Genetic Conditions

Abstract

Abstract Jennifer was a 13-year-old girl who puzzled her physician. Routine blood tests were normal, but she complained of feeling stiff all the time. She had frequent upper respiratory infections as a young child, and they continued as she got older. On exam, she was found to have limitation in her elbows without swelling. The pediatrician thought she might have juvenile arthritis (JA). The pediatrician had also noticed a heart murmur, and Jennifer was scheduled to be seen by a cardiologist, but she had gotten an appointment with me first. She was pleasant and normal in both appearance and intelligence. However, on complete examination, I noted that while she had slightly cloudy corneas, she had never complained to her family of visual difficulties. The heart murmur was evident, as was mild hepatosplenomegaly. X-rays of her arms revealed a curved radius with a tilted radial epiphysis, and the radiologist was uncertain what that meant. Putting the symptoms together, it was clear that Jennifer had Scheie syndrome, a milder variant of mucopolysac charidosis (MPS I) that was likely to cause progressive difficulties over time if not treated.