Difference between revisions of "Pediatric gastrointestinal pathology"
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==Microvillous inclusion disease== | ==Microvillous inclusion disease== | ||
*[[AKA]] ''Davidson disease''. | |||
===General=== | ===General=== | ||
*Autosomal recessive inherited condition - due to mutation in ''MYO5B''.<ref name=pmid18724368>{{cite journal |author=Müller T, Hess MW, Schiefermeier N, ''et al.'' |title=MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity |journal=Nat. Genet. |volume=40 |issue=10 |pages=1163–5 |year=2008 |month=October |pmid=18724368 |doi=10.1038/ng.225 |url=}}</ref> | *Autosomal recessive inherited condition - due to mutation in ''MYO5B''.<ref name=pmid18724368>{{cite journal |author=Müller T, Hess MW, Schiefermeier N, ''et al.'' |title=MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity |journal=Nat. Genet. |volume=40 |issue=10 |pages=1163–5 |year=2008 |month=October |pmid=18724368 |doi=10.1038/ng.225 |url=}}</ref> | ||
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*Flat mucosa; no villi. | *Flat mucosa; no villi. | ||
IHC | Notes: | ||
*Appearance similar to [[celiac sprue]]; however, usually lacks the intraepithelial lymphocytic infiltration characteristic of celiac sprue. | |||
===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>{{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: [http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=1398 MID (gfmer.ch)]. | *Images: [http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=1398 MID (gfmer.ch)]. | ||
==Cystic fibrosis== | ==Cystic fibrosis== | ||
Revision as of 04:31, 28 December 2011
This article deals with pediatric gastrointestinal pathology. An introduction to pediatric pathology is in the pediatric pathology article.
An overview of (adult) gastrointestinal pathology is in the gastrointestinal pathology article.
Luminal pathology
Abetalipoproteinemia
- AKA Bassen-Kornzweig syndrome.
General
- Rare genetic disorder.[1][2]
- GI-related symptoms similar to Celiac disease: malabsorption.
Microscopic
Features:
- Enterocytes have clear cytoplasm (due to lipid accumulation).
Notes:
- Have abnormal erythrocytes with a spiculated cell membranes acanthocyte - seen on blood films.
Microvillous inclusion disease
- AKA Davidson disease.
General
- Autosomal recessive inherited condition - due to mutation in MYO5B.[3]
Microscopic
Features:
- Flat mucosa; no villi.
Notes:
- Appearance similar to celiac sprue; however, usually lacks the intraepithelial lymphocytic infiltration characteristic of celiac sprue.
IHC
- Carcinoembryonic antigen (CEA) +ve.[4]
EM
- Diagnosis is dependent on electron microscopy.[5]
- Images: MID (gfmer.ch).
Cystic fibrosis
- Abbreviated CF.
General
- Genetic.
- May lead to meconium ileus.
Microscopic (large bowel)
Features:[6]
- Crypt enlargement.
Notes:
- Not intracellular and extracellular accumulation of mucus. (?)
Aganglionosis
- AKA Hirschsprung disease.
General
- Congenital.
- Fixed by surgery.
Pathology:
- Parasympathetic ganglion cells in intramural and submucosal plexuses - not present.[7]
Notes:
- Most common reason for litigation in paediatric pathology.[8]
Microscopic
Features:[7]
- Ganglion cells missing in submucosal plexus and myenteric plexus.
- +/-Submucosal fibrosis.
Stains
- Acetylcholinesterase: abundant, disorganized, nerve fibers.
- CD117. (???)
Images:
Meconium ileus
General
- Classically due to cystic fibrosis.
- May lead to meconium peritonitis.
Gross
Features:
- Thick.
- High viscosity.
- Green.
Image:
Microscopic
Features:
- Meconium-laden macrophages. (???)
Meconium peritonitis
General
- May be due to a number of causes:
- Aganglionosis (Hirschsprung disease).
- Meconium ileus.
Microscopic
Features:
- Brown granular material - key feature.
- +/-Multinucleated giant cells.
- Inflammatory infiltrate (PMNs, lymphocytes, plasma cells).
Image:
Necrotizing enterocolitis
- Abbreviated NEC.
General
- Disease primarily of premature babies.
- Diagnosed by imaging.
Note:
- Enterocolitis = inflammation of small bowel and colon.[11]
- Necrotizing enteritis = small bowel only.
Microscopic
Features:
- Large spaces.
Images:
Pancreatic islet cell hyperplasia
General
- Assoc. with maternal diabetes.
Microscopic
Features:
- Marked size variation of pancreatic islets.
- Normal islets ~ 150 micrometers (diameter). Hyperplastic islets - up to ~500 micrometers (diameter).
Image:
Liver
Neonatal (giant cell) hepatitis
General
- Good prognosis. (???)
Microscopic
Features:
- Hepatocyte enlargement - "ballooning".
- Giant cell formation.
See also
References
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/200100. Accessed on: 6 April 2011.
- ↑ Bassen FA, Kornzweig AL (April 1950). "Malformation of the erythrocytes in a case of atypical retinitis pigmentosa". Blood 5 (4): 381–87. PMID 15411425.
- ↑ Müller T, Hess MW, Schiefermeier N, et al. (October 2008). "MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity". Nat. Genet. 40 (10): 1163–5. doi:10.1038/ng.225. PMID 18724368.
- ↑ Mills, Stacey E; Carter, Darryl; Greenson, Joel K; Oberman, Harold A; Reuter, Victor E (2004). Sternberg's Diagnostic Surgical Pathology (4th ed.). Lippincott Williams & Wilkins. ISBN 978-0781740517.
- ↑ Kennea N, Norbury R, Anderson G, Tekay A (2001). "Congenital microvillous inclusion disease presenting as antenatal bowel obstruction". Ultrasound Obstet Gynecol 17 (2): 172–4. doi:10.1046/j.1469-0705.2001.00211.x. PMID 11251929.
- ↑ Neutra MR, Trier JS (October 1978). "Rectal mucosa in cystic fibrosis. Morphological features before and after short term organ culture". Gastroenterology 75 (4): 701–10. PMID 710839.
- ↑ 7.0 7.1 URL: [[1] [2]]. Accessed on: 11 January 2011.
- ↑ GT. 19 January 2011.
- ↑ URL: http://pathology.mc.duke.edu/research/PTH225.html. Accessed on: 11 January 2011.
- ↑ URL: http://library.med.utah.edu/WebPath/EXAM/IMGQUIZ/pdfrm.html. Accessed on: 3 December 2011.
- ↑ URL: http://medical-dictionary.thefreedictionary.com/enterocolitis. Accessed on: 10 October 2011.
- ↑ URL: http://cueflash.com/decks/Pathology_Pediatrics. Accessed on: 11 January 2011.