Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome

The 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.

Gut 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.

For 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.

A 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.