Pediatric gastrointestinal pathology
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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:
Luminal pathology
Abetalipoproteinemia
- AKA Bassen-Kornzweig syndrome.
General
- Rare genetic disorder.[2][3]
- 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.[4]
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.[5]
EM
- Diagnosis is dependent on electron microscopy.[6]
Images:
Cystic fibrosis
- Abbreviated CF.
General
- Genetic.
- May lead to meconium ileus.
Microscopic (large bowel)
Features:[7]
- 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.[8]
Notes:
- Most common reason for litigation in paediatric pathology.[9]
Microscopic
Features:[8]
- 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.[12]
- 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.[14]
- 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.[15]
- Reported association with subdural hematoma.[16]
Microscopic
Features:[17]
- Giant hepatocytes with multiple nuclei - key feature.
- Typically ~35% of hepatocytes affected.
- Minimal or absent inflammation portal and lobular inflammation.
- Lobular cholestasis.
Images:
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.
- ↑ 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.
- ↑ 8.0 8.1 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.
- ↑ 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.