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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2023; 10(01): 046-048
DOI: 10.1055/s-0043-57022
Case Report

Congenital Cataract and Narrow CSP: A Clue to Prenatal Diagnosis of RAB3GAP1-Associated Warburg Micro Syndrome

Meenakshi Lallar
1   Prime Institute of Prenatal Imaging and Diagnostics, Chandigarh, India
,
Ladbans Kaur
1   Prime Institute of Prenatal Imaging and Diagnostics, Chandigarh, India
,
Meetan Preet
1   Prime Institute of Prenatal Imaging and Diagnostics, Chandigarh, India
,
U. P. Singh 
1   Prime Institute of Prenatal Imaging and Diagnostics, Chandigarh, India
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Abstract

Warburg Micro Syndrome (WMS) is an autosomal recessive disorder characterized by intellectual disability, bilateral congenital cataracts, microphthalmia, and brain anomalies. We report an 18-week fetus presenting with bilateral congenital cataract and narrow cavum septum pellucidum. Patient was counselled about the possible etiologies ranging from infectious to chromosomal and single gene etiologies. Invasive testing for genetic analysis was done to determine etiology and establish prognosis. A previously reported homozygous frameshift mutation was identified in RAB3GAP1 gene leading to diagnosis of WMS. This case highlights the role of detailed fetal sonography and genetic testing to prognosticate pregnancies. Also WMS should be suspected in fetuses presenting with bilateral congenital cataract with or without brain anomalies.

Keywords

cavum septum pellucidum - autosomal recessive - congenital cataract - genetic testing - Warburg micro syndrome


Publication History

Article published online:
12 May 2023

© 2023. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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