CASE 47
A 36-year-old male comes into the physician’s office because his hands and
feet are “swelling,” and his face has coarse features with oily skin. On exami-
nation, he is above the 95th percentile for height at his age. He is noted to have
some coarse facial features including large nose, large tongue, and frontal
bossing of his forehead. His hands are enlarged with soft tissue swelling, and
his heel pad is thickened. He is noticed to have a slightly enlarged liver and
spleen. The remainder of the examination was otherwise normal.
What is the most likely diagnosis?
What is the biochemical mechanism of this disorder?
previous page 437 Case Files   Biochemistry read online next page 439 Case Files   Biochemistry read online Home Toggle text on/off