A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review.

Abstract

RATIONALE:

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare neurodevelopmental disorder caused by loss-of-function variants in the Nuclear Receptor Subfamily 2 Group F Member 1 (NR2F1). Here, we report a case of fetal BBSOAS. The fetus is typically featured by bilateral ventricle widening in the late second trimester, meanwhile, a 7.94-Mb deletion fragment on 5q14.3q15 involving the whole NR2F1 gene was confirmed by copy number variation sequencing (CNV-Seq) combined with karyotyping analysis. Our aim is to provide comprehensive prenatal clinical management strategy for fetal BBSOAS.

PATIENT CONCERNS:

A 29-year-old primipara and her husband were referred to our prenatal diagnosis center due to the widening of bilateral ventricles at 29 + 1 weeks of gestation age.

DIAGNOSES:

Ultrasound revealed the fetal widening posterior horns of bilateral ventricles at the GA of 27 + 3 weeks, 11 mm on the left and 10 mm on the right. At the following 29 + 1 weeks, ultrasound showed the posterior horn of the left lateral ventricle: 12 mm while the width of the right decreased to 9 mm, and intracranial arachnoid cyst. Furthermore, MRI confirmed that intracranial cyst might originate from an enlarged cisterna venae magnae cerebri, with mild dilation of 13.5 mm on the left ventricle. The fetal karyotyping analysis and CNV-Seq detection confirmed a 7.94-Mb deleted fragment on 5q14.3q15 (89340000_97280000) through the amniocentesis at 29 + 4 weeks of GA.

INTERVENTIONS:

The fetus was closely monitored and underwent the following assessment by the multidisciplinary team.

OUTCOMES:

The pregnancy was terminated in the end.

LESSONS:

It is vital to use molecular and cytogenetical detections combined with a dynamic development history to make a definite diagnosis and evaluate the genetic status for the fetuses with BBSOAS.

• Authors: Yu Sun, Lili Guo, Jing Sha, Huimin Tao, Xuezhen Wang, Ying Liu, Jingfang Zhai, Jiebin Wu, Yongxiu Zhao
• Journal: Medicine (Medicine (Baltimore)) Vol. 101 Issue 40 Pg. e30558 (Oct 07 2022) ISSN: 1536-5964 [Electronic] United States
• PMID: 36221391 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

Chemical References

• COUP Transcription Factor I

Topics

• Adult
• COUP Transcription Factor I (genetics)
• DNA Copy Number Variations
• Female
• Fetus
• Heart Ventricles
• Humans
• Intellectual Disability (diagnosis, genetics)
• Optic Atrophies, Hereditary (genetics)
• Optic Atrophy (genetics)
• Pregnancy
• Ultrasonography, Prenatal