Cospain Auriane, Dubourg Christèle, Gastineau Swellen, Pichard Samia, Gandemer Virginie, Bonneau Jacinthe, de Tayrac Marie, Moreau Caroline, Odent Sylvie, Pasquier Laurent, Damaj Lena, Lavillaureix Alinoë
CHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France.
Univ Rennes, CNRS, IGDR, UMR 6290, Rennes F-35000, France.
Mol Genet Metab Rep. 2020 Jul 7;24:100621. doi: 10.1016/j.ymgmr.2020.100621. eCollection 2020 Sep.
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 (autosomal dominant) and (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 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.
慢性肠道假性梗阻（CIPO）是一种严重的肠道运动障碍形式，患者常需反复接受腹部手术并需要肠外营养。已知有几个基因与这种病理状况有关，包括（常染色体显性）和（常染色体隐性）。我们报告了首例在早期CIPO患者中通过三联体医学外显子组测序意外诊断出I型黏多糖贮积症（MPS-I）的病例。在开具处方时，临床并未怀疑MPS-I。这使得能够对MPS-I进行生化确诊、专家临床评估及早期治疗。9个月大时开始使用拉罗尼酶进行酶替代疗法（ERT），10个半月时进行了造血干细胞移植。该患者在染色体区域16p13.11p12.3还存在一个1.7兆碱基的杂合缺失，其中包含几个基因，包括父系遗传的基因。她的父亲没有CIPO症状或其他消化症状。1986年曾报道过1例CIPO与MPS-I的关联病例。此外，随着泛基因组分析变得更便宜且易于获得，具有治疗意义的遗传性代谢疾病偶然发现的数量将不可避免地增加。
