Schwachman Syndrome
Schwachman syndrome is the second most common cause of pancreatic insufficiency in the pediatric population. Features of the disorder include diarrhea, failure to thrive, bone marrow hypoplasia, neutropenia, and metaphyseal dysostosis. Anemia, thrombocytopenia, and increased fetal hemoglobin levels may also be present. Some children have intermittent galactosuria.
In a review of 21 cases of Schwachman syndrome, Aggett et al identified neonatal problems in 80% of affected children, although the usual onset of recognizable symptoms was between 2 and 12 months of age. Frequent malodorous stools, abdominal distention, and growth failure developed secondary to malabsorption and pancreatic insufficiency. Recurrent respiratory and skin infections occurred.
