the higher the peak value of Cr, the worse the metabolism of brain tissue; Lac is stored in the extracellular and intracellular space, mainly composed of two resonance peaks, which are also called double lines in medical circles; when TE is 288, the double peaks are upward, when TE is 144, the double peaks are downward [1][2][3][4][5][6][7] . In the healthy state, cells are mainly aerobic metabolism, Lac peak is trace or none; the growth block of nasal polyp tissue has an inhibitory effect on cell aerobic respiration, and glycolysis will be strengthened, so Lac peak is increased [6][7][8][9][10] . The degree of necrosis and degeneration of nasal polyps was in direct proportion to the decrease of NAA and the increase of Cho.…”