Difference between revisions of "Pediatric pathology"

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=Soft tissue lesions=
=Soft tissue lesions=
The histomorphology can look very malignant when viewed through the context of adult soft tissue pathology.<ref>{{Ref PCPBoD8|252}}</ref>
The histomorphology can look very malignant when viewed through the context of adult [[soft tissue pathology]].<ref>{{Ref PCPBoD8|252}}</ref>


==Congenital infantile fibrosarcoma==
==Congenital infantile fibrosarcoma==

Revision as of 04:36, 13 May 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.

Grading:

  • Grade 1 = confined to germinal matrix.
  • Grade 2 = ventricular hemorrhage.
  • Grade 3 = distortion of ventricle.
  • Grade 4 = disruption of white matter.

Pediatric tumours

Many pediatric tumours have a "primative" histologic appearance and can be grouped into the category small round cell tumour, which is covered in the article having that name and gives an overview of that grouping.

Wilms tumour

AKA nephroblastoma.
Main article: Wilms tumour

Most common abdominal solid organ malignancy in children. A good starting point if you're considering this entity is the small round cell tumours article.

Rhadomyosarcoma

Commonly abbreviated RMS.
Main article: Rhabdomyosarcoma

This covers RMS. A good starting point if you're considering this entity is the small round cell tumours article.

Hepatoblastoma

Main article: Hepatoblastoma

A good starting point if you're considering this entity is the small round cell tumours article.

Lymphoma

Main article: Lymphoma

In reference to malignancies, these are very common in children.

Neuroblastoma

Main article: Neuroblastoma

A good starting point if you're considering this entity is the small round cell tumours article.

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.

Soft tissue lesions

The histomorphology can look very malignant when viewed through the context of adult soft tissue pathology.[15]

Congenital infantile fibrosarcoma

General

  • Locally aggressive.

Microscopic

Features:[16]

  • Spindle cell lesions.

Molecular

Characteristic finding:[17]

  • t(12;15)(p13;q25)
    • Gene fusion ETV6-NTRK3.

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.
  15. ↑ 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. 252. ISBN 978-1416054542.
  16. ↑ Corsi, A.; Boldrini, R.; Bosman, C. (Oct 1994). "Congenital-infantile fibrosarcoma: study of two cases and review of the literature.". Tumori 80 (5): 392-400. PMID 7839472.
  17. ↑ Sheng, WQ.; Hisaoka, M.; Okamoto, S.; Tanaka, A.; Meis-Kindblom, JM.; Kindblom, LG.; Ishida, T.; Nojima, T. et al. (Mar 2001). "Congenital-infantile fibrosarcoma. A clinicopathologic study of 10 cases and molecular detection of the ETV6-NTRK3 fusion transcripts using paraffin-embedded tissues.". Am J Clin Pathol 115 (3): 348-55. doi:10.1309/3H24-E7T7-V37G-AKKQ. PMID 11242790.

External links

Cases

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