FREQUENT MYOCARDIAL LESIONS IN SHWACHMANS SYNDROME - 8 FATAL CASES AMONG 16 FINNISH PATIENTS

A total of 16 children with Shwachman''s syndrome were studied over a period of 17 yr. Eight cases were detected in autopsy at 6-15 mo.; all had died of cardiac failure due to myocardial lesions. The left ventricles showed necrosis of myofibers in large areas and the pancreas was atrophic and replaced by adipose tissue. The other 8 patients included 2 siblings of deceased cases. Only 1 of these showed transient cardiac failure and no significant nutritional deficiencies were found. They had steatorrhea due to failure of the exocrine pancreas and either constant (6 cases) or cyclic (2 cases) neutropenia. The steatorrhea improved with age. Pyogenic infections, mainly otitis media were frequent during the first 3 yr of life. Measurements of humoral and cell-mediated immunity were normal, but in addition to low numbers of neutrophils, the neutrophilic chemotaxis was depressed in all 7 patients tested. Skin lesions, hepatic inflammation and growth tended to improve with age. The family data of the patients is consistent with an autosomal recessive trait inheritance.