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Difference between revisions of "Pediatric gastrointestinal pathology"
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Pediatric gastrointestinal pathology (view source)
Revision as of 13:52, 30 January 2014
, 13:52, 30 January 2014→Abetalipoproteinemia
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*Rare genetic disorder.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/200100 http://www.ncbi.nlm.nih.gov/omim/200100]. Accessed on: 6 April 2011.</ref><ref>{{cite journal |author=Bassen FA, Kornzweig AL |title=Malformation of the erythrocytes in a case of atypical retinitis pigmentosa |journal=Blood |volume=5 |issue=4 |pages=381–87 |year=1950 |month=April |pmid=15411425 |doi= |url=}}</ref> | *Rare genetic disorder.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/200100 http://www.ncbi.nlm.nih.gov/omim/200100]. Accessed on: 6 April 2011.</ref><ref>{{cite journal |author=Bassen FA, Kornzweig AL |title=Malformation of the erythrocytes in a case of atypical retinitis pigmentosa |journal=Blood |volume=5 |issue=4 |pages=381–87 |year=1950 |month=April |pmid=15411425 |doi= |url=}}</ref> | ||
*GI-related symptoms similar to [[celiac disease]] - malabsorption. | *GI-related symptoms similar to [[celiac disease]] - malabsorption. | ||
Clinical features:<ref name=pmid24139731>{{Cite journal | last1 = Hammer | first1 = MB. | last2 = El Euch-Fayache | first2 = G. | last3 = Nehdi | first3 = H. | last4 = Feki | first4 = M. | last5 = Maamouri-Hicheri | first5 = W. | last6 = Hentati | first6 = F. | last7 = Amouri | first7 = R. | title = Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. | journal = J Clin Neurosci | volume = 21 | issue = 2 | pages = 311-5 | month = Feb | year = 2014 | doi = 10.1016/j.jocn.2013.04.016 | PMID = 24139731 }}</ref> | |||
*Failure to thrive. | |||
*Pigmented retinopathy. | |||
Blood work:<ref name=pmid24139731/> | |||
*Cholesterol - low. | |||
*Triglyceride - low. | |||
*Apolipoprotein B - very low. | |||
===Microscopic=== | ===Microscopic=== | ||