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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.


=Syndromes=
=Syndromes=
==DiGeorge syndrome==
{{Main|DiGeorge syndrome}}
==Noonan syndrome==
==Noonan syndrome==
*Many different problems.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/163950 http://www.ncbi.nlm.nih.gov/omim/163950]. Accessed on: 13 January 2011.</ref>
*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===
===Cardiac===
*May be associated with [[cardiomyopathy]]: DCM, RCM.
*May be associated with [[cardiomyopathy]]: [[DCM]], [[RCM]].


==Angelmann syndrome==
==Angelmann syndrome==
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Among others, things discussed include:
Among others, things discussed include:
*Cystic fibrosis.
*[[Cystic fibrosis]].
*Aganglionosis (Hirschsprung disease).
*[[Aganglionosis]] (Hirschsprung disease).
*Meconium peritonitis.
*[[Meconium peritonitis]].
*Necrotizing enterocolitis.
*[[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=
=Cardiovascular pathology=
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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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*Grade 3 = distortion of ventricle.
*Grade 3 = distortion of ventricle.
*Grade 4 = disruption of white matter.
*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=
=Pediatric tumours=
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{{Main|Dermatopathology}}
{{Main|Dermatopathology}}
==Juvenile xanthogranuloma==
==Juvenile xanthogranuloma==
*Abbreviated as ''JXG''.
{{Main|Juvenile xanthogranuloma}}
*[[AKA]] nevoxanthoendothelioma.
 
===General===
*Benign skin thingy in children and infants.
*Most common form of non–Langerhans cell histiocytosis.<ref name=emed_jxg>URL: [http://emedicine.medscape.com/article/1111629-diagnosis http://emedicine.medscape.com/article/1111629-diagnosis]. Accessed on: 3 February 2011.</ref>
 
===Microscopic===
Features:<ref name=emed_jxg>URL: [http://emedicine.medscape.com/article/1111629-diagnosis http://emedicine.medscape.com/article/1111629-diagnosis]. Accessed on: 3 February 2011.</ref>
*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:
*[http://www.healthcare.uiowa.edu/dermatology/DPT/Hist%5CJXG003.jpg JXG (uiowa.edu)].<ref>URL: [http://www.healthcare.uiowa.edu/dermatology/DPT/Path-Index.htm http://www.healthcare.uiowa.edu/dermatology/DPT/Path-Index.htm]. Accessed on: 3 February 2011.</ref>
 
Notes:
*Must prove they are non-Langerhans cell histiocytes, esp. if no Touton giant cells.
 
===IHC===
Features:<ref name=emed_jxg/>
*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:<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>
*Muscle markers: actin, desmin.
*Others: S100, factor VIII, cytokeratins.


=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>
{{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>
==Congenital infantile fibrosarcoma==
===General===
*Locally aggressive.
 
===Microscopic===
Features:<ref name=pmid7839472>{{Cite journal  | last1 = Corsi | first1 = A. | last2 = Boldrini | first2 = R. | last3 = Bosman | first3 = C. | title = Congenital-infantile fibrosarcoma: study of two cases and review of the literature. | journal = Tumori | volume = 80 | issue = 5 | pages = 392-400 | month = Oct | year = 1994 | doi =  | PMID = 7839472 }}</ref>
*Spindle cell lesions.
 
===Molecular===
Characteristic finding:<ref>{{Cite journal  | last1 = Sheng | first1 = WQ. | last2 = Hisaoka | first2 = M. | last3 = Okamoto | first3 = S. | last4 = Tanaka | first4 = A. | last5 = Meis-Kindblom | first5 = JM. | last6 = Kindblom | first6 = LG. | last7 = Ishida | first7 = T. | last8 = Nojima | first8 = T. | last9 = Hashimoto | first9 = H. | title = Congenital-infantile fibrosarcoma. A clinicopathologic study of 10 cases and molecular detection of the ETV6-NTRK3 fusion transcripts using paraffin-embedded tissues. | journal = Am J Clin Pathol | volume = 115 | issue = 3 | pages = 348-55 | month = Mar | year = 2001 | doi = 10.1309/3H24-E7T7-V37G-AKKQ | PMID = 11242790 }}</ref>
*t(12;15)(p13;q25)
**Gene fusion ETV6-NTRK3.


=References=
=References=
Michael
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