Mucopolysaccharidosis I-H (Hurler's Syndrome) and Human Temporal Bone Histopathology

Six temporal bones from three patients with mucopolysaccharidosis I-H are described. All three patients were diagnosed as having mucopolysaccharidosis I-H by enzyme analysis, and all fit the phenotypic criteria of this disease. Family histories of the three cases described were negative for mycopolysaccharide-storage diseases. All three of the patients suffered chronic recurrent otitis media from infancy through death. Common histopathologic findings include otitis media, residual mesenchyme in the round window niche, partial occlusion of the middle ear cavity, and basophilic concretions within the stria vascularis. The common severe histopathologic changes observed in this study and similar findings in the temporal bones described in other studies lead the authors to believe that ear involvement in this disease may be more common than was previously suspected.