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Abnormal enteric ganglion morphology

MedGen UID:
927580
Concept ID:
C4293671
Anatomical Abnormality
Synonyms: Abnormality of enteric ganglion morphology; Abnormality of the enteric ganglia
 
HPO: HP:0004362

Definition

An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow. [from HPO]

Conditions with this feature

Mowat-Wilson syndrome
MedGen UID:
341067
Concept ID:
C1856113
Disease or Syndrome
Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.
Hirschsprung disease, susceptibility to, 1
MedGen UID:
854827
Concept ID:
C3888239
Finding
There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. Very rarely, nerve cells are missing from the entire large intestine and sometimes part of the small intestine (total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis).\n\nEnteric nerves trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. People with this disorder are at risk of developing more serious conditions such as inflammation of the intestine (enterocolitis) or a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be fatal.\n\nHirschsprung disease can occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these cases are referred to as isolated or nonsyndromic.\n\nHirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood.

Professional guidelines

PubMed

Muto M, Matsufuji H, Taguchi T, Tomomasa T, Nio M, Tamai H, Tamura M, Sago H, Toki A, Nosaka S, Kuroda T, Yoshida M, Nakajima A, Kobayashi H, Sou H, Masumoto K, Watanabe Y, Kanamori Y, Hamada Y, Yamataka A, Shimojima N, Kubota A, Ushijima K, Haruma K, Fukudo S, Araki Y, Kudo T, Obata S, Sumita W, Watanabe T, Fukahori S, Fujii Y, Yamada Y, Jimbo K, Kawai F, Fukuoka T, Onuma S, Morizane T, Ieiri S, Esumi G, Jimbo T, Yamasaki T
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Recent clinical studies

Etiology

Alturkustani M, Shillingford N, Zhou S, Wang L, Warren M
Pediatr Dev Pathol 2021 Jan-Feb;24(1):19-26. Epub 2020 Sep 25 doi: 10.1177/1093526620953372. PMID: 32975470
Gershon MD
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Ohlsson B, Veress B, Lindgren S, Sundkvist G
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Puri P, Rolle U
Semin Pediatr Surg 2004 Nov;13(4):293-9. doi: 10.1053/j.sempedsurg.2004.10.017. PMID: 15660323

Diagnosis

Yoshimaru K, Yanagi Y, Obata S, Takahashi Y, Irie K, Omori A, Matsuura T, Taguchi T
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Puri P, Rolle U
Semin Pediatr Surg 2004 Nov;13(4):293-9. doi: 10.1053/j.sempedsurg.2004.10.017. PMID: 15660323
Sullivan PB
Arch Dis Child 1996 Jan;74(1):5-7. doi: 10.1136/adc.74.1.5. PMID: 8660047Free PMC Article

Therapy

Müller I, Kym U, Galati V, Tharakan S, Subotic U, Krebs T, Stathopoulos E, Schmittenbecher P, Cholewa D, Romero P, Reingruber B; NIGStudy Group, Holland-Cunz S, Keck S
Front Immunol 2021;12:781147. Epub 2022 Jan 6 doi: 10.3389/fimmu.2021.781147. PMID: 35069554Free PMC Article
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Soret R, Mennetrey M, Bergeron KF, Dariel A, Neunlist M, Grunder F, Faure C, Silversides DW, Pilon N; Ente-Hirsch Study Group
J Clin Invest 2015 Dec;125(12):4483-96. Epub 2015 Nov 16 doi: 10.1172/JCI83178. PMID: 26571399Free PMC Article
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Corazziari E
Can J Gastroenterol 1999 Mar;13 Suppl A:71A-75A. doi: 10.1155/1999/598659. PMID: 10202212

Prognosis

Muto M, Matsufuji H, Taguchi T, Tomomasa T, Nio M, Tamai H, Tamura M, Sago H, Toki A, Nosaka S, Kuroda T, Yoshida M, Nakajima A, Kobayashi H, Sou H, Masumoto K, Watanabe Y, Kanamori Y, Hamada Y, Yamataka A, Shimojima N, Kubota A, Ushijima K, Haruma K, Fukudo S, Araki Y, Kudo T, Obata S, Sumita W, Watanabe T, Fukahori S, Fujii Y, Yamada Y, Jimbo K, Kawai F, Fukuoka T, Onuma S, Morizane T, Ieiri S, Esumi G, Jimbo T, Yamasaki T
Pediatr Int 2018 May;60(5):400-410. doi: 10.1111/ped.13559. PMID: 29878629
Taguchi T, Ieiri S, Miyoshi K, Kohashi K, Oda Y, Kubota A, Watanabe Y, Matsufuji H, Fukuzawa M, Tomomasa T
Asian J Surg 2017 Jan;40(1):29-34. Epub 2015 Jul 26 doi: 10.1016/j.asjsur.2015.04.004. PMID: 26216257
Newgreen DF, Dufour S, Howard MJ, Landman KA
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Ohlsson B, Veress B, Lindgren S, Sundkvist G
Inflamm Bowel Dis 2007 Jun;13(6):721-6. doi: 10.1002/ibd.20095. PMID: 17230538
Puri P, Rolle U
Semin Pediatr Surg 2004 Nov;13(4):293-9. doi: 10.1053/j.sempedsurg.2004.10.017. PMID: 15660323

Clinical prediction guides

Soret R, Schneider S, Bernas G, Christophers B, Souchkova O, Charrier B, Righini-Grunder F, Aspirot A, Landry M, Kembel SW, Faure C, Heuckeroth RO, Pilon N
Gastroenterology 2020 Nov;159(5):1824-1838.e17. Epub 2020 Jul 17 doi: 10.1053/j.gastro.2020.07.018. PMID: 32687927
Newgreen DF, Dufour S, Howard MJ, Landman KA
Dev Biol 2013 Oct 1;382(1):305-19. Epub 2013 Jul 6 doi: 10.1016/j.ydbio.2013.06.029. PMID: 23838398Free PMC Article
Pan ZW, Li JC
Anat Rec (Hoboken) 2012 Oct;295(10):1628-38. Epub 2012 Jul 19 doi: 10.1002/ar.22538. PMID: 22815266
Ohlsson B, Veress B, Lindgren S, Sundkvist G
Inflamm Bowel Dis 2007 Jun;13(6):721-6. doi: 10.1002/ibd.20095. PMID: 17230538
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Recent systematic reviews

O'Donnell AM, Puri P
Pediatr Surg Int 2010 Nov;26(11):1065-9. doi: 10.1007/s00383-010-2692-4. PMID: 20714729

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