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Pediatric gastrointestinal pathology (view source)

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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==
Line 10: Line 51:
===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 [[Celiac disease]]: malabsorption.
*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==
*Abbreviated ''CF''.
{{Main|Cystic fibrosis}}


===General===
===General===
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*May lead to [[meconium ileus]].
*May lead to [[meconium ileus]].


===Microscopic (large bowel)===
===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. (?)


==Aganglionosis==
==Colonic aganglionosis==
*[[AKA]] Hirschsprung disease.
*[[AKA]] ''Hirschsprung disease''.
===General===
===General===
*Congenital.
*Genetic disorder:<ref>{{OMIM|142623}}</ref>
*Fixed by surgery.
**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 intramural and submucosal plexuses - not present.<ref name=pathcon_hirschsprung>URL: [[http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970813-0] [http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970813-0]]. Accessed on: 11 January 2011.</ref>
*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>GT. 19 January 2011.</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:<ref name=pathcon_hirschsprung/>
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: abundant, disorganized, nerve fibers.
*Acetylcholinesterase - marks the abundant, disorganized, nerve fibers.
*CD117. (???)
 
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.


Images:
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>
*[http://66.244.141.33/colorectal-Hirschsprung-disease Hirschsprung disease - collection (66.244.141.33)].
:
*[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>
*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)].
*[http://cueflash.com/cardimages/answers/thumbnails/7/4/7747308.jpg NEC - micro. (cueflash.com)].<ref>URL: [http://cueflash.com/decks/Pathology_Pediatrics http://cueflash.com/decks/Pathology_Pediatrics]. Accessed on: 11 January 2011.</ref>
*[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===
*Assoc. with maternal diabetes.
*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''.
===General===
===General===
*Good prognosis. (???)
*Rare.


*Reported in an adult.<ref name=pmid21325763>{{Cite journal  | last1 = Hayashi | first1 = H. | last2 = Narita | first2 = R. | last3 = Hiura | first3 = M. | last4 = Abe | first4 = S. | last5 = Tabaru | first5 = A. | last6 = Tanimoto | first6 = A. | last7 = Sasaguri | first7 = Y. | last8 = Harada | first8 = M. | title = A case of adult autoimmune hepatitis with histological features of giant cell hepatitis. | journal = Intern Med | volume = 50 | issue = 4 | pages = 315-9 | month =  | year = 2011 | doi =  | PMID = 21325763 }}</ref>
Etiology:
*Unknown - possibly viral, autoimmune and/or drugs.<ref name=pmid21043007>{{Cite journal  | last1 = Hartl | first1 = J. | last2 = Buettner | first2 = R. | last3 = Rockmann | first3 = F. | last4 = Farkas | first4 = S. | last5 = Holstege | first5 = A. | last6 = Vogel | first6 = C. | last7 = Schnitzbauer | first7 = A. | last8 = Schlitt | first8 = HJ. | last9 = Schoelmerich | first9 = J. | title = Giant cell hepatitis: an unusual cause of fulminant liver failure. | journal = Z Gastroenterol | volume = 48 | issue = 11 | pages = 1293-6 | month = Nov | year = 2010 | doi = 10.1055/s-0029-1245476 | PMID = 21043007 }}</ref>
*One large series suggests that, in the neonatal population, with follow-up the causes are:
**~49% idiopathic.
**~16% pan-hypopituitarism.
**~8% biliary atresia.
**~6% Alagille syndrome
**~6% bile salt defects.
 
Notes:
*May be seen in adults.<ref name=pmid21325763>{{Cite journal  | last1 = Hayashi | first1 = H. | last2 = Narita | first2 = R. | last3 = Hiura | first3 = M. | last4 = Abe | first4 = S. | last5 = Tabaru | first5 = A. | last6 = Tanimoto | first6 = A. | last7 = Sasaguri | first7 = Y. | last8 = Harada | first8 = M. | title = A case of adult autoimmune hepatitis with histological features of giant cell hepatitis. | journal = Intern Med | volume = 50 | issue = 4 | pages = 315-9 | month =  | year = 2011 | doi =  | PMID = 21325763 }}</ref>
*Reported association with [[subdural hematoma]].<ref name=pmid21331818>{{Cite journal  | last1 = Guddat | first1 = SS. | last2 = Ehrlich | first2 = E. | last3 = Martin | first3 = H. | last4 = Tsokos | first4 = M. | title = Fatal spontaneous subdural bleeding due to neonatal giant cell hepatitis: a rare differential diagnosis of shaken baby syndrome. | journal = Forensic Sci Med Pathol | volume = 7 | issue = 3 | pages = 294-7 | month = Sep | year = 2011 | doi = 10.1007/s12024-011-9227-8 | PMID = 21331818 }}</ref>
*Reported association with [[subdural hematoma]].<ref name=pmid21331818>{{Cite journal  | last1 = Guddat | first1 = SS. | last2 = Ehrlich | first2 = E. | last3 = Martin | first3 = H. | last4 = Tsokos | first4 = M. | title = Fatal spontaneous subdural bleeding due to neonatal giant cell hepatitis: a rare differential diagnosis of shaken baby syndrome. | journal = Forensic Sci Med Pathol | volume = 7 | issue = 3 | pages = 294-7 | month = Sep | year = 2011 | doi = 10.1007/s12024-011-9227-8 | PMID = 21331818 }}</ref>
===Microscopic===
Features:<ref name=pmid20871223>{{Cite journal  | last1 = Torbenson | first1 = M. | last2 = Hart | first2 = J. | last3 = Westerhoff | first3 = M. | last4 = Azzam | first4 = RK. | last5 = Elgendi | first5 = A. | last6 = Mziray-Andrew | first6 = HC. | last7 = Kim | first7 = GE. | last8 = Scheimann | first8 = A. | title = Neonatal giant cell hepatitis: histological and etiological findings. | journal = Am J Surg Pathol | volume = 34 | issue = 10 | pages = 1498-503 | month = Oct | year = 2010 | doi = 10.1097/PAS.0b013e3181f069ab | PMID = 20871223 }}</ref>
*Giant hepatocytes with multiple nuclei - '''key feature'''.
**Typically ~35% of hepatocytes affected.
*Minimal or absent inflammation portal and lobular inflammation.
*Lobular cholestasis.
====Images====
==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===
===Microscopic===
Features:
Features:<ref name=Ref_PCPBoD8|464/>
*Hepatocyte enlargement - "ballooning".
*Bile duct proliferation.
*Giant cell formation.
*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=
Brigitte
30

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