Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

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

doi:10.3389/fped.2022.936732

Frontiers in Pediatrics (Jan 2023)

Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

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

Affiliations

I. Infantino: Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy
F. Tocchioni: Department of Pediatric and Neonatal Surgery, Meyer Children's Hospital IRCSS, Florence, Italy
M. Ghionzoli: Department of Pediatric and Neonatal Surgery, Meyer Children's Hospital IRCSS, Florence, Italy
R. Coletta: Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy
R. Coletta: Department of Pediatric and Neonatal Surgery, Meyer Children's Hospital IRCSS, Florence, Italy
R. Coletta: School of Health and Society, University of Salford, Salford, United Kingdom
F. Morini: Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy
F. Morini: Department of Pediatric and Neonatal Surgery, Meyer Children's Hospital IRCSS, Florence, Italy
A. Morabito: Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy
A. Morabito: Department of Pediatric and Neonatal Surgery, Meyer Children's Hospital IRCSS, Florence, Italy
A. Morabito: School of Health and Society, University of Salford, Salford, United Kingdom

DOI: https://doi.org/10.3389/fped.2022.936732
Journal volume & issue: Vol. 10

Abstract

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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.

Published in Frontiers in Pediatrics

ISSN: 2296-2360 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: http://journal.frontiersin.org/journal/pediatrics

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