| Popis: |
A second infant with trypsinogen deficiency disease is described. The infant presented with severe hypoproteinemia, edema, anemia, and growth failure, and subsequently developed dyspigmentation of the hair. The clinical abnormalities and their dramatic response to protein hydrolysate diet are strikingly similar to those of the first patient described. The finding of a second case unrelated to the first in a single community suggests that trypsinogen deficiency disease is probably not a rare disease. Since it is a treatable disorder, it is important to consider it in the differential diagnosis of any infant with hypoproteinemia, edema, and failure to thrive. |
