ACTA SCIENTIFIC CLINICAL CASE REPORTS

Case Report Volume 5 Issue 7

The 30th Case of Autosomal Dominant Gabriele-de Vries Syndrome: Diagnosis and Management in a 16-Month-Old Lebanese Boy

Lynn Srour, Khaled Baroudi, Ahmed Saleh, Rouba Shaker, Rena Mokbel, Chadi AL Alam*

Department of Pediatric Neurology Division, American Center for Psychiatry and Neurology, UAE and Haykel Hospital, Lebanon

*Corresponding Author: Chadi AL Alam, Department of Pediatric Neurology Division, American Center for Psychiatry and Neurology, UAE and Haykel Hospital, Lebanon.

Received: April 23, 2024; Published: June 04, 2024

Abstract

Gabriele-de Vries Syndrome (GADEVS) is a rare neurodevelopmental disorder caused by mutations in the YY1 gene, characterized by developmental delays, neurological issues, and various congenital anomalies. We report a case of a 16-month-old boy with GADEVS who exhibited poor sucking in infancy, delayed developmental milestones, central hypotonia, ataxic gait, and speech delay. MRI findings included mild dilation of the lateral ventricles and increased signal intensity in the white matter. Whole exome sequencing identified a heterozygous truncating mutation in the YY1 gene, confirming the diagnosis. This case highlights the importance of genetic testing for accurate diagnosis and underscores the need for a multidisciplinary approach to management, as well as further research to improve understanding and treatment of GADEVS.

Keywords: Gabriele-de Vries Syndrome (GADEVS); Lebanon

References

  1. Sá M J N., et al. “Gabriele-de Vries syndrome”. GeneReviews® - NCBI Bookshelf (2019).
  2. Vissers LE., et al. “A de novo paradigm for mental retardation”. Nature Genetics 42 (2010): 1109-1112.
  3. Yang J., et al. “Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review”. Molecular Genetics and Genomic Medicine 12 (2024): e2281.
  4. Khamirani, HJ., et al. “Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature”. Annals of Human Genetics 86 (2022): 52–62.

Citation

Citation: Chadi AL Alam. “The 30th Case of Autosomal Dominant Gabriele-de Vries Syndrome: Diagnosis and Management in a 16-Month-Old Lebanese Boy".Acta Scientific Clinical Case Reports 5.7 (2024): 04-07.

Copyright

Copyright: © 2024 Chadi AL Alam. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.




Metrics

Acceptance rate32%
Acceptance to publication20-30 days
Impact Factor1.014

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