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First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism

Authors :
Nenad Koruga
Silvija Pušeljić
Marko Babić
Mario Ćuk
Andrea Cvitković Roić
Vjenceslav Vrtarić
Anamarija Soldo Koruga
Alen Rončević
Višnja Tomac
Tatjana Rotim
Tajana Turk
Domagoj Kretić
Nora Pušeljić
Rebeka Nađ
Ivana Serdarušić
Source :
Children, Vol 10, Iss 4, p 623 (2023)
Publication Year :
2023
Publisher :
MDPI AG, 2023.

Abstract

Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene. Individuals with this syndrome present with multiple congenital anomalies, as well as a delay in development and intellectual disability. Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha Stimulating (GNAS) gene, which was identified by whole-exome sequencing. Our patient suffered from a large open spinal dysraphism which was treated surgically immediately after birth. During the follow-up, facial dysmorphism, bladder and bowel incontinence, and mildly delayed motor and speech development were observed. Congenital central nervous system disorders were also confirmed radiologically. In this case report, we present our diagnostic and treatment approaches to this patient. To our knowledge, this is the first reported case of Gabriele-de Vries syndrome presenting with spinal dysraphism. Extensive genetic evaluation is the cornerstone in treatment of patients with suspected Gabriele-de Vries syndrome. However, in cases with potentially life-threatening conditions, surgery should be strongly considered.

Details

Language :
English
ISSN :
22279067
Volume :
10
Issue :
4
Database :
Directory of Open Access Journals
Journal :
Children
Publication Type :
Academic Journal
Accession number :
edsdoj.16f492541cda4a989f88f97b2dabf2cb
Document Type :
article
Full Text :
https://doi.org/10.3390/children10040623