A case of MPS I-H/S with bilateral carpal tunnel syndrome was presented. The patient, a 27-year-old female visited our clinic, complaining of flexion contracture and numbness of fingers.
The clinical findings were short stature, coarse face, corneal clouding, flexion contracture of joints (hips, shoulders, elbows and fingers), hepatomegaly, umbilical hernia, carpal tunnel syndrome and no mental disturbance. These findings were the feature of MPS I-H/S.
In biochemical findings, marked mucopolysaccariduria was shown and dermatan sulfate was the major component of mucopolysaccarides excreted in urine. The activity of α-L-iduronidase in peripheral leukocytes of this patient was very low.
