Ahuja Kanya, Pathania Shivany, Baron Nicole, Khlevner Julie, Bialer Martin, Mait-Kaufman Jennifer
Pediatric Gastroenterology, Liver Disease and Nutrition Cohen Children's Medical Center New York New York USA.
Pediatric Gastroenterology, Hepatology and Nutrition Charleston Area Medical Center/West Virginia University-Charleston Charleston West Virginia USA.
JPGN Rep. 2025 Feb 19;6(2):162-165. doi: 10.1002/jpr3.12158. eCollection 2025 May.
Pediatric intestinal pseudo-obstruction (PIPO) is a rare and severe disorder of gastrointestinal (GI) motility; patients with PIPO display signs and symptoms of intestinal obstruction in the absence of occluding lesions. Chronic atrial and intestinal dysrhythmia (CAID) syndrome is an exceedingly rare autosomal recessive disorder caused by mutations in the SGO1 gene; SGO1 mutations disrupt the cohesin complex, a protein involved in chromosome organization during cell division and hence, DNA stability. CAID leads to both GI and cardiac dysfunction. This case report highlights an exceptional instance of early-onset pediatric CAID marked by recurrent pseudo-obstruction and, notably, developmental delay, which has not been previously described. The case emphasizes the importance of genetic evaluation in pediatric patients with unexplained pseudo-obstruction, and the importance of multidisciplinary management.
小儿肠假性梗阻（PIPO）是一种罕见且严重的胃肠动力障碍性疾病；PIPO患者在没有阻塞性病变的情况下表现出肠梗阻的体征和症状。慢性心房和肠道心律失常（CAID）综合征是一种极其罕见的常染色体隐性疾病，由SGO1基因突变引起；SGO1突变会破坏黏连蛋白复合体，该蛋白在细胞分裂过程中参与染色体组织，进而影响DNA稳定性。CAID会导致胃肠和心脏功能障碍。本病例报告突出了一例早发性小儿CAID的特殊病例，其特征为反复出现假性梗阻，尤其是发育迟缓，此前未曾有过相关描述。该病例强调了对不明原因假性梗阻的小儿患者进行基因评估的重要性，以及多学科管理的重要性。
