Difference between revisions of "Pediatric pathology"

From Libre Pathology
Jump to navigation Jump to search
 
(24 intermediate revisions by the same user not shown)
Line 1: Line 1:
[[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==
Line 25: Line 30:


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=
Line 71: Line 101:


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.
Line 90: Line 120:
*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=
Line 119: Line 154:
{{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=
{{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>
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=

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

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

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

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

  • 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.

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.

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

Hepatoblastoma

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

Lymphoma

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

Neuroblastoma

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

Dermatopathology

Juvenile xanthogranuloma

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