Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan

Soh, Hideki; Fukuzawa, Masahiro; Kubota, Akio; Kawahara, Hiroyuki; Ueno, Takayoshi; Taguchi, Tomoaki

doi:10.1016/j.jpedsurg.2015.08.026

Cited by 27 publications

(15 citation statements)

References 16 publications

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“…In the beginning, the mortality rate was approximately 80%, and about 90% of infants died in their first year of life [11]. However, long-term survival rates have increased to 55.6%, respectively (for patients diagnosed with MMIHS in 2004-2011) [12]. It is associated with the improvement of the management of MMIHS and enhanced treatment standards, in which TPN plays a key role.…”

Section: Discussionmentioning

confidence: 99%

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene

Ignasiak-Budzyńska

Danko

Książyk

2021

Case Reports in Gastrointestinal Medicine

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MMIHS, also known as Berdon’s syndrome, is a rare disease that belongs to primary causes of CIPOS (chronic intestinal pseudoobstruction syndrome). Clinical characteristics of MMIHS are differential, but we come across the following classic symptoms: disorders of intestinal peristalsis, microcolon, and megacystis. In this article, we present a series of 4 patients with Berdon’s syndrome, in whom we managed to identify the genetic causes of MMIHS. All infants showed clinical features of bowel obstruction and dysfunction of the urinary system after birth. Two of them also manifested disorders from other systems. The prognosis for these patients is poor, but a constant betterment of management in MMIHS, in which the leading role plays TPN (total parental nutrition), causes improvement of patients’ survival.

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Section: Discussionmentioning

confidence: 99%

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene

Ignasiak-Budzyńska

Danko

Książyk

2021

Case Reports in Gastrointestinal Medicine

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“…Most common symptoms are abdominal distension, absent or decreased bowel sounds, failure to pass meconium and inability to avoid requiring catheterization. Patients undergo surgical interventions such as enterostomies (gastrostomy, jejunostomy) for nutrition administration and bowel decompression, and total parenteral nutrition can be required due to intestinal failure from intestinal dysmotility [ [21] , [22] , [23] ]. Furthermore, recent studies incriminated dominant MYH11 causal variants in CIPO [ 24 ] and in severe gastrointestinal dysmotility [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

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

Cospain

Dubourg

Gastineau

et al. 2020

Molecular Genetics and Metabolism Reports

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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.

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“…In 2016, Wymer and colleagues identified 135 reported cases , while in 2011, Puri and colleagues had identified 227 reported cases . A nationwide survey in Japan recently identified 28 cases of MMIHS . In 2013, Puri reviewed 47 cases of familial MMIHS .…”

Section: Discussionmentioning

confidence: 99%

Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome

Buinoiu

Panaitescu

Demetrian

et al. 2018

Clinical Case Reports

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Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan

Cited by 27 publications

References 16 publications

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene

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

Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome

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