AUTHOR=Infantino I. , Tocchioni F. , Ghionzoli M. , Coletta R. , Morini F. , Morabito A. 

TITLE=Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 10 - 2022

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.936732

DOI=10.3389/fped.2022.936732

ISSN=2296-2360

ABSTRACT=DYRK1A syndrome has been extensively studied mainly concerning neurologic and other phenotypic features such as skeleton and craniofacial alterations.  In the present paper we want to highlight unusual anomalies associated with a DYRK1A mutation: a 17 year old female patient with language and cognitive delay, microcephaly and an autistic disorder which was operated on for spleen torsion with anomalous gut fixation.