RADIO-TARTAGLIA SYNDROME: A RARE CAUSE OF DELAY IN NEURODEVELOPMENT – A CASE REPORT

Document Type : Case Report

Authors

1 School of Medicine Universidad de la Sabana, Colombia

2 Universidad de la SabanaSchool of Medicine Universidad de la Sabana, Colombia

3 Medical Genetics Unit. Metropolitan Polyclinic, Caracas, Venezuela

10.22038/ijn.2024.76155.2473

Abstract

Background: Radio-Tartaglia syndrome or RATARS is an unfamiliar disease caused by an 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 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 nor laboratory analysis. The patient’s diagnosis was later replaced for 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

Iranian Journal of Neonatology

Articles in Press, Accepted Manuscript
Available Online from 18 April 2024

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