Difference between revisions of "Pediatric pathology"

From Libre Pathology
Jump to navigation Jump to search
Line 114: Line 114:


===IHC===
===IHC===
Features:
Features:<ref name=emed_jxg/>
*Langerhans cell markers: CD1a, CD207 -- both should be negative.  
*Langerhans cell markers: CD1a, CD207 -- both should be negative.  
**If Touton giant cells are absent -- this is essential.
**If Touton giant cells are absent -- this is essential.
*Histiocyte markers: CD68, CD163 -- both should be positive.
*Histiocyte markers: CD68, CD163 -- both should be positive.
*Vimentin +ve. (???)
*Vimentin +ve.  


Negatives:<ref name=pmid9790615>{{cite journal |author=Thomas DB, Sidler AK, Huston BM |title=Radiological case of the month. Juvenile xanthogranuloma |journal=Arch Pediatr Adolesc Med |volume=152 |issue=10 |pages=1029–30 |year=1998 |month=October |pmid=9790615 |doi= |url=http://archpedi.ama-assn.org/cgi/content/full/152/10/1029}}</ref>
Negatives:<ref name=pmid9790615>{{cite journal |author=Thomas DB, Sidler AK, Huston BM |title=Radiological case of the month. Juvenile xanthogranuloma |journal=Arch Pediatr Adolesc Med |volume=152 |issue=10 |pages=1029–30 |year=1998 |month=October |pmid=9790615 |doi= |url=http://archpedi.ama-assn.org/cgi/content/full/152/10/1029}}</ref>

Revision as of 18:16, 3 February 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 15q.
    • May be due to genetic imprinting disorder, i.e. only maternal gene imprinting pattern is present (due to loss of the paternal chromosome).[2]
  • Mental retardation.

Notes:

  • Loss of the maternal imprinting pattern on 15q leads to Prader-Willi syndrome.[3]

Gastrointestinal pathology

Main article: Pediatric gastrointestinal pathology

GI is a big part pediatric pathology and therefore gets its own article.

Among others, things discussed include:

  • Cystic fibrosis.
  • Aganglionosis (Hirschsprung disease).
  • Meconium peritonitis.
  • Necrotizing enterocolitis.

Cardiovascular pathology

Congenital heart disease

Main article: Congenital heart disease

This is a huge topic.

Persistent pulmonary hypertension of the newborn

  • Abbreviated PPHN.
  • Related to patent ductus arteriosus and persistent fetal circulation.[4]

Associations:[5]

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

Williams syndrome

  • Supravalvular stenosis.[6]

Neuropathology

Hypoxic-ischemic encephalopathy

Main article: Neuropathology
  • Abbreviated HIE.

General

  • Autopsy adds some information.
  • Two-tone liver - suggests prior injury.[7]
  • 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.[8]
    • 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.[9]

Possible findings in HIE

Hemorrhagic lesions:[10]

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

White matter lesions:[10]

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

Grey matter lesions:[10]

  • 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.[11]
  • The germinal matrix is thought to be intrinsically fragile and is especially so in premature infants.

Pediatric tumours

Wilms tumour

Main article: Wilms tumour

Most common abdominal solid organ malignancy in children.

Dermatopathology

Main article: Dermatopathology

Juvenile xanthogranuloma

  • Abbreviated as JXG.
  • AKA nevoxanthoendothelioma.

General

  • Benign skin thingy in children and infants.
  • Most common form of non–Langerhans cell histiocytosis.[12]

Microscopic

Features:[12]

  • Dermal histiocytes:
    • Abundant cytoplasm - may not be xanthomatous/foam cells.
  • +/-Touton giant cell - key feature.
    • Large multi-nucleated cells where nuclei are distributed at the cell periphery.

Images:

Notes:

  • Must prove they are non-Langerhans cell histiocytes, esp. if no Touton giant cells.

IHC

Features:[12]

  • Langerhans cell markers: CD1a, CD207 -- both should be negative.
    • If Touton giant cells are absent -- this is essential.
  • Histiocyte markers: CD68, CD163 -- both should be positive.
  • Vimentin +ve.

Negatives:[14]

  • Muscle markers: actin, desmin.
  • Others: S100, factor VIII, cytokeratins.

References

  1. ↑ URL: http://www.ncbi.nlm.nih.gov/omim/163950. Accessed on: 13 January 2011.
  2. ↑ URL: http://www.ncbi.nlm.nih.gov/omim/105830. Accessed on: 28 January 2011.
  3. ↑ URL: http://www.ncbi.nlm.nih.gov/omim/176270. Accessed on: 28 January 2011.
  4. ↑ URL: http://www.thechildrenshospital.org/wellness/info/parents/20830.aspx. Accessed on: 4 January 2011.
  5. ↑ URL: http://www.thechildrenshospital.org/wellness/info/parents/20830.aspx. Accessed on: 4 January 2011.
  6. ↑ URL: http://www.ncbi.nlm.nih.gov/omim/194050. Accessed on: 11 January 2011.
  7. ↑ 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.
  8. ↑ Grafe MR, Kinney HC (February 2002). "Neuropathology associated with stillbirth". Semin. Perinatol. 26 (1): 83–8. PMID 11876572.
  9. ↑ URL: http://emedicine.medscape.com/article/973501-overview. Accessed on: 7 January 2011.
  10. ↑ 10.0 10.1 10.2 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/.
  11. ↑ 11.0 11.1 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/.
  12. ↑ 12.0 12.1 12.2 URL: http://emedicine.medscape.com/article/1111629-diagnosis. Accessed on: 3 February 2011.
  13. ↑ URL: http://www.healthcare.uiowa.edu/dermatology/DPT/Path-Index.htm. Accessed on: 3 February 2011.
  14. ↑ Thomas DB, Sidler AK, Huston BM (October 1998). "Radiological case of the month. Juvenile xanthogranuloma". Arch Pediatr Adolesc Med 152 (10): 1029–30. PMID 9790615. http://archpedi.ama-assn.org/cgi/content/full/152/10/1029.

External links

Cases

Retrieved from "https://librepathology.org/w/index.php?title=Pediatric_pathology&oldid=3941"