Difference between revisions of "Pediatric pathology"

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[[Image:Wilms tumor.jpg|thumb|right|250px|[[Gross pathology|Gross]] image of a [[Wilms tumour]], a tumour common in pediatric pathology. (WC/AFIP)]]
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.
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=
==DiGeorge syndrome==
{{Main|DiGeorge syndrome}}
==Noonan syndrome==
*Many different problems.<ref name=omim163950>{{OMIM|163950}}</ref>
*Mutation in ''PTPN11 gene''.
**This gene is also implicated in multiple [[granular cell tumour]]s.
===Cardiac===
*May be associated with [[cardiomyopathy]]: [[DCM]], [[RCM]].
==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).<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/105830 http://www.ncbi.nlm.nih.gov/omim/105830]. Accessed on: 28 January 2011.</ref>
*Mental retardation.
Notes:
*Loss of the maternal imprinting pattern on 15q leads to Prader-Willi syndrome.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/176270 http://www.ncbi.nlm.nih.gov/omim/176270]. Accessed on: 28 January 2011.</ref>
=Gastrointestinal pathology=
{{Main|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]].
=Pulmonary pathology=
==Respiratory distress syndrome==
*Abbreviated ''RDS''.
**Should not be confused with ''[[acute respiratory distress syndrome]]'' (ARDS).
*Previously known as ''hyaline membrane disease''.
===General===
Associations:
*Prematurity.
*Maternal diabetes.<ref name=pmid22094826>{{Cite journal  | last1 = Hay | first1 = WW. | title = Care of the Infant of the Diabetic Mother. | journal = Curr Diab Rep | volume =  | issue =  | pages =  | month = Nov | year = 2011 | doi = 10.1007/s11892-011-0243-6 | PMID = 22094826 }}</ref>
Etiology:
*Not enough lung surfactant -> alveolar collapse with exhalation -> increased work of breathing.
Complications of oxygen therapy:<ref name=Ref_PCPBoD8_244>{{Ref PCPBoD8|244}}</ref>
*Retinopathy of prematurity.
*[[Bronchopulmonary dysplasia]].
===Microscopic===
Features:<ref name=Ref_PCPBoD8_243>{{Ref PCPBoD8|243}}</ref>
*Proteineous (cellular) debris (hyaline membranes) line alveoli and respiratory bronchioles.
Note:
*Similar to ''[[diffuse alveolar damage]]''.
=Cardiovascular pathology=
==Congenital heart disease==
{{Main|Congenital heart disease}}
This is a huge topic.


==Persistent pulmonary hypertension of the newborn==
==Persistent pulmonary hypertension of the newborn==
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*Birth asphyxia.  
*Birth asphyxia.  


==Williams syndrome==
*Supravalvular stenosis.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/194050 http://www.ncbi.nlm.nih.gov/omim/194050]. Accessed on: 11 January 2011.</ref>
=Neuropathology=
==Hypoxic-ischemic encephalopathy==
==Hypoxic-ischemic encephalopathy==
{{Main|Neuropathology}}
{{Main|Neuropathology}}
*Abbreviated ''HIE''.
===General===
*Autopsy adds some information.
*Autopsy adds some information.
*Two-tone liver - suggests prior injury.<ref name=pmid15957995>{{cite journal |author=Elder DE, Zuccollo JM, Stanley TV |title=Neonatal death after hypoxic ischaemic encephalopathy: does a postmortem add to the final diagnoses? |journal=BJOG |volume=112 |issue=7 |pages=935–40 |year=2005 |month=July |pmid=15957995 |doi=10.1111/j.1471-0528.2005.00608.x |url=}}</ref>
*Two-tone liver - suggests prior injury.<ref name=pmid15957995>{{cite journal |author=Elder DE, Zuccollo JM, Stanley TV |title=Neonatal death after hypoxic ischaemic encephalopathy: does a postmortem add to the final diagnoses? |journal=BJOG |volume=112 |issue=7 |pages=935–40 |year=2005 |month=July |pmid=15957995 |doi=10.1111/j.1471-0528.2005.00608.x |url=}}</ref>
*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.<ref name=pmid11876572>{{cite journal |author=Grafe MR, Kinney HC |title=Neuropathology associated with stillbirth |journal=Semin. Perinatol. |volume=26 |issue=1 |pages=83–8 |year=2002 |month=February |pmid=11876572 |doi= |url=}}</ref>
**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.<ref>URL: [http://emedicine.medscape.com/article/973501-overview http://emedicine.medscape.com/article/973501-overview]. Accessed on: 7 January 2011.</ref>
===Possible findings in HIE===
Hemorrhagic lesions:<ref name=pmid20626887 >{{cite journal |author=Riezzo I, Neri M, De Stefano F, ''et al.'' |title=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 |journal=Diagn Pathol |volume=5 |issue= |pages=49 |year=2010 |pmid=20626887 |pmc=2914029 |doi=10.1186/1746-1596-5-49 |url=}}</ref>
*Germinal matrix & intraventricular hemorrhage.
*Choroid plexus hemorrhage.
*Cerebellar hemorrhage.
*Subpial hemorrhage.
White matter lesions:<ref name=pmid20626887/>
*[[Periventricular leukomalacia]].
*Subcortical leukomalacia.
*Telencephalic (cerebral) leukomalacia.
Grey matter lesions:<ref name=pmid20626887/>
*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.<ref name=pmid19816235>{{cite journal |author=Ballabh P |title=Intraventricular hemorrhage in premature infants: mechanism of disease |journal=Pediatr. Res. |volume=67 |issue=1 |pages=1–8 |year=2010 |month=January |pmid=19816235 |pmc=2799187 |doi=10.1203/PDR.0b013e3181c1b176 |url=}}</ref>
**Location: periventricular; may cause an intraventricular hemorrhage.
***Image: [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799187/figure/F1/ Germinal matrix (nlm.nih.gov)].<ref name=pmid19816235/>
*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.
===Periventricular leukomalacia===
Features:<ref name=pmid12416551>{{Cite journal  | last1 = Rezaie | first1 = P. | last2 = Dean | first2 = A. | title = Periventricular leukomalacia, inflammation and white matter lesions within the developing nervous system. | journal = Neuropathology | volume = 22 | issue = 3 | pages = 106-32 | month = Sep | year = 2002 | doi =  | PMID = 12416551 }}</ref>
*Multifocal [[necrosis]] of the cortical white matter adjacent to the lateral ventricles.
*Usually symmetric.
=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|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|Rhabdomyosarcoma}}
This covers RMS.  A good starting point if you're considering this entity is the ''[[small round cell tumours]]'' article.
==Hepatoblastoma==
{{Main|Hepatoblastoma}}
A good starting point if you're considering this entity is the ''[[small round cell tumours]]'' article.
==Lymphoma==
{{Main|Lymphoma}}
In reference to malignancies, these are very common in children.
==Neuroblastoma==
{{Main|Neuroblastoma}}
A good starting point if you're considering this entity is the ''[[small round cell tumours]]'' article.
=Dermatopathology=
{{Main|Dermatopathology}}
==Juvenile xanthogranuloma==
{{Main|Juvenile xanthogranuloma}}
=Soft tissue lesions=
{{Main|Soft tissue lesions}}
The histomorphology can look very malignant when viewed through the context of adult [[soft tissue pathology]].<ref>{{Ref PCPBoD8|252}}</ref>


==References==
=References=
{{Reflist|2}}
{{Reflist|2}}


==External links==
=External links=
*[http://www.surgical-pathology.com/paediatric_pathology.htm Paediatric pathology (surgical-pathology.com)].
*[http://www.surgical-pathology.com/paediatric_pathology.htm Paediatric pathology (surgical-pathology.com)].
*[http://www.spponline.org/ Society for pediatric pathology (spponline.org)].
*[http://www.spponline.org/ Society for pediatric pathology (spponline.org)].


===Cases===
==Cases==
*[http://www.urmc.rochester.edu/pathology_lab_medicine/research_academics/pediatric_pathology/cases.cfm Pediatric pathology cases (rochester.edu)].
*[http://www.urmc.rochester.edu/pathology_lab_medicine/research_academics/pediatric_pathology/cases.cfm Pediatric pathology cases (rochester.edu)].
*Cases from UMPC:
*Cases from UMPC:
Line 33: Line 175:
*[http://www.sppg.ch/ Swiss pediatric pathology group (sppg.ch)].
*[http://www.sppg.ch/ Swiss pediatric pathology group (sppg.ch)].


[[Category:Weird stuff]]
[[Category:Pediatric pathology]]

Latest revision as of 05:54, 12 January 2015

Gross image of a Wilms tumour, a tumour common in pediatric pathology. (WC/AFIP)

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

DiGeorge syndrome

Main article: DiGeorge syndrome

Noonan syndrome

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:

Pulmonary pathology

Respiratory distress syndrome

General

Associations:

  • Prematurity.
  • Maternal diabetes.[4]

Etiology:

  • Not enough lung surfactant -> alveolar collapse with exhalation -> increased work of breathing.

Complications of oxygen therapy:[5]

Microscopic

Features:[6]

  • Proteineous (cellular) debris (hyaline membranes) line alveoli and respiratory bronchioles.

Note:

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.[7]

Associations:[8]

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

Williams syndrome

  • Supravalvular stenosis.[9]

Neuropathology

Hypoxic-ischemic encephalopathy

Main article: Neuropathology
  • 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]

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.

Grading:

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

Periventricular leukomalacia

Features:[15]

  • Multifocal necrosis of the cortical white matter adjacent to the lateral ventricles.
  • Usually symmetric.

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

Main article: Juvenile xanthogranuloma

Soft tissue lesions

Main article: Soft tissue lesions

The histomorphology can look very malignant when viewed through the context of adult soft tissue pathology.[16]

References

  1. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 163950
  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. ↑ Hay, WW. (Nov 2011). "Care of the Infant of the Diabetic Mother.". Curr Diab Rep. doi:10.1007/s11892-011-0243-6. PMID 22094826.
  5. ↑ 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. 244. ISBN 978-1416054542.
  6. ↑ 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. 243. ISBN 978-1416054542.
  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/.
  15. ↑ Rezaie, P.; Dean, A. (Sep 2002). "Periventricular leukomalacia, inflammation and white matter lesions within the developing nervous system.". Neuropathology 22 (3): 106-32. PMID 12416551.
  16. ↑ 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.

External links

Cases

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