36 Hurler’s Syndrome

Hurler’s Syndrome

Brian Edward Reeves, Anthony G. Ryan, Peter L. Munk, and Thomas Pope

Clinical Presentation

A 1-year-old child developed coarse, thick, facial features, prominent dark eyebrows, cloudy corneas, progressive stiffness, gibbus deformity, and obvious mental retardation. The child had appeared normal at birth. Laboratory values showed increased urinary excretion of dermatan and heparan sulfates.

Figure 36A

Figure 36B

Figure 36C

Figure 36D

Figure 36E

Radiologic Findings

Hands

Figure 36A shows pointing of the proximal portions of the second through fifth metacarpals, widening of the proximal and middle phalanges, and a V-shaped deformity of the distal radius and ulna.

Skull

Figures 36B and 36C show macrocephaly, poorly developed mastoids, a prominent forehead, heavy supraorbital ridges, an elongated and J-shaped pituitary fossa, poorly developed paranasal sinuses, a large tongue, and a thick diploic space.