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Intestinal pseudo-obstruction

MedGen UID:
5864
Concept ID:
C0021847
Disease or Syndrome
Synonym: Hollow visceral myopathy
SNOMED CT: Pseudo-obstruction of intestine (235825006)
 
HPO: HP:0004389
Monarch Initiative: MONDO:0002803

Definition

A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. [from HPO]

Conditions with this feature

Mucopolysaccharidosis, MPS-II
MedGen UID:
7734
Concept ID:
C0026705
Disease or Syndrome
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with early progressive disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the slowly progressing form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepatosplenomegaly; dysostosis multiplex; spinal stenosis; and carpal tunnel syndrome.
Curry-Jones syndrome
MedGen UID:
167083
Concept ID:
C0795915
Disease or Syndrome
Curry-Jones syndrome (CRJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by Twigg et al., 2016).
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
MedGen UID:
375302
Concept ID:
C1843851
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
Visceral neuropathy, familial, 1, autosomal recessive
MedGen UID:
340946
Concept ID:
C1855733
Disease or Syndrome
Autosomal recessive familial visceral neuropathy-1 (VSCN1) is characterized by a broad spectrum of developmental anomalies associating neural crest and extraneural crest features, including intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Some patients develop progressive peripheral neuropathy, and arthrogryposis has been observed. Hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, as well as microtia or anotia, have been reported. Patients also exhibit facial dysmorphisms, including microretrognathia in most; other variable features include structural cardiac anomalies and arthrogryposis with multiple pterygia (Le et al., 2021). Genetic Heterogeneity of Familial Visceral Neuropathy Autosomal recessive familial visceral neuropathy-2 (VSCN2; 619465) is caused by mutation in the ERBB2 gene (164870) on chromosome 17q12. Also see VSCN3 (609629) for an autosomal dominant form of the disorder.
Mungan syndrome
MedGen UID:
369554
Concept ID:
C1969653
Disease or Syndrome
Mungan syndrome (MGS) is characterized by chronic intestinal pseudoobstruction (CIPO), megaduodenum, long-segment Barrett esophagus, and cardiac abnormalities of variable severity (summary by Bonora et al., 2015).
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
MedGen UID:
412536
Concept ID:
C2746068
Disease or Syndrome
FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilation and rupture of the thoracic aortic, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.
Mitochondrial DNA depletion syndrome 4b
MedGen UID:
462264
Concept ID:
C3150914
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
Chronic atrial and intestinal dysrhythmia
MedGen UID:
863911
Concept ID:
C4015474
Disease or Syndrome
Syndrome with characteristics of sick sinus syndrome and intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. The syndrome is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex cohesin. This protein complex helps control the placement of chromosomes during cell division. Research suggests that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause senescence of cells in the intestinal muscle and in the sinoatrial node, resulting in problems maintaining proper rhythmic movements of the heart and intestines.
Mitochondrial DNA depletion syndrome 1
MedGen UID:
1631838
Concept ID:
C4551995
Disease or Syndrome
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years.
Visceral myopathy 1
MedGen UID:
1785391
Concept ID:
C5542197
Disease or Syndrome
ACTG2 visceral myopathy is a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system with phenotypic spectrum that ranges from mild to severe. Bladder involvement can range from neonatal megacystis and megaureter (with its most extreme form of prune belly syndrome) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. Intestinal involvement can range from malrotation, neonatal manifestations of microcolon, megacystis microcolon intestinal hypoperistalsis syndrome, and chronic intestinal pseudoobstruction (CIPO) in neonates at the more severe end to intermittent abdominal distention and functional intestinal obstruction at the milder end. Affected infants (with or without evidence of intestinal malrotation) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood often experience episodic waxing and waning of bowel motility. They may undergo frequent abdominal surgeries (perhaps related to malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition (TPN).
Visceral myopathy 2
MedGen UID:
1783630
Concept ID:
C5543466
Disease or Syndrome
Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth (Dong et al., 2019; Gilbert et al. (2020)).
Mitochondrial DNA depletion syndrome 20 (mngie type)
MedGen UID:
1804209
Concept ID:
C5676934
Disease or Syndrome
Mitochondrial DNA depletion syndrome-20 (MTDPS20) is an autosomal recessive multisystem disorder with variable manifestations and severity. Most patients develop symptoms in childhood, although the onset can range from infancy to the teenage years. Prominent features include severe gastrointestinal dysmotility often requiring parenteral nutrition, neurogenic bladder, and muscle weakness and atrophy. Neurologic involvement manifests as headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline. Brain imaging usually shows diffuse leukoencephalopathy and may show cerebellar atrophy. The disorder results from a defect in the maintenance and repair of mitochondrial DNA, resulting in mtDNA depletion and impaired mitochondrial function (summary by Bonora et al., 2021). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).

Professional guidelines

PubMed

McMahan ZH, Kulkarni S, Chen J, Chen JZ, Xavier RJ, Pasricha PJ, Khanna D
Nat Rev Rheumatol 2023 Mar;19(3):166-181. Epub 2023 Feb 6 doi: 10.1038/s41584-022-00900-6. PMID: 36747090
Downes TJ, Cheruvu MS, Karunaratne TB, De Giorgio R, Farmer AD
J Clin Gastroenterol 2018 Jul;52(6):477-489. doi: 10.1097/MCG.0000000000001047. PMID: 29877952
Thapar N, Saliakellis E, Benninga MA, Borrelli O, Curry J, Faure C, De Giorgio R, Gupte G, Knowles CH, Staiano A, Vandenplas Y, Di Lorenzo C
J Pediatr Gastroenterol Nutr 2018 Jun;66(6):991-1019. doi: 10.1097/MPG.0000000000001982. PMID: 29570554

Recent clinical studies

Etiology

Efremova I, Maslennikov R, Poluektova E, Vasilieva E, Zharikov Y, Suslov A, Letyagina Y, Kozlov E, Levshina A, Ivashkin V
World J Gastroenterol 2023 Jun 14;29(22):3400-3421. doi: 10.3748/wjg.v29.i22.3400. PMID: 37389240Free PMC Article
McMahan ZH, Kulkarni S, Chen J, Chen JZ, Xavier RJ, Pasricha PJ, Khanna D
Nat Rev Rheumatol 2023 Mar;19(3):166-181. Epub 2023 Feb 6 doi: 10.1038/s41584-022-00900-6. PMID: 36747090
Downes TJ, Cheruvu MS, Karunaratne TB, De Giorgio R, Farmer AD
J Clin Gastroenterol 2018 Jul;52(6):477-489. doi: 10.1097/MCG.0000000000001047. PMID: 29877952
Thapar N, Saliakellis E, Benninga MA, Borrelli O, Curry J, Faure C, De Giorgio R, Gupte G, Knowles CH, Staiano A, Vandenplas Y, Di Lorenzo C
J Pediatr Gastroenterol Nutr 2018 Jun;66(6):991-1019. doi: 10.1097/MPG.0000000000001982. PMID: 29570554
Bharucha AE
Best Pract Res Clin Gastroenterol 2007;21(4):709-31. doi: 10.1016/j.bpg.2007.07.001. PMID: 17643910

Diagnosis

Nham S, Nguyen ATM, Holland AJA
Eur J Pediatr 2022 Jul;181(7):2619-2632. Epub 2022 Apr 28 doi: 10.1007/s00431-021-04365-9. PMID: 35482095Free PMC Article
Hashmi SK, Ceron RH, Heuckeroth RO
Am J Physiol Gastrointest Liver Physiol 2021 Jun 1;320(6):G919-G935. Epub 2021 Mar 17 doi: 10.1152/ajpgi.00066.2021. PMID: 33729000Free PMC Article
Zenzeri L, Tambucci R, Quitadamo P, Giorgio V, De Giorgio R, Di Nardo G
Curr Opin Gastroenterol 2020 May;36(3):230-237. doi: 10.1097/MOG.0000000000000630. PMID: 32073506
Downes TJ, Cheruvu MS, Karunaratne TB, De Giorgio R, Farmer AD
J Clin Gastroenterol 2018 Jul;52(6):477-489. doi: 10.1097/MCG.0000000000001047. PMID: 29877952
Thapar N, Saliakellis E, Benninga MA, Borrelli O, Curry J, Faure C, De Giorgio R, Gupte G, Knowles CH, Staiano A, Vandenplas Y, Di Lorenzo C
J Pediatr Gastroenterol Nutr 2018 Jun;66(6):991-1019. doi: 10.1097/MPG.0000000000001982. PMID: 29570554

Therapy

Di Nardo G, Zenzeri L, Guarino M, Molfino A, Parisi P, Barbara G, Stanghellini V, De Giorgio R
Expert Rev Gastroenterol Hepatol 2023 Apr;17(4):325-341. Epub 2023 Mar 26 doi: 10.1080/17474124.2023.2193887. PMID: 36939480
Nham S, Nguyen ATM, Holland AJA
Eur J Pediatr 2022 Jul;181(7):2619-2632. Epub 2022 Apr 28 doi: 10.1007/s00431-021-04365-9. PMID: 35482095Free PMC Article
Wendel D, Cole CR, Cohran VC
Curr Gastroenterol Rep 2021 Apr 15;23(6):8. doi: 10.1007/s11894-021-00807-4. PMID: 33860385
Wattchow D, Heitmann P, Smolilo D, Spencer NJ, Parker D, Hibberd T, Brookes SSJ, Dinning PG, Costa M
Neurogastroenterol Motil 2021 May;33(5):e14046. Epub 2020 Nov 30 doi: 10.1111/nmo.14046. PMID: 33252179
Pironi L, Arends J, Bozzetti F, Cuerda C, Gillanders L, Jeppesen PB, Joly F, Kelly D, Lal S, Staun M, Szczepanek K, Van Gossum A, Wanten G, Schneider SM; Home Artificial Nutrition & Chronic Intestinal Failure Special Interest Group of ESPEN
Clin Nutr 2016 Apr;35(2):247-307. Epub 2016 Feb 8 doi: 10.1016/j.clnu.2016.01.020. PMID: 26944585

Prognosis

Efremova I, Maslennikov R, Poluektova E, Vasilieva E, Zharikov Y, Suslov A, Letyagina Y, Kozlov E, Levshina A, Ivashkin V
World J Gastroenterol 2023 Jun 14;29(22):3400-3421. doi: 10.3748/wjg.v29.i22.3400. PMID: 37389240Free PMC Article
Wattchow D, Heitmann P, Smolilo D, Spencer NJ, Parker D, Hibberd T, Brookes SSJ, Dinning PG, Costa M
Neurogastroenterol Motil 2021 May;33(5):e14046. Epub 2020 Nov 30 doi: 10.1111/nmo.14046. PMID: 33252179
Downes TJ, Cheruvu MS, Karunaratne TB, De Giorgio R, Farmer AD
J Clin Gastroenterol 2018 Jul;52(6):477-489. doi: 10.1097/MCG.0000000000001047. PMID: 29877952
Thapar N, Saliakellis E, Benninga MA, Borrelli O, Curry J, Faure C, De Giorgio R, Gupte G, Knowles CH, Staiano A, Vandenplas Y, Di Lorenzo C
J Pediatr Gastroenterol Nutr 2018 Jun;66(6):991-1019. doi: 10.1097/MPG.0000000000001982. PMID: 29570554
Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M
World J Gastroenterol 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. PMID: 20572300Free PMC Article

Clinical prediction guides

Ng YS, Gorman GS
Handb Clin Neurol 2023;194:65-78. doi: 10.1016/B978-0-12-821751-1.00005-1. PMID: 36813321
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Hashmi SK, Ceron RH, Heuckeroth RO
Am J Physiol Gastrointest Liver Physiol 2021 Jun 1;320(6):G919-G935. Epub 2021 Mar 17 doi: 10.1152/ajpgi.00066.2021. PMID: 33729000Free PMC Article
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article
Downes TJ, Cheruvu MS, Karunaratne TB, De Giorgio R, Farmer AD
J Clin Gastroenterol 2018 Jul;52(6):477-489. doi: 10.1097/MCG.0000000000001047. PMID: 29877952

Recent systematic reviews

Wilkie BD, Noori J, Johnston M, Woods R, Keck JO, Behrenbruch C
ANZ J Surg 2023 Sep;93(9):2086-2091. Epub 2023 May 2 doi: 10.1111/ans.18478. PMID: 37132128
Sakakibara R, Sawai S, Ogata T
Auton Neurosci 2022 Nov;242:103018. Epub 2022 Jul 8 doi: 10.1016/j.autneu.2022.103018. PMID: 35863181
Li Z, Xu D, Wang Z, Wang Y, Zhang S, Li M, Zeng X
Lupus 2017 Oct;26(11):1127-1138. Epub 2017 May 19 doi: 10.1177/0961203317707825. PMID: 28523968
Bellini M, Gambaccini D, Bassotti G
Tech Coloproctol 2016 Jul;20(7):433-6. Epub 2016 May 12 doi: 10.1007/s10151-016-1477-8. PMID: 27174045
Mc Laughlin D, Puri P
Pediatr Surg Int 2013 Sep;29(9):947-51. doi: 10.1007/s00383-013-3357-x. PMID: 23955298

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