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.
Case Report: Gut and spleen anomalies associated with DYRK1A syndrome / Infantino, I; Tocchioni, F; Ghionzoli, M; Coletta, R; Morini, F; Morabito, A. - In: FRONTIERS IN PEDIATRICS. - ISSN 2296-2360. - ELETTRONICO. - 10:(2023), pp. 936732-936732. [10.3389/fped.2022.936732]
Case Report: Gut and spleen anomalies associated with DYRK1A syndrome
Infantino, I;Tocchioni, F
;Ghionzoli, M;Coletta, R;Morini, F;Morabito, A
2023
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.
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