Pediatric gastrointestinal pathology: Difference between revisions

Jump to navigation Jump to search
← Older edit
Michael (talk | contribs)
49,358 edits
→Luminal pathology: +esophageal atresia
Brigitte (talk | contribs)
30 edits
 
(27 intermediate revisions by 3 users not shown)
Line 6: Line 6:
==Omphalocele==
==Omphalocele==
===General===
===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>
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).
*[[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]].
*[[Beckwith-Wiedemann syndrome]].


Presentation:
Presentation:
*Increased AFP.
*Increased AFP.
===Gross===
===Gross===
*Bowel outside of abdomen - covered by membrane/in a sac.
*Bowel outside of abdomen - covered by membrane/in a sac.
Line 20: Line 21:
==Gastroschisis==
==Gastroschisis==
===General===
===General===
*Defect considered to be more severe than omphalocele.
*Defect considered to be more severe than [[omphalocele]].
*Usually sporadic.
*Usually sporadic.


Line 51: Line 52:
*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===
Line 58: Line 68:
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==
Line 75: Line 91:


===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===
Line 97: Line 113:
*''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===
*Genetic disorder:<ref>{{OMIM|142623}}</ref>
*Genetic disorder:<ref>{{OMIM|142623}}</ref>
**May be associated with mutations in ''RET''.
**5-10% familial; RET gene most commonly mutated.
**Several genes involved.
**Several genes involved.
**Inheritance pattern variable.
**Inheritance pattern variable.
Line 107: Line 123:


Pathology:
Pathology:
*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>
*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:
Line 115: Line 132:
Features:
Features:
*Dilated bowel; stuffed sausage-look.
*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:
Image:
Line 122: Line 146:
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.


Line 140: Line 168:
**Nerve fibres +ve control.
**Nerve fibres +ve control.


Others:<ref name=pmid1640323/>
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>
*NSE ~ normal.  
:
*S100 ~ normal.
*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==
Line 148: Line 177:
*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===
Line 155: Line 185:
*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>


Line 190: Line 220:
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==
==Autoimmune enteropathy==
Line 239: Line 272:
*Lobular cholestasis.
*Lobular cholestasis.


Images:
====Images====
*[http://www.ikp.unibe.ch/lab2/giant04.jpg GCH (unibe.ch)].<ref>URL: [http://www.ikp.unibe.ch/lab2/labdk.htm http://www.ikp.unibe.ch/lab2/labdk.htm]. Accessed on: 27 December 2011.</ref>
*[http://www.surgicalpathologyatlas.com/glfusion/mediagallery/media.php?f=0&sort=0&s=20090423115718994 GCH (surgicalpathologyatlas.com)].


==Biliary atresia==
==Biliary atresia==
Retrieved from "https://librepathology.org/wiki/Pediatric_gastrointestinal_pathology"