Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

I Infantino; F Tocchioni; M Ghionzoli; R Coletta; F Morini; A Morabito

doi:10.3389/fped.2022.936732

Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

Front Pediatr. 2023 Jan 18:10:936732. doi: 10.3389/fped.2022.936732. eCollection 2022.

Authors

I Infantino¹, F Tocchioni², M Ghionzoli², R Coletta², F Morini¹, A Morabito¹

Affiliations

¹ Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
² Meyer's Children Hospital, Department of Pediatric Surgery, University of Florence, Florence, Italy.

Abstract

DYRK1A syndrome has been extensively studied primarily with regard to neurologic and other phenotypic features such as skeleton and craniofacial alterations. In the present paper, we aim 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, who was operated upon for spleen torsion with anomalous gut fixation.

Keywords: DYRK1A; gut abnormalities; intestinal obstruction; spleen abnormalities; splenectomy.

Publication types

Case Reports

Grants and funding

The funding of this article has been covered by Meyer's Children Hospital.