سامانه مدیریت نشریات علمی دانشگاه علوم پزشکی مشهد

Arteaga Pichardo, Maria, Bernate, Felipe, Trujillo Angel, Juan, Santana Alba, Maria, Lubo, Maria, Avellaneda Perdigon, Natalia, Bladimir Ramirez, Lev, Jimenez, Daniel, Atuesta Escobar, Sofia, Fernandez Gonzalez, Isabel, Celis Regalado, Luis. (1403). Radio-Tartaglia Syndrome: A Rare Cause of Delay in Neurodevelopment – A Case Report. , 15(3), 60-64. doi: 10.22038/ijn.2024.76155.2473
Maria Ximena Arteaga Pichardo; Felipe Bernate; Juan Felipe Trujillo Angel; Maria Camila Santana Alba; Maria Paola Lubo; Natalia Avellaneda Perdigon; Lev Bladimir Ramirez; Daniel Jimenez; Sofia Atuesta Escobar; Isabel Fernandez Gonzalez; Luis Gustavo Celis Regalado. "Radio-Tartaglia Syndrome: A Rare Cause of Delay in Neurodevelopment – A Case Report". , 15, 3, 1403, 60-64. doi: 10.22038/ijn.2024.76155.2473
Arteaga Pichardo, Maria, Bernate, Felipe, Trujillo Angel, Juan, Santana Alba, Maria, Lubo, Maria, Avellaneda Perdigon, Natalia, Bladimir Ramirez, Lev, Jimenez, Daniel, Atuesta Escobar, Sofia, Fernandez Gonzalez, Isabel, Celis Regalado, Luis. (1403). 'Radio-Tartaglia Syndrome: A Rare Cause of Delay in Neurodevelopment – A Case Report', , 15(3), pp. 60-64. doi: 10.22038/ijn.2024.76155.2473
Arteaga Pichardo, Maria, Bernate, Felipe, Trujillo Angel, Juan, Santana Alba, Maria, Lubo, Maria, Avellaneda Perdigon, Natalia, Bladimir Ramirez, Lev, Jimenez, Daniel, Atuesta Escobar, Sofia, Fernandez Gonzalez, Isabel, Celis Regalado, Luis. Radio-Tartaglia Syndrome: A Rare Cause of Delay in Neurodevelopment – A Case Report. , 1403; 15(3): 60-64. doi: 10.22038/ijn.2024.76155.2473

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

Iranian Journal of Neonatology
دوره 15، شماره 3، مهر 2024، صفحه 60-64    اصل مقاله (574.75 K)
نوع مقاله: Case Report
شناسه دیجیتال (DOI): 10.22038/ijn.2024.76155.2473
نویسندگان
Maria Ximena Arteaga Pichardo* 1؛ Felipe Bernate1؛ Juan Felipe Trujillo Angel1؛ Maria Camila Santana Alba1؛ Maria Paola Lubo1؛ Natalia Avellaneda Perdigon1؛ Lev Bladimir Ramirez1؛ Daniel Jimenez1؛ Sofia Atuesta Escobar1؛ Isabel Fernandez Gonzalez2؛ Luis Gustavo Celis Regalado3
1Research Organization in Cellular Therapy and Metabolism, Facultad de Medicina, Universidad de La Sabana, Chía, Cundinamarca.
2Medical Genetics Unit, Metropolitan Polyclinic, Caracas, Venezuela
3Universidad de la Sabana, School of Medicine, Colombia.
چکیده
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.
 
کلیدواژه‌ها
1p36 gen؛ Neurodevelopment؛ RATARS؛ Radio-Tartaglia syndrome؛ SPEN؛ Williams syndrome
مراجع
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