Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

Molecular Genetics and Metabolism Reports
Auriane CospainAlinoë Lavillaureix

Abstract

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 ea...Continue Reading

References

Jan 2, 2009·Pediatrics·Joseph MuenzerUNKNOWN International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I
Dec 15, 2010·European Journal of Human Genetics : EJHG·Sandesh C Sreenath NagamaniSau Wai Cheung
Jul 28, 2011·Pediatric Surgery International·Jan-Hendrik Gosemann, Prem Puri
Sep 24, 2013·American Journal of Human Genetics·Michael O DorschnerGail P Jarvik
Nov 20, 2014·European Journal of Human Genetics : EJHG·Julie GauthierJean-François Soucy
Sep 29, 2015·Journal of Pediatric Surgery·Hideki SohTomoaki Taguchi
Dec 13, 2016·The Journal of Pediatrics·Lorne A ClarkeJoseph Muenzer
Apr 20, 2017·Journal of Pediatric Gastroenterology and Nutrition·Aubrey MilunskyJeff Milunsky
Sep 1, 2017·PloS One·Alícia Dorneles DornellesIda Vanessa Doederlein Schwartz
Nov 2, 2019·Gastroenterology Clinics of North America·Loris Pironi, Anna Simona Sasdelli

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Methods Mentioned

BETA
exome sequencing
enzyme replacement therapy

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