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Difference between revisions of "Neuropathology"
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→Paediatric pathology: more
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=Paediatric pathology= | =Paediatric pathology= | ||
==Kernicterus== | |||
===General=== | |||
*Due to hyperbilirubinemia.<ref name=pmid7063283>{{Cite journal | last1 = Turkel | first1 = SB. | last2 = Miller | first2 = CA. | last3 = Guttenberg | first3 = ME. | last4 = Moynes | first4 = DR. | last5 = Godgman | first5 = JE. | title = A clinical pathologic reappraisal of kernicterus. | journal = Pediatrics | volume = 69 | issue = 3 | pages = 267-72 | month = Mar | year = 1982 | doi = | PMID = 7063283 }}</ref> | |||
**Should be associated with clinical elevation of bilirubin. | |||
===Gross=== | |||
*Yellow staining of the basal ganglia.<ref name=pmid10920171>{{Cite journal | last1 = Hansen | first1 = TW. | last2 = Hervieux | first2 = JF. | last3 = Orth | first3 = J. | last4 = Schmorl | first4 = CG. | last5 = Baumes | first5 = JB. | title = Pioneers in the scientific study of neonatal jaundice and kernicterus. | journal = Pediatrics | volume = 106 | issue = 2 | pages = E15 | month = Aug | year = 2000 | doi = | PMID = 10920171 }}</ref> | |||
Note: | |||
*May not be specific.<ref name=pmid7063283/> | |||
Image: | |||
*[http://farm7.static.flickr.com/6106/6275988844_422aec89c7.jpg Kernicterus (flickr.com)]. | |||
===Joubert syndrome=== | ===Joubert syndrome=== | ||
*Malformation of the cerebellar vermis.<ref name=ninds_joubert>[http://www.ninds.nih.gov/disorders/joubert/joubert.htm http://www.ninds.nih.gov/disorders/joubert/joubert.htm]</ref> | *Malformation of the cerebellar vermis.<ref name=ninds_joubert>[http://www.ninds.nih.gov/disorders/joubert/joubert.htm http://www.ninds.nih.gov/disorders/joubert/joubert.htm]</ref> | ||
===Epidemiology=== | ===Epidemiology=== | ||
*Autosomal recessive - mutation in a number of genes including NPHP1, AHI1, and CEP290.<ref name=ninds_joubert/> | *Autosomal recessive - mutation in a number of genes including NPHP1, AHI1, and CEP290.<ref name=ninds_joubert/> | ||
=Weird stuff= | =Weird stuff= | ||