Shwachman's syndrome: A review of 21 cases

Abstract

Twenty-one patients (10 male, 11 female) aged between 11 mth and 29 yr with Shwachman's syndrome are reviewed. Al patients had exocrine pancreatic insufficiency. Hematological features included neutropenia in 19 (95%), anemia in 10 (50%), and thrombocytopenia in 14 (70%); 1 patient developed erythroleukemia. Severe infections occurred in 17 (85%) from which 3 (15%) died. Only 1 child exceeded the 3rd centile for height, and growth retardation was particularly evident in the older patients. All had skeletal abnormalities or delayed skeletal maturation, or both. Metaphyseal dyschondroplasia affected 13 of the older patients and was associated with skeletal deformities. Eight of 9 children under 2 1/2 yr had rib abnormalities. Respiratory function test in children under 2 yr demonstrated reduced thoracic gas volume and chest wall compliance. Older patients had reduced forced expiratory volume and forced vital capacity. Neurological assessment showed developmental retardation or reduced IQ assessments, or both, in 85% of patients studied. Other neurological abnormalities included hypotonia, deafness, and retinitis pigmentosa. Neonatal problems had been present in 16 (80%) of the patients and 5 were of low birthweights. Hepatomegaly with biochemical evidence of liver involvement occurred in the younger patients and resolved with age. Other associated features included dental abnormalities, renal dysfunction, an ichthyotic maculopapular rash in 13 (65%), delayed puberty, diabetes mellitus, and various dysmorphic features. These findings stress the diverse manifestations of the syndrome and extend knowledge on a number of aspects. Sibship segregation ratios support an autosomal mode of inheritance and a hypothesis for the pathophysiological basis of this syndrome is advanced.