Difference between revisions of "Pediatric pathology"
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===General=== | ===General=== | ||
*Loss of a gene on | *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). | **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. | *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= | =Gastrointestinal pathology= | ||
Revision as of 07:16, 28 January 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
- 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).[2]
- Mental retardation.
Notes:
- Loss of the maternal imprinting pattern on 15q leads to Prader-Willi syndrome.[3]
Gastrointestinal pathology
Cystic fibrosis
- Abbreviated CF.
General
- Genetic.
- May lead to meconium ileus.
Microscopic (large bowel)
Features:[4]
- Crypt enlargement.
Notes:
- Not intracellular and extracellular accumulation of mucus. (?)
Aganglionosis
- AKA Hirschsprung disease.
General
- Congenital.
- Fixed by surgery.
Pathology:
- Parasympathetic ganglion cells in intramural and submucosal plexuses - not present.[5]
Notes:
- Most common reason for litigation in paediatric pathology.[6]
Microscopic
Features:[5]
- Ganglion cells missing in submucosal plexus and myenteric plexus.
- +/-Submucosal fibrosis.
Stains
- Acetylcholinesterase: abundant, disorganized, nerve fibers.
- CD117. (???)
Images:
Meconium peritonitis
General
- May be due to a number of causes:
- Aganglionosis (Hirschsprung disease).
- Meconium ileus.
Microscopic
Features:
- Brown granular material - key feature.
- +/-Multinucleated giant cells.
- Inflammatory infiltrate (PMNs, lymphocytes, plasma cells).
Image:
Necrotizing enterocolitis
General
- Disease of the newborn.
- Diagnosed by imaging.
Microscopic
Features:
- Large spaces.
Images:
Pancreatic islet cell hyperplasia
General
- Assoc. with maternal diabetes.
Microscopic
Features:
- Marked size variation of pancreatic islets.
- Normal islets ~ 150 micrometers (diameter). Hyperplastic islets - up to ~500 micrometers (diameter).
Image:
Cardiovascular pathology
Persistent pulmonary hypertension of the newborn
- Abbreviated PPHN.
- Related to patent ductus arteriosus and persistent fetal circulation.[9]
Associations:[10]
- Meconium aspiration.
- Anemia.
- Infection.
- Pneumonia (severe).
- Hypoglycemia.
- Birth asphyxia.
Williams syndrome
- Supravalvular stenosis.[11]
Neuropathology
Hypoxic-ischemic encephalopathy
Main article: Neuropathology
- Abbreviated HIE.
General
- Autopsy adds some information.
- Two-tone liver - suggests prior injury.[12]
- 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.[13]
- 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. (???)
- Some hypoxic injuries that are prenatal do not occur after birth.
- HIE is the most common cause of neonatal seizures and often difficult to control with anticonvulsants.[14]
Possible findings in HIE
Hemorrhagic lesions:[15]
- Germinal matrix & intraventricular hemorrhage.
- Choroid plexus hemorrhage.
- Cerebellar hemorrhage.
- Subpial hemorrhage.
White matter lesions:[15]
- Periventricular leukomalacia.
- Subcortical leukomalacia.
- Telencephalic (cerebral) leukomalacia.
Grey matter lesions:[15]
- 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.[16]
- Location: periventricular; may cause an intraventricular hemorrhage.
- The germinal matrix is thought to be intrinsically fragile and is especially so in premature infants.
References
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/163950. Accessed on: 13 January 2011.
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/105830. Accessed on: 28 January 2011.
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/176270. Accessed on: 28 January 2011.
- ↑ Neutra MR, Trier JS (October 1978). "Rectal mucosa in cystic fibrosis. Morphological features before and after short term organ culture". Gastroenterology 75 (4): 701–10. PMID 710839.
- ↑ 5.0 5.1 URL: [[1] [2]]. Accessed on: 11 January 2011.
- ↑ GT. 19 January 2011.
- ↑ URL: http://pathology.mc.duke.edu/research/PTH225.html. Accessed on: 11 January 2011.
- ↑ URL: http://cueflash.com/decks/Pathology_Pediatrics. Accessed on: 11 January 2011.
- ↑ URL: http://www.thechildrenshospital.org/wellness/info/parents/20830.aspx. Accessed on: 4 January 2011.
- ↑ URL: http://www.thechildrenshospital.org/wellness/info/parents/20830.aspx. Accessed on: 4 January 2011.
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/194050. Accessed on: 11 January 2011.
- ↑ 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.
- ↑ Grafe MR, Kinney HC (February 2002). "Neuropathology associated with stillbirth". Semin. Perinatol. 26 (1): 83–8. PMID 11876572.
- ↑ URL: http://emedicine.medscape.com/article/973501-overview. Accessed on: 7 January 2011.
- ↑ 15.0 15.1 15.2 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/.
- ↑ 16.0 16.1 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/.