Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

被引：0
|
作者：
Infantino, I. [1 ]
Tocchioni, F. [2 ]
Ghionzoli, M. [2 ]
Coletta, R. [2 ]
Morini, F. [1 ]
Morabito, A. [1 ]
机构：
[1] Univ Florence, Dept Neurosci Psychol Drug Res & Child Hlth NEUROF, Florence, Italy
[2] Univ Florence, Meyers Children Hosp, Dept Pediat Surg, Florence, Italy
来源：
FRONTIERS IN PEDIATRICS | 2023年 / 10卷
关键词：
spleen abnormalities; gut abnormalities; DYRK1A; intestinal obstruction; splenectomy; INTELLECTUAL DISABILITY; EXPRESSION; MUTATIONS;
D O I：
10.3389/fped.2022.936732
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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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页数：4
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