ArticleNeurogastroenterology and motility2025
Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome.
Article in Neurogastroenterology and motility, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.
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Who cites it
1 citing paper in PubMed, 1 synthesis or guideline pooled it.
- Congenital hypoganglionosis: phenotype-based outcomes and evolution of diagnosis and management-a systematic review.Pediatric surgery international · 2026Pooled it
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Authors and funding
4 authors.
Funding
Abstract
objectivesThe aim was to assess the neuroglial compartment in the myenteric plexus of two subjects with genetically verified Waardenburg syndrome (WS) type 4 (WS4) and to compare the outcome with four "age-matched" controls.
designGut samples from four control cases and from two newborn subjects with WS4, one with peripheral demyelinating neuropathy, dysmyelinating leukodystrophy, WS and Hirschprung disease (PCWH) (SOX10, c.769A>T, p.Lys257*) and one with Waardenburg-Shah syndrome (WSS) (EDN3, c.472C>T,p.Arg158Cys)-were assessed histologically and immunohistochemically. Antibodies directed to glial cells (SOX10), ganglion cells (HuC/D), and interstitial cells of Cajal (CD117) were applied.
resultsFor the child with PCWH syndrome, both the small and large intestine showed a reduction in the number of glial cells (SOX10), in parallel with hypoganglionosis (HuC/D), when compared with "age-matched" controls. In the child with WSS, a severe reduction in the number of glial cells (SOX10) was observed in both the small and large intestine accompanied by aganglionosis (HuC/D) with a skipped segment. The number of interstitial cells of Cajal (CD117) appeared unaffected in both PCWH and WSS cases.
conclusionA severe reduction of glial cells and a severe reduction or loss of ganglion cells (the number of cells assessed per unit length), were seen in our study subjects when compared with "age-matched" controls. Contrary to the above the presence of Cajal cells was unaffected.
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