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Pediatric pathology (view source)

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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.


==Gastrointestinal pathology==
=Syndromes=
===Aganglionosis===
==DiGeorge syndrome==
*[[AKA]] Hirschsprung disease.
{{Main|DiGeorge syndrome}}
====General====
==Noonan syndrome==
*Congenital.
*Many different problems.<ref name=omim163950>{{OMIM|163950}}</ref>
*Fixed by surgery.
*Mutation in ''PTPN11 gene''.
**This gene is also implicated in multiple [[granular cell tumour]]s.


Pathology:
===Cardiac===
*Parasympathetic ganglion cells in intramural and submucosal plexuses - not present.<ref name=pathcon_hirschsprung>URL: [[http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970813-0] [http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970813-0]]. Accessed on: 11 January 2011.</ref>
*May be associated with [[cardiomyopathy]]: [[DCM]], [[RCM]].


====Microscopic====
==Angelmann syndrome==
Features:<ref name=pathcon_hirschsprung/>
*[[AKA]] happy puppet syndrome.
*Ganglion cells missing in submucosal plexus and myenteric plexus.
*+/-Submucosal fibrosis.


====Stains====
===General===
*Acetylcholinesterase: abundant, disorganized, nerve fibers.
*Loss of a gene on 15q.
*CD117. (???)
**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>


Images:
=Gastrointestinal pathology=
*[http://66.244.141.33/colorectal-Hirschsprung-disease Hirschsprung disease - collection (66.244.141.33)].
{{Main|Pediatric gastrointestinal pathology}}
*[http://pathology.mc.duke.edu/research/Histo_course/myent_plexus.jpg Normal myenteric plexus (duke.edu)].<ref>URL: [http://pathology.mc.duke.edu/research/PTH225.html http://pathology.mc.duke.edu/research/PTH225.html]. Accessed on: 11 January 2011.</ref>


===Meconium peritonitis===
GI is a big part pediatric pathology and therefore gets its own article.
====General====
*May be due to a number of causes:
**Aganglionosis (Hirschsprung disease).
**Meconium ileus.


====Microscopic====
Among others, things discussed include:
Features:
*[[Cystic fibrosis]].
*Brown granular material - '''key feature'''.
*[[Aganglionosis]] (Hirschsprung disease).
*+/-Multinucleated giant cells.
*[[Meconium peritonitis]].
*Inflammatory infiltrate (PMNs, lymphocytes, plasma cells).
*[[Necrotizing enterocolitis]].


Image:
=Pulmonary pathology=
*[http://www.pathologyoutlines.com/caseofweek/case2008106image2.jpg Meconium peritonitis - gross (pathologyoutlines.com)].
==Respiratory distress syndrome==
*Abbreviated ''RDS''.
**Should not be confused with ''[[acute respiratory distress syndrome]]'' (ARDS).
*Previously known as ''hyaline membrane disease''.


===Necrotizing enterocolitis===
===General===
====General====
Associations:
*Disease of the newborn.
*Prematurity.
*Diagnosed by imaging.
*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>


====Microscopic====
Etiology:  
Features:
*Not enough lung surfactant -> alveolar collapse with exhalation -> increased work of breathing.
*Large spaces.


Images:
Complications of oxygen therapy:<ref name=Ref_PCPBoD8_244>{{Ref PCPBoD8|244}}</ref>
*[http://en.wikipedia.org/wiki/File:Neonatal_necrotizing_enterocolitis,_gross_pathology_20G0021_lores.jpg NEC - gross (WP)].
*Retinopathy of prematurity.
*[http://cueflash.com/cardimages/answers/thumbnails/7/4/7747308.jpg NEC - micro. (cueflash.com)].<ref>URL: [http://cueflash.com/decks/Pathology_Pediatrics http://cueflash.com/decks/Pathology_Pediatrics]. Accessed on: 11 January 2011.</ref>
*[[Bronchopulmonary dysplasia]].


===Pancreatic islet cell hyperplasia===
===Microscopic===
====General====
Features:<ref name=Ref_PCPBoD8_243>{{Ref PCPBoD8|243}}</ref>
*Assoc. with maternal diabetes.
*Proteineous (cellular) debris (hyaline membranes) line alveoli and respiratory bronchioles.


====Microscopic====
Note:
Features:
*Similar to ''[[diffuse alveolar damage]]''.
*Marked size variation of pancreatic islets.
**Normal islets ~ 150 micrometers (diameter).  Hyperplastic islets - up to ~500 micrometers (diameter).


Image:
=Cardiovascular pathology=
*[http://eulep.pdn.cam.ac.uk/pathbase2/Search_Pathbase/factsheet.php?image_number=3297 Islet cell hyperplasia - mouse (cam.ac.uk)].
==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}}
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*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>  
*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.
**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.
***''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. (???)
**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>
*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>
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White matter lesions:<ref name=pmid20626887/>
White matter lesions:<ref name=pmid20626887/>
*Periventricular leukomalacia.
*[[Periventricular leukomalacia]].
*Subcortical leukomalacia.
*Subcortical leukomalacia.
*Telencephalic (cerebral) leukomalacia.
*Telencephalic (cerebral) leukomalacia.
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*The germinal matrix is thought to be intrinsically fragile and is especially so in premature infants.
*The germinal matrix is thought to be intrinsically fragile and is especially so in premature infants.


==References==
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=
{{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:
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*[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]]
Michael
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