Mucopolysaccharidoses: evaluation of the cranium by computed tomography and magnetic resonance]

Cranial CT and/or MRI examinations were performed in 8 patients affected with mucopolysaccharidosis. Two patients were affected with mucopolysaccharidosis IH,1 had mucopolysaccharidosis IS, 1 had mucopolysaccharidosis IV A and 4 presented mucopolysaccharidosis VI. CT and MRI showed white matter changes consisting of symmetric and diffuse hypodense areas on CT, large areas and multiple spots of prolonged T1 and T2 value on MRI. Reduced gray/white matter contrast was demonstrated on T2-weighted sequences. Furthermore, CT and MRI showed thickening of the dura mater at the cranio-cervical junction, which caused subarachnoid space narrowing in all patients. Spinal cord compression was detected in 4 patients. Additional findings were mild to severe hydrocephalus, skull dysplasia and odontoid dysplasia. Owing to the progressive clinical course of all mucopolysaccharidosis, the authors stress the importance of a careful study of the cranio-cervical junction in all the patients with mucopolysaccharidosis examined by CT or MRI in order to demonstrate essential thickening of the dura mater. In the patients with symptomatic cord compression, surgery should be considered.