CLINICAL VARIABILITY IN SCHWACHMAN DISEASE

Key words: Schwachman syndrome, Italian register, Clinical features

56 cases of Schwachman syndrome have been enrolled in the Italian register in order to better define the clinical spectrum. Almost all presented the hallmark of pancreatic insufficiency and hematologic cytopenia. 78% tipical and 41% atypical osseous impairement, 73% hepatic dysfunction (mostly non persistent), 50% short stature, 45% severe infections, 20% neurological or intellectual impairement, 12% renal disfunctions and 5% endocrine problems.