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先天性胶质母细胞瘤——出生后产前诊断成为诊断挑战:一例报告

Congenital glioblastoma - prenatal diagnosis becoming a diagnostic challenge after birth: a case report.

作者信息

Maria Orzeł M, Weronika Pruszek K, Beata Borek-Dzięcioł, Ewa Głuszczak-Idziakowska, Bożena Kociszewska-Najman

机构信息

Medical University of Warsaw, Warsaw, Masovian Voivodeship, Poland.

Department of Neonatology and Rare Diseases, Children's Clinical Hospital, University Clinical Centre of the Medical University of Warsaw, Warsaw, Poland.

出版信息

Case Rep Perinat Med. 2023 Sep 4;12(1):20230008. doi: 10.1515/crpm-2023-0008. eCollection 2023 Jan.

Abstract

OBJECTIVES

The incidence of congenital brain tumors is estimated at 1.1-3.6 per 100.000 live births, accounting for 0.5-2 % of all cancers in the pediatric population. Congenital gliomas account for 3.1-8.9 % of all congenital brain tumors and are cancers with a poor prognosis. The rate of stillbirth and death on the first day of life reaches 29 %; 38 % die within the first week, and 56 % die within the first two months. The average length of survival is two years.

CASE PRESENTATION

In the 29th week of pregnancy, a female fetus was diagnosed with intracranial hemorrhage complicated by hydrocephalus. Postnatal brain MRI imaging showed a solid proliferative lesion of the left hemisphere with dilatation of the ventricular system. Brown cerebrospinal fluid was collected during the puncture of the left lateral ventricle to reduce hydrocephalus. No tumor cells were detected by cytology. Due to increasing hydrocephalus, the patient was qualified for Rickham reservoir implantation. On day 27th, a craniotomy was performed to determine the etiology of recurrent prenatal intraventricular bleeding. During surgery, the bleeding mass raised the suspicion of neoplasm-histopathological examination of the retrieved tissue diagnosed WHO stage IV malignant glioma. The patient died at 8 months of age.

CONCLUSIONS

Prenatal diagnosis of an abnormal structure in the fetal brain remains a diagnostic challenge in neonates. Glioblastoma is a rare neoplasm with a poor prognosis.

摘要

目的

先天性脑肿瘤的发病率估计为每10万例活产中有1.1 - 3.6例,占儿科人群所有癌症的0.5% - 2%。先天性胶质瘤占所有先天性脑肿瘤的3.1% - 8.9%,是预后较差的癌症。死产率和出生第一天的死亡率达到29%;38%在第一周内死亡,56%在头两个月内死亡。平均生存期为两年。

病例报告

在妊娠第29周时,一名女胎被诊断为颅内出血并发脑积水。产后脑部MRI成像显示左半球有实性增生性病变,脑室系统扩张。在左外侧脑室穿刺时收集到棕色脑脊液以减轻脑积水。细胞学检查未检测到肿瘤细胞。由于脑积水加重,患者符合植入里克姆贮液器的条件。在第27天,进行了开颅手术以确定复发性产前脑室内出血的病因。手术期间,出血肿块引发了对肿瘤的怀疑——对取出组织的组织病理学检查诊断为世界卫生组织IV级恶性胶质瘤。患者于8个月大时死亡。

结论

胎儿脑内异常结构的产前诊断在新生儿中仍然是一项诊断挑战。胶质母细胞瘤是一种罕见的肿瘤,预后较差。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd91/11616977/4741fceba8f9/j_crpm-2023-0008_fig_001.jpg

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