Difference between revisions of "Pediatric pathology"

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===Cardiac===
===Cardiac===
*May be associated [[cardiomyopathy]]: DCM, RCM.
*May be associated with [[cardiomyopathy]]: DCM, RCM.
 
==Angelmann syndrome==
*[[AKA]] happy puppet syndrome.
 
===General===
*Loss of a gene on 15p.
**May be due to genetic imprinting disorder, i.e. only maternal gene imprinting pattern is present (due to loss of the paternal chromosome).
*Mental retardation.


=Gastrointestinal pathology=
=Gastrointestinal pathology=

Revision as of 07:13, 28 January 2011

The article deals with paediatric pathology, which is quite different than adult pathology. Many diseases that afflict children are uncommon or unheard of in adults.

Syndromes

Noonan syndrome

  • Many different problems.[1]

Cardiac

Angelmann syndrome

  • AKA happy puppet syndrome.

General

  • Loss of a gene on 15p.
    • May be due to genetic imprinting disorder, i.e. only maternal gene imprinting pattern is present (due to loss of the paternal chromosome).
  • Mental retardation.

Gastrointestinal pathology

Cystic fibrosis

  • Abbreviated CF.

General

  • Genetic.
  • May lead to meconium ileus.

Microscopic (large bowel)

Features:[2]

  • 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.[3]

Notes:

  • Most common reason for litigation in paediatric pathology.[4]

Microscopic

Features:[3]

  • Ganglion cells missing in submucosal plexus and myenteric plexus.
  • +/-Submucosal fibrosis.

Stains

  • Acetylcholinesterase: abundant, disorganized, nerve fibers.
  • CD117. (???)

Images:

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

General

  • Disease of the newborn.
  • Diagnosed by imaging.

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:

Cardiovascular pathology

Persistent pulmonary hypertension of the newborn

  • Abbreviated PPHN.
  • Related to patent ductus arteriosus and persistent fetal circulation.[7]

Associations:[8]

  • Meconium aspiration.
  • Anemia.
  • Infection.
    • Pneumonia (severe).
  • Hypoglycemia.
  • Birth asphyxia.

Williams syndrome

  • Supravalvular stenosis.[9]

Neuropathology

Hypoxic-ischemic encephalopathy

  • Abbreviated HIE.

General

  • Autopsy adds some information.
  • Two-tone liver - suggests prior injury.[10]
  • HIE in perinatal period may be unique to the specific time of the injury, i.e. the type of hypoxic insults vary by developmental stage.[11]
    • Some hypoxic injuries that are prenatal do not occur after birth.
      • Pontosubicular necrosis is prenatal; the subiculum postnatal (like in adults) is resistant to hypoxic-ischemic insults.
    • Hypoxic-ischemic insults are predominantly in the white matter. (???)
  • HIE is the most common cause of neonatal seizures and often difficult to control with anticonvulsants.[12]

Possible findings in HIE

Hemorrhagic lesions:[13]

  • Germinal matrix & intraventricular hemorrhage.
  • Choroid plexus hemorrhage.
  • Cerebellar hemorrhage.
  • Subpial hemorrhage.

White matter lesions:[13]

  • Periventricular leukomalacia.
  • Subcortical leukomalacia.
  • Telencephalic (cerebral) leukomalacia.

Grey matter lesions:[13]

  • Pontosubicular necrosis.
  • Infarcts of the cerebral cortex, basal ganglia, thalamus, brain stem.

Germinal matrix hemorrhage

  • Arises from the germinal matrix, the tissue from which neurons and glial arise from.[14]
  • The germinal matrix is thought to be intrinsically fragile and is especially so in premature infants.

References

  1. URL: http://www.ncbi.nlm.nih.gov/omim/163950. Accessed on: 13 January 2011.
  2. 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.
  3. 3.0 3.1 URL: [[1] [2]]. Accessed on: 11 January 2011.
  4. GT. 19 January 2011.
  5. URL: http://pathology.mc.duke.edu/research/PTH225.html. Accessed on: 11 January 2011.
  6. URL: http://cueflash.com/decks/Pathology_Pediatrics. Accessed on: 11 January 2011.
  7. URL: http://www.thechildrenshospital.org/wellness/info/parents/20830.aspx. Accessed on: 4 January 2011.
  8. URL: http://www.thechildrenshospital.org/wellness/info/parents/20830.aspx. Accessed on: 4 January 2011.
  9. URL: http://www.ncbi.nlm.nih.gov/omim/194050. Accessed on: 11 January 2011.
  10. Elder DE, Zuccollo JM, Stanley TV (July 2005). "Neonatal death after hypoxic ischaemic encephalopathy: does a postmortem add to the final diagnoses?". BJOG 112 (7): 935–40. doi:10.1111/j.1471-0528.2005.00608.x. PMID 15957995.
  11. Grafe MR, Kinney HC (February 2002). "Neuropathology associated with stillbirth". Semin. Perinatol. 26 (1): 83–8. PMID 11876572.
  12. URL: http://emedicine.medscape.com/article/973501-overview. Accessed on: 7 January 2011.
  13. 13.0 13.1 13.2 Riezzo I, Neri M, De Stefano F, et al. (2010). "The timing of perinatal hypoxia/ischemia events in term neonates: a retrospective autopsy study. HSPs, ORP-150 and COX2 are reliable markers to classify acute, perinatal events". Diagn Pathol 5: 49. doi:10.1186/1746-1596-5-49. PMC 2914029. PMID 20626887. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2914029/.
  14. 14.0 14.1 Ballabh P (January 2010). "Intraventricular hemorrhage in premature infants: mechanism of disease". Pediatr. Res. 67 (1): 1–8. doi:10.1203/PDR.0b013e3181c1b176. PMC 2799187. PMID 19816235. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799187/.

External links

Cases