Iranian Journal of Neonatology

Iranian Journal of Neonatology

Radio-Tartaglia Syndrome: A Rare Cause of Delay in Neurodevelopment – A Case Report

Document Type : Case Report

Authors
Maria Ximena Arteaga Pichardo 1
Felipe Bernate 1
Juan Felipe Trujillo Angel 1
Maria Camila Santana Alba 1
Maria Paola Lubo 1
Natalia Avellaneda Perdigon 1
Lev Bladimir Ramirez 1
Daniel Jimenez 1
Sofia Atuesta Escobar 1
Isabel Fernandez Gonzalez 2
Luis Gustavo Celis Regalado 3
1 Research Organization in Cellular Therapy and Metabolism, Facultad de Medicina, Universidad de La Sabana, Chía, Cundinamarca.
2 Medical Genetics Unit, Metropolitan Polyclinic, Caracas, Venezuela
3 Universidad de la Sabana, School of Medicine, Colombia.
10.22038/ijn.2024.76155.2473
Abstract
Background: Radio-Tartaglia syndrome or RATARS is an unfamiliar disease caused by a heterozygous mutation of the SPEN gen in the 1p36 chromosome. Clinically, it is represented by global developmental delay and intellectual disability; however, it can also be associated with other relevant comorbidities that embark on the cardiovascular, gastrointestinal, musculoskeletal, integumentary as well as endocrinological systems.
Case Report: A 3-year-old pediatric male patient from Venezuela is referred to genetic counseling due to neurodevelopmental delay, microcephaly and dysmorphisms. The initial diagnostic impression consisted of Williams syndrome. Further studies revealed mild supravalvular stenosis, but no important changes in brain imaging or laboratory analysis. The patient’s diagnosis was later replaced with RATARS after a complete exome sequencing revealed heterozygous SPEN pathogenic genes.
Conclusion: The diagnostic process of RATARS must become a pillar of further investigation given its uncertainty when clinically diagnosed hence the necessity of a clear confirmation through exome sequencing. This case report highlights the importance of genetic testing in patients with neurodevelopmental delay due to a possible but uncommon correlation with rare diseases such as RATARS.
 
Keywords
1p36 gen
Neurodevelopment
RATARS
Radio-Tartaglia syndrome
SPEN
Williams syndrome
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Iranian Journal of Neonatology
Volume 15, Issue 3
Summer 2024
Pages 60-64