Late-Onset 22q11.2 Deletion Syndrome With Mild Cardiac Phenotype: A Unique Adult Presentation Diagnosed at 45 Years of Age

Elizondo Plazas, Anasofia y López Uriarte, Graciela Areli y González González, José Gerardo y Rodríguez Gutiérrez, René y Martínez Villarreal, Laura Esther y Treviño Juárez, Ángel Sebastián y González Velázquez, Camilo Daniel (2023) Late-Onset 22q11.2 Deletion Syndrome With Mild Cardiac Phenotype: A Unique Adult Presentation Diagnosed at 45 Years of Age. Cureus. ISSN 2168-8184

Vista previa

Texto
434.pdf - Versión Publicada
Available under License Creative Commons Attribution Non-commercial No Derivatives.
Download (220kB) | Vista previa

URL o página oficial: http://doi.org/10.7759/cureus.50367

Resumen

This case report presents a detailed exploration of an adult-onset 22q11 deletion syndrome, a rare genetic disorder typically diagnosed in children. The report highlights the diagnostic challenges posed by this atypical presentation, emphasizing the need for clinicians to consider such conditions in differential diagnoses, especially in adults. This case is remarkable for its late onset and mild symptoms, which significantly deviated from the common pediatric presentation, including hypocalcemia due to hypoparathyroidism and a fenestrated atrial septal defect without significant hemodynamic implications. The importance of recognizing the broad phenotypic variability of the syndrome and the implications for clinical practice are discussed, providing insights into the genetic and phenotypic diversity of the condition. In conclusion, this case illuminates the diverse clinical spectrum of adult-onset 22q11 deletion syndrome, emphasizing its relevance to clinical practice.

Tipo de elemento:

Article

Palabras claves no controlados:

Defectos del tabique cardíaco, Hipocalcemia, Síndrome de Digeorge, Síndrome de deleción 22q11

Materias:

R Medicina > RC Medicina Interna, Psiquiatría, Neurología

Divisiones:

Medicina

Usuario depositante:

Editor Repositorio

Creadores:

Creador	Email	ORCID
Elizondo Plazas, Anasofia	NO ESPECIFICADO	NO ESPECIFICADO
López Uriarte, Graciela Areli	NO ESPECIFICADO	NO ESPECIFICADO
González González, José Gerardo	gerardo.gonzalezgzz@uanl.edu.mx	orcid.org/0000-0002-6609-9483
Rodríguez Gutiérrez, René	rodriguezgutierrez.rene@mayo.edu	orcid.org/0000-0002-3022-5302
Martínez Villarreal, Laura Esther	NO ESPECIFICADO	NO ESPECIFICADO
Treviño Juárez, Ángel Sebastián	NO ESPECIFICADO	NO ESPECIFICADO
González Velázquez, Camilo Daniel	gzz.camilo@gmail.com	orcid.org/0000-0002-0737-9274