Li Yuye,Cong Lining,Li Yulou,et al.Mucopolysaccharidosis type Ⅰ complicated with abdominal hernia and extensive Mongolian spots:a report of three cases[J].Journal of Clinical Pediatric Surgery,2023,22(03):288-290.[doi:10.3760/cma.j.cn101785-202202058-016]
儿童黏多糖贮积症Ⅰ型合并腹外疝及泛发型蒙古斑3例
- Title:
- Mucopolysaccharidosis type Ⅰ complicated with abdominal hernia and extensive Mongolian spots:a report of three cases
- 摘要:
- 黏多糖贮积症Ⅰ型（Mucopolysaccharidosis typeⅠ,MPSⅠ）是一种罕见的遗传代谢性疾病，临床表现多样，腹外疝及泛发型蒙古斑均是MPS Ⅰ较常见的临床表现，但由于MPS Ⅰ的罕见性，临床诊疗过程中往往忽视腹外疝合并泛发型蒙古斑对MPS Ⅰ的提示意义。迄今为止，国内未见儿童MPS Ⅰ合并腹外疝及泛发型蒙古斑的报道。本文报道3例MPS Ⅰ合并腹外疝及泛发型蒙古斑患儿的诊疗经验。
参考文献/References:
[1] 戴阳丽,朱铭强,邹朝春.黏多糖贮积症Ⅰ型的研究现状及进展[J].中华内分泌代谢杂志,2021,37(4):306-310.DOI:10.3760/cma.j.cn311282-20201214-00824. Dai YL,Zhu MQ,Zou ZC.Current researches and recent advances of mucopolysaccharidosis type Ⅰ[J].Chin J Endocrinol Metab,2021,37(4):306-310.DOI:10.3760/cma.j.cn311282-20201214-00824.
[2] Arn P,Wraith JE,Underhill L.Characterization of surgical procedures in patients with mucopolysaccharidosis type I:findings from the MPS I Registry[J].J Pediatr,2009,154(6):859-64.e3.DOI:10.1016/j.jpeds.2008.12.024.
[3] Kolbe V,Boy D,Büttner A.Mongolian spots-a challenging clinical sign[J].Forensic Sci Int,2021,327:110964.DOI:10.1016/j.forsciint.2021.110964.
[4] Chuang CK,Lin HY,Wang TJ,et al.Status of newborn screening and follow up investigations for mucopolysaccharidoses I and II in Taiwan[J].Orphanet J Rare Dis,2018,13(1):84.DOI:10.1186/s13023-018-0816-4.
[5] Colmenares-Bonilla D,Colin-Gonzalez C,Gonzalez-Segoviano A,et al.Diagnosis of mucopolysaccharidosis based on history and clinical features:evidence from the Bajio region of Mexico[J].Cureus,2018,10(11):e3617.DOI:10.7759/cureus.3617.
[6] Schmidt M,Breyer S,L?bel U,et al.Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation[J].Orphanet J Rare Dis,2016,11(1):93.DOI:10.1186/s13023-016-0470-7.
[7] Techasatian L,Sanaphay V,Paopongsawan P,et al.Neonatal birthmarks:a prospective survey in 1000 neonates[J].Glob Pediatr Health,2019,6:2333794X19835668.DOI:10.1177/2333794X19835668.
[8] Weissbluth M,Esterly NB,Caro WA.Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots[J].Br J Dermatol,1981,104(2):195-200.DOI:10.1111/j.1365-2133.1981.tb00045.x.
[9] Ochiai T,Suzuki Y,Kato T,et al.Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome):a survey among 52 Japanese patients[J].J Eur Acad Dermatol Venereol,2007,21(8):1082-1085.DOI:10.1111/j.1468-3083.2007.02203.x.
[10] 莫智峰,何汉忠,张焯荣,等.腹腔镜下个体化处置疝囊治疗小儿腹股沟斜疝的应用体会[J].临床小儿外科杂志,2020,19(12):1130-1134.DOI:10.3969/j.issn.1671-6353.2020.12.013. Mo ZF,He HZ,Zhang ZR,et al.Application of individualized laparoscopy for oblique inguinal hernia based upon the classification of internal ring in children[J].J Clin Ped Sur,2020,19(12):1130-1134.DOI:10.3969/j.issn.1671-6353.2020.12.013.
[11] Kubaski F,de Oliveira Poswar F,Michelin-Tirelli K,et al.Mucopolysaccharidosis type I[J].Diagnostics (Basel),2020,10(3):161.DOI:10.3390/diagnostics10030161.
[12] Muenzer J,Wraith JE,Clarke LA,et al.Mucopolysaccharidosis I:management and treatment guidelines[J].Pediatrics,2009,123(1):19-29.DOI:10.1542/peds.2008-0416.
备注/Memo
收稿日期:2021-12-15。
基金项目:河北省医学科学研究重点课题计划（20200660）
通讯作者:丛力宁,Email:conglin3744@sina.com