Difference between revisions of "Pediatric pathology"
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*Aganglionosis (Hirschsprung disease). | *Aganglionosis (Hirschsprung disease). | ||
*Meconium peritonitis. | *Meconium peritonitis. | ||
*Necrotizing enterocolitis. | |||
=Cardiovascular pathology= | =Cardiovascular pathology= | ||
Revision as of 15:33, 1 February 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
Main article: 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.
Cardiovascular pathology
Persistent pulmonary hypertension of the newborn
- Abbreviated PPHN.
- Related to patent ductus arteriosus and persistent fetal circulation.[4]
Associations:[5]
- Meconium aspiration.
- Anemia.
- Infection.
- Pneumonia (severe).
- Hypoglycemia.
- Birth asphyxia.
Williams syndrome
- Supravalvular stenosis.[6]
Neuropathology
Hypoxic-ischemic encephalopathy
Main article: Neuropathology
- Abbreviated HIE.
General
- Autopsy adds some information.
- Two-tone liver - suggests prior injury.[7]
- 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.[8]
- 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.[9]
Possible findings in HIE
Hemorrhagic lesions:[10]
- Germinal matrix & intraventricular hemorrhage.
- Choroid plexus hemorrhage.
- Cerebellar hemorrhage.
- Subpial hemorrhage.
White matter lesions:[10]
- Periventricular leukomalacia.
- Subcortical leukomalacia.
- Telencephalic (cerebral) leukomalacia.
Grey matter lesions:[10]
- 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.[11]
- 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.
- ↑ 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.
- ↑ 10.0 10.1 10.2 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/.
- ↑ 11.0 11.1 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/.