Difference between revisions of "Pediatric gastrointestinal pathology"
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=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== | ||
Revision as of 12:27, 1 June 2012
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.
Birth defects
Omphalocele
General
Usually genetic (unlike gastroschisis) - associated with:[1]
- Trisomy 18 (Edwards syndrome).
- Beckwith-Wiedemann syndrome.
Presentation:
- Increased AFP.
Gross
- Bowel outside of abdomen - covered by membrane/in a sac.
Image:
Gastroschisis
General
- Defect considered to be more severe than omphalocele.
- Usually sporadic.
Gross
- Bowel outside of abdomen - individual loops of bowel are seen.
Image:
Luminal pathology
Esophageal atresia
General
- Multifactoral.
- Often associated with other abnormalities.
Forms:[2]
- 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.[2]
Image:
Abetalipoproteinemia
- AKA Bassen-Kornzweig syndrome.
General
- Rare genetic disorder.[3][4]
- 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.[5]
Microscopic
Features:
- Flat mucosa; no villi.
Notes:
- Appearance similar to celiac sprue; however, usually lacks the intraepithelial lymphocytic infiltration characteristic of celiac sprue.
Images:
IHC
- Carcinoembryonic antigen (CEA) +ve.[6]
EM
- Diagnosis is dependent on electron microscopy.[7]
Images:
Cystic fibrosis
Main article: Cystic fibrosis
General
- Genetic.
- May lead to meconium ileus.
Microscopic
Features - large bowel:[8]
- Crypt enlargement.
Notes:
- Not intracellular and extracellular accumulation of mucus. (?)
Aganglionosis
- AKA Hirschsprung disease.
General
- Genetic disorder:[9]
- May be associated with mutations in RET.
- Several genes involved.
- Inheritance pattern variable.
- Treatment: surgery (Swenson's procedure or Duhamel procedure).[10]
Pathology:
- Parasympathetic ganglion cells in submucosal plexus (Meissner plexus) and myenteric plexus (Auerbach plexus) - absent.[11]
Notes:
- Most common reason for litigation in paediatric pathology.[12]
Gross
Features:
- Dilated bowel; stuffed sausage-look.
Image:
Microscopic
Features:
- Ganglion cells missing in submucosal plexus and myenteric plexus.
- +/-Submucosal fibrosis.
Image:
Stains
- Acetylcholinesterase - marks the abundant, disorganized, nerve fibers.
Image:
IHC
Features:[14]
- 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).[15]
- Nerve fibres +ve control.
Others:[14]
- NSE ~ normal.
- S100 ~ normal.
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.[17]
- Necrotizing enteritis = small bowel only.
Microscopic
Features:
- Large spaces.
Images:
Autoimmune enteropathy
Main article: Autoimmune enteropathy
Pancreas
Main article: Pancreas
Pancreatic islet cell hyperplasia
General
- Associated 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
Main article: Liver pathology
Giant cell hepatitis
- AKA neonatal giant cell hepatitis, abbreviated NGCH.
General
- Rare.
Etiology:
- Unknown - possibly viral, autoimmune and/or drugs.[19]
- 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.[20]
- Reported association with subdural hematoma.[21]
Microscopic
Features:[22]
- 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.[24]
- Etiology - various.
Microscopic
Features:[24]
- Bile duct proliferation.
- Portal tract edema.
- Portal tract fibrosis.
Image:
See also
References
- ↑ Frolov, P.; Alali, J.; Klein, MD. (Dec 2010). "Clinical risk factors for gastroschisis and omphalocele in humans: a review of the literature.". Pediatr Surg Int 26 (12): 1135-48. doi:10.1007/s00383-010-2701-7. PMID 20809116.
- ↑ 2.0 2.1 Spitz, L. (2007). "Oesophageal atresia.". Orphanet J Rare Dis 2: 24. doi:10.1186/1750-1172-2-24. PMID 17498283.
- ↑ 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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 142623
- ↑ Okasora, T.; Okamoto, E.; Kuwata, K.; Toyosaka, A.; Ohashi, S.; Ueki, S. (Oct 1983). "Serum and erythrocyte acetylcholine esterase in Hirschsprung's disease.". Z Kinderchir 38 (5): 298-300. doi:10.1055/s-2008-1059992. PMID 6649901.
- ↑ Vorobyov, GI.; Achkasov, SI.; Biryukov, OM. (2006). "Hirschsprung's disease in adults.". Acta Chir Iugosl 53 (2): 113-6. PMID 17139897.
- ↑ Taylor, G. 19 January 2011.
- ↑ URL: http://pathology.mc.duke.edu/research/PTH225.html. Accessed on: 11 January 2011.
- ↑ 14.0 14.1 Luider, TM.; van Dommelen, MW.; Tibboel, D.; Meijers, JH.; Ten Kate, FJ.; Trojanowski, JQ.; Molenaar, JC. (Jul 1992). "Differences in phosphorylation state of neurofilament proteins in ganglionic and aganglionic bowel segments of children with Hirschsprung's disease.". J Pediatr Surg 27 (7): 815-9. PMID 1640323.
- ↑ Deguchi, E.; Iwai, N.; Goto, Y.; Yanagihara, J.; Fushiki, S. (Jul 1993). "An immunohistochemical study of neurofilament and microtubule-associated Tau protein in the enteric innervation in Hirschsprung's disease.". J Pediatr Surg 28 (7): 886-90. PMID 8229560.
- ↑ 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.
- ↑ Hartl, J.; Buettner, R.; Rockmann, F.; Farkas, S.; Holstege, A.; Vogel, C.; Schnitzbauer, A.; Schlitt, HJ. et al. (Nov 2010). "Giant cell hepatitis: an unusual cause of fulminant liver failure.". Z Gastroenterol 48 (11): 1293-6. doi:10.1055/s-0029-1245476. PMID 21043007.
- ↑ Hayashi, H.; Narita, R.; Hiura, M.; Abe, S.; Tabaru, A.; Tanimoto, A.; Sasaguri, Y.; Harada, M. (2011). "A case of adult autoimmune hepatitis with histological features of giant cell hepatitis.". Intern Med 50 (4): 315-9. PMID 21325763.
- ↑ Guddat, SS.; Ehrlich, E.; Martin, H.; Tsokos, M. (Sep 2011). "Fatal spontaneous subdural bleeding due to neonatal giant cell hepatitis: a rare differential diagnosis of shaken baby syndrome.". Forensic Sci Med Pathol 7 (3): 294-7. doi:10.1007/s12024-011-9227-8. PMID 21331818.
- ↑ Torbenson, M.; Hart, J.; Westerhoff, M.; Azzam, RK.; Elgendi, A.; Mziray-Andrew, HC.; Kim, GE.; Scheimann, A. (Oct 2010). "Neonatal giant cell hepatitis: histological and etiological findings.". Am J Surg Pathol 34 (10): 1498-503. doi:10.1097/PAS.0b013e3181f069ab. PMID 20871223.
- ↑ URL: http://www.ikp.unibe.ch/lab2/labdk.htm. Accessed on: 27 December 2011.
- ↑ 24.0 24.1 Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 464. ISBN 978-1416054542.
- ↑ Hertel, PM.; Estes, MK. (Jan 2012). "Rotavirus and biliary atresia: can causation be proven?". Curr Opin Gastroenterol 28 (1): 10-7. doi:10.1097/MOG.0b013e32834c7ae4. PMID 22123643.
- ↑ Santos, JL.; Choquette, M.; Bezerra, JA. (Feb 2010). "Cholestatic liver disease in children.". Curr Gastroenterol Rep 12 (1): 30-9. doi:10.1007/s11894-009-0081-8. PMID 20425482.