Jack C I, Morris A I, Nasmyth D G, Carroll N
Royal Liverpool Hospital, UK.
Postgrad Med J. 1991 Jun;67(788):584-5. doi: 10.1136/pgmj.67.788.584.
The case of a 54 year old man with Fabry's disease and extensive jejunal and colonic diverticulosis causing colonic stricture is presented. Histological examination of the resected colon revealed evidence of ceramide trihexose deposition in the myenteric nerve plexus. Colonic involvement in Fabry's disease has not been reported before.
本文报告了一例54岁男性患者，患有法布里病，伴有广泛的空肠和结肠憩室病，导致结肠狭窄。对切除结肠的组织学检查显示，肌间神经丛中有神经酰胺三己糖沉积的证据。此前尚未有法布里病累及结肠的报道。
