Case Reports
doi: 10.1016/0887-8994(92)90038-z.
Abnormal dendritic development in maple syrup urine disease
Affiliations
- PMID: 1580959
- DOI: 10.1016/0887-8994(92)90038-z
Item in Clipboard
Case Reports
Abnormal dendritic development in maple syrup urine disease
Pediatr Neurol.
1992 Mar-Apr.
Abstract
The neuropathology of a 6-year-old boy with maple syrup urine disease revealed spongy appearance of the white matter and marked edema of the brainstem. Golgi studies demonstrated aberrant orientation of neurons together with abnormalities of dendrites and dendritic spines. Similar changes were observed in a patient with dihydropteridine reductase deficiency. Disorders of amino acid metabolism may be associated with alterations in the terminal stages of neuronal migration and maturation.
Similar articles
-
Cortical dysgenesis in a variant of phenylketonuria (dihydropteridine reductase deficiency).Pediatr Pathol. 1991 Sep-Oct;11(5):771-9. doi: 10.3109/15513819109065472. Pediatr Pathol. 1991. PMID: 1745643
-
Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India.J Child Neurol. 2007 Jul;22(7):911-3. doi: 10.1177/0883073807304003. J Child Neurol. 2007. PMID: 17715290
-
[The intermediate form of maple syrup disease].Klin Padiatr. 1986 Jan-Feb;198(1):37-43. doi: 10.1055/s-2008-1026850. Klin Padiatr. 1986. PMID: 3959487 German.
-
Cytoskeleton as a potential target in the neuropathology of maple syrup urine disease: insight from animal studies.J Inherit Metab Dis. 2007 Oct;30(5):664-72. doi: 10.1007/s10545-007-0562-6. Epub 2007 Jun 14. J Inherit Metab Dis. 2007. PMID: 17574538 Review.
-
[Spongious dystrophies].Verh Dtsch Ges Pathol. 1968;52:126-42. Verh Dtsch Ges Pathol. 1968. PMID: 4182221 Review. German. No abstract available.
Cited by
-
Structural white matter changes in adolescents and young adults with maple syrup urine disease.J Inherit Metab Dis. 2013 Nov;36(6):945-53. doi: 10.1007/s10545-012-9582-y. Epub 2013 Jan 25. J Inherit Metab Dis. 2013. PMID: 23355088
-
Animal models of maple syrup urine disease.J Inherit Metab Dis. 2009 Apr;32(2):229-46. doi: 10.1007/s10545-009-1086-z. Epub 2009 Mar 9. J Inherit Metab Dis. 2009. PMID: 19263237 Review.
-
Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy.J Inherit Metab Dis. 2012 Jan;35(1):71-9. doi: 10.1007/s10545-011-9333-5. Epub 2011 May 4. J Inherit Metab Dis. 2012. PMID: 21541722 Review.
-
Classical maple syrup urine disease and brain development: principles of management and formula design.Mol Genet Metab. 2010 Apr;99(4):333-45. doi: 10.1016/j.ymgme.2009.12.007. Epub 2010 Jan 12. Mol Genet Metab. 2010. PMID: 20061171 Free PMC article. Clinical Trial.
-
Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease.Brain. 2009 Apr;132(Pt 4):903-18. doi: 10.1093/brain/awp024. Epub 2009 Mar 17. Brain. 2009. PMID: 19293241 Free PMC article.
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
Medical
