Neuropathological findings of a patient with pyruvate dehydrogenase E1α deficiency presenting as a cerebral lactic acidosis
Clicks: 247
ID: 114663
1970
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This
article has not been analysed, so there is no overall score —
reader engagement is measured and shown alongside.
Reader Engagement
Popular Article
30.0
/100
247 views
39 readers
AI Quality Assessment
Not analyzed
Readership in this journal
PopularRanked #56 of 438 articles by views in acta neuropathologica
Most read
Least read
Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 438 in total.
Mint this article as an NFT
Not yet mintedCreate a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.
5
SUSD
one-off · no wallet required
Abstract
Neuropathological findings are reported of a 6-month-old female child with a “cerebral” lactic acidosis. A mutation in the pyruvate dehydrogenase (PDH) E1α gene was found. Gross examination of the brain revealed a severe thinning of the cerebral parenchym, a marked hydrocephalus sparing the aqueduct and fourth ventricle, agenesis of the corpus callosum and heterotopic noduli of gray matter in subependymal regions. Microscopical examination showed heterotopic inferior olives, absent pyramids and focal neuroglial overgrowth into meninges. In addition some heterotopia of Purkinje cells and dysplasia of the dentate nuclei were observed. There was a marked vascular proliferation with many thin-walled, congestive vessels in the cerebral and cerebellar white matter, and to a lesser extent in the striatum. To our knowledge these cerebellar and vascular abnormalities have not been reported before in patients with “cerebral” lactic acidosis. The combination of these neuropathological findings might be characteristic for PDH deficiency and more specifically for its E1α subtype. Neuropathological examination could lead to the retrospective diagnosis of PDH E1α deficiency in those cases where biochemical investigations were not or incompletely performed. This may have potential implications for genetic counseling.
| Reference Key |
michotte1970actaneuropathological
Use this key to autocite in the manuscript while using
SciMatic Manuscript Manager or Thesis Manager
|
|---|---|
| Authors | A. Michotte;L. De Meirleir;W. Lissens;R. Denis;J. L. Wayenberg;I. Liebaers;J. M. Brucher;A. Michotte;L. De Meirleir;W. Lissens;R. Denis;J. L. Wayenberg;I. Liebaers;J. M. Brucher; |
| Journal | acta neuropathologica |
| Year | 1970 |
| DOI |
doi:10.1007/BF00334680
|
| URL | |
| Keywords |
Citations
No citations found. To add a citation, contact the admin at info@scimatic.org
Comments
No comments yet. Be the first to comment on this article.