胃肠道和消化系统

抽象的

Ileocecal Appendix Involvement in Fabry Disease Mimicking an Acute Abdomen

Cristi E, Massari A, Ranalli TV, Gomes VV, Giannakakis K and Feriozzi S

Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body. The clinical picture is highly variable and depends on cellular storage deposition ranging from neurological, cutaneous and renal symptoms to cardiac and gastrointestinal ones. We are reporting about the case of a young female carrier of alpha-galactosidase A (agalA) gene mutation who was treated at our out-clinic practice for minimal neurological involvement (achroparaestesia). She was subsequently admitted in order to undergo appendectomy because of an acute severe abdominal pain. The histological examination of her appendix revealed only a deposition of globotriaosylceramide (Gb3) without any sign of acute inflammation. This case confirms the extreme clinical variability of Fabry disease and how the gastrointestinal involvement diagnosis can be missed