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An overview of (adult) gastrointestinal pathology is in the ''[[gastrointestinal pathology]]'' article. | An overview of (adult) gastrointestinal pathology is in the ''[[gastrointestinal pathology]]'' article. | ||
=Birth defects= | |||
==Omphalocele== | |||
===General=== | |||
Usually genetic (unlike [[gastroschisis]]) - associated with:<ref name=pmid20809116>{{Cite journal | last1 = Frolov | first1 = P. | last2 = Alali | first2 = J. | last3 = Klein | first3 = MD. | title = Clinical risk factors for gastroschisis and omphalocele in humans: a review of the literature. | journal = Pediatr Surg Int | volume = 26 | issue = 12 | pages = 1135-48 | month = Dec | year = 2010 | doi = 10.1007/s00383-010-2701-7 | PMID = 20809116 }}</ref> | |||
*[[Trisomy 18]] (Edwards syndrome) ~ 6% have omphaloceles in a series of 85 cases.<ref name=pmid3191615>{{Cite journal | last1 = Moore | first1 = CA. | last2 = Harmon | first2 = JP. | last3 = Padilla | first3 = LM. | last4 = Castro | first4 = VB. | last5 = Weaver | first5 = DD. | title = Neural tube defects and omphalocele in trisomy 18. | journal = Clin Genet | volume = 34 | issue = 2 | pages = 98-103 | month = Aug | year = 1988 | doi = | PMID = 3191615 }}</ref> | |||
*[[Beckwith-Wiedemann syndrome]]. | |||
Presentation: | |||
*Increased AFP. | |||
===Gross=== | |||
*Bowel outside of abdomen - covered by membrane/in a sac. | |||
Image: | |||
*[http://library.med.utah.edu/WebPath/PEDHTML/PED006.html Omphalocele (utah.edu)]. | |||
==Gastroschisis== | |||
===General=== | |||
*Defect considered to be more severe than [[omphalocele]]. | |||
*Usually sporadic. | |||
===Gross=== | |||
*Bowel outside of abdomen - individual loops of bowel are seen. | |||
Image: | |||
*[http://med.brown.edu/pedisurg/Brown/IBImages/AbdWallDefects/Gastroschisis%202.html Gastroschisis (brown.edu)]. | |||
=Luminal pathology= | =Luminal pathology= | ||
==Esophageal atresia== | |||
===General=== | |||
*Multifactoral. | |||
*Often associated with other abnormalities. | |||
Forms:<ref name=pmid17498283>{{Cite journal | last1 = Spitz | first1 = L. | title = Oesophageal atresia. | journal = Orphanet J Rare Dis | volume = 2 | issue = | pages = 24 | month = | year = 2007 | doi = 10.1186/1750-1172-2-24 | PMID = 17498283 }}</ref> | |||
#Esophageal atresia with distal tracheoesophageal fistula - most common. | |||
#Esophageal atresia without a fistula. | |||
Note: | |||
*The "H-type" tracheoeosphageal fistula is often lumped together with ''esophageal atresia''.<ref name=pmid17498283/> | |||
Image: | |||
*[http://commons.wikimedia.org/wiki/File:Atrezja.jpg Esophageal atresia (WC)]. | |||
==Abetalipoproteinemia== | ==Abetalipoproteinemia== | ||
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===General=== | ===General=== | ||
*Rare genetic disorder.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/200100 http://www.ncbi.nlm.nih.gov/omim/200100]. Accessed on: 6 April 2011.</ref><ref>{{cite journal |author=Bassen FA, Kornzweig AL |title=Malformation of the erythrocytes in a case of atypical retinitis pigmentosa |journal=Blood |volume=5 |issue=4 |pages=381–87 |year=1950 |month=April |pmid=15411425 |doi= |url=}}</ref> | *Rare genetic disorder.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/200100 http://www.ncbi.nlm.nih.gov/omim/200100]. Accessed on: 6 April 2011.</ref><ref>{{cite journal |author=Bassen FA, Kornzweig AL |title=Malformation of the erythrocytes in a case of atypical retinitis pigmentosa |journal=Blood |volume=5 |issue=4 |pages=381–87 |year=1950 |month=April |pmid=15411425 |doi= |url=}}</ref> | ||
*GI-related symptoms similar to [[ | *GI-related symptoms similar to [[celiac disease]] - malabsorption. | ||
Clinical features:<ref name=pmid24139731>{{Cite journal | last1 = Hammer | first1 = MB. | last2 = El Euch-Fayache | first2 = G. | last3 = Nehdi | first3 = H. | last4 = Feki | first4 = M. | last5 = Maamouri-Hicheri | first5 = W. | last6 = Hentati | first6 = F. | last7 = Amouri | first7 = R. | title = Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. | journal = J Clin Neurosci | volume = 21 | issue = 2 | pages = 311-5 | month = Feb | year = 2014 | doi = 10.1016/j.jocn.2013.04.016 | PMID = 24139731 }}</ref> | |||
*Failure to thrive. | |||
*Pigmented retinopathy. | |||
Blood work:<ref name=pmid24139731/> | |||
*Cholesterol - low. | |||
*Triglyceride - low. | |||
*Apolipoprotein B - very low. | |||
===Microscopic=== | ===Microscopic=== | ||
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Notes: | Notes: | ||
*Have abnormal erythrocytes with a spiculated cell membranes ''acanthocyte'' - seen on blood films. | *Have abnormal erythrocytes with a spiculated cell membranes ''acanthocyte'' - seen on blood films. | ||
====Images==== | |||
<gallery> | |||
Image:Abetalipoproteinemia_-_intermed_mag.jpg | Abetalipoproteinemia - intermed. mag. (WC) | |||
Image:Abetalipoproteinemia_-_very_high_mag.jpg | Abetalipoproteinemia - very high mag. (WC) | |||
</gallery> | |||
==Microvillous inclusion disease== | ==Microvillous inclusion disease== | ||
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Notes: | Notes: | ||
*Appearance similar to [[celiac sprue]]; however, usually lacks the intraepithelial lymphocytic infiltration characteristic of celiac sprue. | *Appearance similar to [[celiac sprue]]; however, usually lacks the intraepithelial lymphocytic infiltration characteristic of [[celiac sprue]]. | ||
Images: | |||
*[http://path.upmc.edu/cases/case163.html Microvillous inclusion disease - several images (upmc.edu)]. | |||
===IHC=== | ===IHC=== | ||
*Carcinoembryonic antigen (CEA) +ve.<ref name=Ref_Sternberg4>{{Ref Sternberg4|}}</ref> | *[[Carcinoembryonic antigen]] (CEA) +ve.<ref name=Ref_Sternberg4>{{Ref Sternberg4|}}</ref> | ||
===EM=== | ===EM=== | ||
*Diagnosis is dependent on [[electron microscopy]].<ref>{{cite journal |author=Kennea N, Norbury R, Anderson G, Tekay A |title=Congenital microvillous inclusion disease presenting as antenatal bowel obstruction |journal=Ultrasound Obstet Gynecol |volume=17 |issue=2 |pages=172–4 |year=2001 |pmid=11251929 |doi=10.1046/j.1469-0705.2001.00211.x}}</ref> | *Diagnosis is dependent on [[electron microscopy]].<ref name=pmid11251929>{{cite journal |author=Kennea N, Norbury R, Anderson G, Tekay A |title=Congenital microvillous inclusion disease presenting as antenatal bowel obstruction |journal=Ultrasound Obstet Gynecol |volume=17 |issue=2 |pages=172–4 |year=2001 |pmid=11251929 |doi=10.1046/j.1469-0705.2001.00211.x}}</ref> | ||
Images: | Images: | ||
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==Cystic fibrosis== | ==Cystic fibrosis== | ||
{{Main|Cystic fibrosis}} | |||
===General=== | ===General=== | ||
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*May lead to [[meconium ileus]]. | *May lead to [[meconium ileus]]. | ||
===Microscopic | ===Microscopic=== | ||
Features:<ref name=pmid710839>{{cite journal |author=Neutra MR, Trier JS |title=Rectal mucosa in cystic fibrosis. Morphological features before and after short term organ culture |journal=Gastroenterology |volume=75 |issue=4 |pages=701–10 |year=1978 |month=October |pmid=710839 |doi= |url=}}</ref> | Features - large bowel:<ref name=pmid710839>{{cite journal |author=Neutra MR, Trier JS |title=Rectal mucosa in cystic fibrosis. Morphological features before and after short term organ culture |journal=Gastroenterology |volume=75 |issue=4 |pages=701–10 |year=1978 |month=October |pmid=710839 |doi= |url=}}</ref> | ||
*Crypt enlargement. | *Crypt enlargement. | ||
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*''Not'' intracellular and extracellular accumulation of mucus. (?) | *''Not'' intracellular and extracellular accumulation of mucus. (?) | ||
== | ==Colonic aganglionosis== | ||
*[[AKA]] Hirschsprung disease. | *[[AKA]] ''Hirschsprung disease''. | ||
===General=== | ===General=== | ||
* | *Genetic disorder:<ref>{{OMIM|142623}}</ref> | ||
* | **5-10% familial; RET gene most commonly mutated. | ||
**Several genes involved. | |||
**Inheritance pattern variable. | |||
*Treatment: surgery (''Swenson's procedure'' or ''Duhamel procedure'').<ref name=pmid6649901>{{Cite journal | last1 = Okasora | first1 = T. | last2 = Okamoto | first2 = E. | last3 = Kuwata | first3 = K. | last4 = Toyosaka | first4 = A. | last5 = Ohashi | first5 = S. | last6 = Ueki | first6 = S. | title = Serum and erythrocyte acetylcholine esterase in Hirschsprung's disease. | journal = Z Kinderchir | volume = 38 | issue = 5 | pages = 298-300 | month = Oct | year = 1983 | doi = 10.1055/s-2008-1059992 | PMID = 6649901 }}</ref> | |||
Pathology: | Pathology: | ||
*Parasympathetic ganglion cells in | *Failure of neural crest cell migration | ||
**Parasympathetic ganglion cells in submucosal plexus (Meissner plexus) and myenteric plexus (Auerbach plexus) - absent.<ref name=pmid17139897>{{Cite journal | last1 = Vorobyov | first1 = GI. | last2 = Achkasov | first2 = SI. | last3 = Biryukov | first3 = OM. | title = Hirschsprung's disease in adults. | journal = Acta Chir Iugosl | volume = 53 | issue = 2 | pages = 113-6 | month = | year = 2006 | doi = | PMID = 17139897 }}</ref> | |||
Notes: | Notes: | ||
*Most common reason for litigation in paediatric pathology.<ref> | *Most common reason for litigation in paediatric pathology.<ref>Taylor, G. 19 January 2011.</ref> | ||
===Gross=== | |||
Features: | |||
*Dilated bowel; stuffed sausage-look. | |||
Classification: | |||
*Short-segment (75-80%): Rectum, distal sigmoid | |||
*Long-segment HD (10-20%): Beyond splenic flexure | |||
*Total colonic aganglionosis (5-15%): Entire colon.<ref name=pmid25395999>{{Cite web | last = | first = | title = Diagnosis of Hirschsprung's disease with particular emphasis on histopathology. A systematic review of current literature | url = https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4223113/ | publisher = | date = | accessdate = 19 August 2017 }}</ref> | |||
**[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4223113/figure/F0001/ Classification of Hirschsprung's disease according to the aganglionic segment length (https://www.ncbi.nlm.nih.gov)] | |||
Image: | |||
*[http://www.pathology.pitt.edu/lectures/gi/colon-a/03.htm Hirschsprung disease (pathology.pitt.edu)]. | |||
===Microscopic=== | ===Microscopic=== | ||
Features: | Features: | ||
*Ganglion cells missing in submucosal plexus and myenteric plexus. | *Ganglion cells missing in submucosal plexus and myenteric plexus. | ||
**Increasing ganglia proximally into transition zone | |||
*Hypertrophy of neural plexuses. | |||
**Many nerve trunks > 40 μm | |||
*Abnormal submucosal blood vessels may be seen | |||
*+/-Submucosal fibrosis. | *+/-Submucosal fibrosis. | ||
Image: | |||
*[http://pathology.mc.duke.edu/research/Histo_course/myent_plexus.jpg Normal myenteric plexus (duke.edu)].<ref>URL: [http://pathology.mc.duke.edu/research/PTH225.html http://pathology.mc.duke.edu/research/PTH225.html]. Accessed on: 11 January 2011.</ref> | |||
===Stains=== | ===Stains=== | ||
*Acetylcholinesterase | *Acetylcholinesterase - marks the abundant, disorganized, nerve fibers. | ||
* | |||
Image: | |||
*[http://commons.wikimedia.org/wiki/File:Hirschsprung_acetylcholine.jpg Hirschsprung - acetylcholinesterase (WC)]. | |||
===IHC=== | |||
Features:<ref name=pmid1640323>{{Cite journal | last1 = Luider | first1 = TM. | last2 = van Dommelen | first2 = MW. | last3 = Tibboel | first3 = D. | last4 = Meijers | first4 = JH. | last5 = Ten Kate | first5 = FJ. | last6 = Trojanowski | first6 = JQ. | last7 = Molenaar | first7 = JC. | title = Differences in phosphorylation state of neurofilament proteins in ganglionic and aganglionic bowel segments of children with Hirschsprung's disease. | journal = J Pediatr Surg | volume = 27 | issue = 7 | pages = 815-9 | month = Jul | year = 1992 | doi = | PMID = 1640323 }}</ref> | |||
*NF-M (neurofilament middle) - highlight hypertrophic nerve fascicules | |||
*NF-H (neurofilament high) - highlight hypertrophic nerve fascicules. | |||
*Tau ~ highlights ganglion cells (which are absent in segments affected by Hirschsprung).<ref name=pmid8229560>{{Cite journal | last1 = Deguchi | first1 = E. | last2 = Iwai | first2 = N. | last3 = Goto | first3 = Y. | last4 = Yanagihara | first4 = J. | last5 = Fushiki | first5 = S. | title = An immunohistochemical study of neurofilament and microtubule-associated Tau protein in the enteric innervation in Hirschsprung's disease. | journal = J Pediatr Surg | volume = 28 | issue = 7 | pages = 886-90 | month = Jul | year = 1993 | doi = | PMID = 8229560 }}</ref> | |||
**Nerve fibres +ve control. | |||
Others<ref>{{Cite book | last1 = Lin | first1 = Fan | last2 = Prichard | first2 = Jeffrey | title = Handbook of practical immunohistochemistry : frequently asked question | date = | publisher = | location = | isbn = 9781493915774 | pages = }}</ref> | |||
* | : | ||
* | *Calretinin ~ -ve, Usually negative in hypertrophied nerve fibers in Hirschsprung’s disease, superior to acetylcholinesterase. | ||
*NSE ~ -ve, Highlights ganglion cells to exclude Hirschsprung’s disease; specific but not very sensitive. | |||
==Meconium ileus== | ==Meconium ileus== | ||
===General=== | ===General=== | ||
*Classically due to ''cystic fibrosis''. | *Classically due to ''[[cystic fibrosis]]''. | ||
*May lead to ''[[meconium peritonitis]]''. | *May lead to ''[[meconium peritonitis]]''. | ||
*Can be mimicked by [[CMV]] infection.<ref>{{cite journal |author=Déchelotte PJ, Mulliez NM, Bouvier RJ, Vanlieféringhen PC, Lémery DJ |title=Pseudo-meconium ileus due to cytomegalovirus infection: a report of three cases |journal=Pediatr Pathol |volume=12 |issue=1 |pages=73–82 |year=1992 |pmid=1313975 |doi= |url=}}</ref> | |||
===Gross=== | ===Gross=== | ||
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*Green. | *Green. | ||
Image | ====Image==== | ||
*[http://library.med.utah.edu/WebPath/jpeg3/PERI175.jpg Meconium ileus (med.utah.edu)].<ref>URL: [http://library.med.utah.edu/WebPath/EXAM/IMGQUIZ/pdfrm.html http://library.med.utah.edu/WebPath/EXAM/IMGQUIZ/pdfrm.html]. Accessed on: 3 December 2011.</ref> | *[http://library.med.utah.edu/WebPath/jpeg3/PERI175.jpg Meconium ileus (med.utah.edu)].<ref>URL: [http://library.med.utah.edu/WebPath/EXAM/IMGQUIZ/pdfrm.html http://library.med.utah.edu/WebPath/EXAM/IMGQUIZ/pdfrm.html]. Accessed on: 3 December 2011.</ref> | ||
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Features: | Features: | ||
*Large spaces. | *Large spaces. | ||
DDx: | |||
*[[Pneumatosis intestinalis]]. | |||
Images: | Images: | ||
*[http://en.wikipedia.org/wiki/File:Neonatal_necrotizing_enterocolitis,_gross_pathology_20G0021_lores.jpg NEC - gross (WP)]. | *[http://en.wikipedia.org/wiki/File:Neonatal_necrotizing_enterocolitis,_gross_pathology_20G0021_lores.jpg NEC - gross (WP)]. | ||
*[ | *[https://library.med.utah.edu/WebPath/PEDHTML/PED045.html NEC - micro]. | ||
==Autoimmune enteropathy== | |||
{{Main|Autoimmune enteropathy}} | |||
=Pancreas= | |||
{{Main|Pancreas}} | |||
==Pancreatic islet cell hyperplasia== | ==Pancreatic islet cell hyperplasia== | ||
===General=== | ===General=== | ||
* | *Associated with maternal [[diabetes]]. | ||
===Microscopic=== | ===Microscopic=== | ||
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=Liver= | =Liver= | ||
{{Main|Liver pathology}} | |||
==Giant cell hepatitis== | ==Giant cell hepatitis== | ||
*[[AKA]] ''neonatal giant cell hepatitis'', abbreviated ''NGCH''. | *[[AKA]] ''neonatal giant cell hepatitis'', abbreviated ''NGCH''. | ||
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*Lobular cholestasis. | *Lobular cholestasis. | ||
Images | ====Images==== | ||
* | |||
*[http:// | ==Biliary atresia== | ||
===General=== | |||
*1/3 of neonatal cholestasis.<ref name=Ref_PCPBoD8|464>{{Ref PCPBoD8|464}}</ref> | |||
*Etiology - various. | |||
**Viral - possibly rotavirus.<ref name=pmid22123643>{{Cite journal | last1 = Hertel | first1 = PM. | last2 = Estes | first2 = MK. | title = Rotavirus and biliary atresia: can causation be proven? | journal = Curr Opin Gastroenterol | volume = 28 | issue = 1 | pages = 10-7 | month = Jan | year = 2012 | doi = 10.1097/MOG.0b013e32834c7ae4 | PMID = 22123643 }}</ref> | |||
**Genetic/syndromic - several.<ref name=pmid20425482>{{Cite journal | last1 = Santos | first1 = JL. | last2 = Choquette | first2 = M. | last3 = Bezerra | first3 = JA. | title = Cholestatic liver disease in children. | journal = Curr Gastroenterol Rep | volume = 12 | issue = 1 | pages = 30-9 | month = Feb | year = 2010 | doi = 10.1007/s11894-009-0081-8 | PMID = 20425482 }}</ref> | |||
===Microscopic=== | |||
Features:<ref name=Ref_PCPBoD8|464/> | |||
*Bile duct proliferation. | |||
*Portal tract edema. | |||
*Portal tract fibrosis. | |||
Image: | |||
*[http://oac.med.jhmi.edu/pathconcepts/ShowImage.cfm?TutorialID=3&ConceptID=12&ImageID=244 Biliary atresia (jhmi.edu)]. | |||
=See also= | =See also= |
edits