Gaucher's disease is a rare metabolic disorder characterized by the lack of beta-glucocerebrosidase enzyme. In this case report a 26-year-old male patient was, first diagnosed as having splenomegaly and a huge haemangioma, therefore managed by total splenectomy. Histologic examination and specific colouring techniques using PAS and Black Sudan dyes allowed the diagnosis of Gaucher's disease. Preoperative diagnosis is hence fundamental to establish the correct management procedure, which currently may be surgical or medical and/or combined. In fact, following the diagnosis the second step includes the decision-making about splenectomy. Other therapeutic approaches are enzyme replacement therapy and genic therapy. The first may be combined to partial splenectomy, while the latter still needs further evaluations.
[Indications for splenectomy in Gaucher's disease. Case report] / P., Ferrazza; Assenza, Marco; F. D., Camassei; Lombardi, Augusto; M. D., Paola. - In: IL GIORNALE DI CHIRURGIA. - ISSN 0391-9005. - 18:4(1997), pp. 209-211.
[Indications for splenectomy in Gaucher's disease. Case report].
ASSENZA, Marco;LOMBARDI, Augusto;
1997
Abstract
Gaucher's disease is a rare metabolic disorder characterized by the lack of beta-glucocerebrosidase enzyme. In this case report a 26-year-old male patient was, first diagnosed as having splenomegaly and a huge haemangioma, therefore managed by total splenectomy. Histologic examination and specific colouring techniques using PAS and Black Sudan dyes allowed the diagnosis of Gaucher's disease. Preoperative diagnosis is hence fundamental to establish the correct management procedure, which currently may be surgical or medical and/or combined. In fact, following the diagnosis the second step includes the decision-making about splenectomy. Other therapeutic approaches are enzyme replacement therapy and genic therapy. The first may be combined to partial splenectomy, while the latter still needs further evaluations.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.