Introduction: Shwachman-Diamond syndrom (SDS) is a multi-system autosomal-recessive disorder usually characterized by an exocrine pancreatic insufficiency associated with a neutropenia and sometimes a metaphyseal dyschondroplasia. Nevertheless at any time a bone marrow failure with the threatening complications of myelodysplasia and / or acutisation may occur.
Methods: In this work we present three new cases with these complications, two of them had a bone marrow transplantation (BMT) with a post BMT good result. Data were included in the Chronic Neutropenia French Registry: clinical features of 6 transplanted children out of 43 SDS patients were reviewed to assess the place of BMT in SDS (which children, when and how ?).
Results: 1° G. . . was admitted because of a severe anemia at the age of 3 months (Hb 3,9 g /dl). He had moderate neutropenia and thrombopenia, a mild maldigestion. Meanwhile the diagnosis of SDS was easy because of family data. Despite blood transfusions and G-CSF therapy an allogenic matched BMT had to be done at the age of 13 months.
2° Two months before G. . .’s hospitalisation, his 21/2 years old brother E. . . was diagnosed as SDS, with chronic diarrhea, mal-digestion, neutropenia and dyschondroplasia. When he was 61/2 years old a severe aplastic anemia occured and he received several blood transfusions. Anemia recovered 6 months later. A likely toxic medullar effect of valproate acid therapy, given since one year for a syndromatic epilepsy, is discussed.
3° a one month baby EM. . . was admitted because of failure to thrive and one inguinal abcess. Check up revealed maldigestion, anemia and neutropenia. At the age of 4 months she had a mild pancytopenia. When she was 6 years old hematologic status worsened rapidly, G-CSF therapy was started but myelodysplasia onset led to an allogenic matched BMT.
Conclusion: These cases of SDS with hematologic complications point out three indications of BMT as they appeared to the review of the French Registry: leukaemia, myelodysplasia and severe medullar aplasia. Thirty nine per cent of the 43 french SDS patients presented a pancytopenia with various severity, BMT at the state of severe aplasia has the better prognosis, but the graft in SDS would carry a higher than average risk and require special wariness
Bourrigan L. Les complications graves de la maladie de Shwachman: place de la transplantation de moëlle osseuse. A propos d’une observation familiale. Thèse Strasbourg (France). Année 2001.