Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several genes are known to be responsible for this pathology, including ACTG2 (autosomal dominant) and MYH11 (autosomal recessive).

We report the first case of unexpected trio medical exome sequencing diagnosis of mucopolysaccharidosis type I (MPS-I) in a patient with an early CIPO. There was no clinical suspicion of MPS-I at the time of the prescription. It allowed biochemical confirmation of MPS-I, expert clinical evaluation and early treatment. Enzyme replacement therapy (ERT) with laronidase was started at 9 months old, and hematopoietic stem cell transplantation was carried out at 10 months and a half. The patient also had a 1.7 mb heterozygous deletion in chromosomal region 16p13.11p12.3, comprising several genes, including MYH11, paternally inherited. Her father has no symptoms of CIPO or other digestive symptoms. One previous association of CIPO and MPS-I was reported in 1986. Moreover, the number of incidental findings of inherited metabolic disorders with therapeutic impact will inevitably increase as pangenomic analyses become cheaper and easily available.

慢性肠假性梗阻（CIPO）是肠动力障碍的一种严重形式，患者经常进行反复的腹部手术，需要肠胃外营养。几个基因是已知的负责该病理学，包括ACTG2（常染色体显性）和MYH11（常染色体隐性）。

我们报告了第一例意外的三重医学外显子组测序诊断为I型粘多糖贮积病（MPS-I）的患者，该患者患有早期CIPO。开处方时没有临床怀疑MPS-1。它允许对MPS-I进行生化确认，专家临床评估和早期治疗。在9个月大时开始使用Laronidase进行酶替代治疗（ERT），并在10个月半时进行造血干细胞移植。该患者在染色体区域16p13.11p12.3中还有一个1.7 mb的杂合缺失，该区域包含多个基因，包括MYH11，父系继承。她的父亲没有CIPO症状或其他消化系统症状。早在1986年就报道了CIPO与MPS-1的关联。此外，随着泛基因组学分析变得更便宜且更容易获得，具有治疗效果的遗传性代谢疾病的偶然发现数量将不可避免地增加。