Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses

• Published in: Magnetic resonance imaging Vol. 5; no. 5; pp. 317 - 323
• Main Authors: Kulkarni, M.V, Williams, J.C, Yeakley, J.W, Andrews, J.L, McArdle, C.B, Narayana, P.A, Howell, R.R, Jonas, A.J
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 1987; Elsevier Science
• Subjects: Adolescent; Adult; Biological and medical sciences; Brain Diseases - diagnosis; Brain Diseases - etiology; Cervical Vertebrae - pathology; Child; Child, Preschool; Errors of metabolism; Humans; Hydrocephalus - diagnosis; Hydrocephalus - etiology; Infant; Lipids (lysosomal enzyme disorders, storage diseases); Magnetic Resonance Imaging; Medical sciences; Metabolic diseases; Mucopolysaccharidoses - complications; Spinal Cord Compression - diagnosis; Spinal Cord Compression - etiology; Spinal Stenosis - diagnosis; Spinal Stenosis - etiology; Human; Brain; Nervous system diseases; Spine; Skull; Medical imagery; Metabolic diseases; Mucopolysaccharidosis; Diagnosis; Nuclear magnetic resonance imaging; Genetic disease
• ISSN: 0730-725X; 1873-5894
• DOI: 10.1016/0730-725X(87)90120-2

Sixteen magnetic resonance (MR) studies were performed in eight patients with mucopolysaccharidosis (MPS). In patients with Hunter, Hurler, and Scheie syndromes, multiple areas of increased signal intensity were noted in the periventricular white matter. Computerized tomography (CT) frequently failed to demonstrate these white matter lesions. Other findings included spinal cord compression, hydrocephalus and airway obstruction due to soft tissue thickening around pharynx. In patients with Morquio syndrome, cervical spine dislocation, spinal cord compression and hydrocephalus were diagnosed by MR. MR was superior compared to CT, plain films and plain tomography, as the narrowing caused by bone and soft tissue changes were better seen with MR. Our experience suggests that MR should be the primary imaging modality for the detection of cranial abnormalities in patients with MPS. High resolution surface coil imaging may be preferable to invasive procedures such as myelography and CT with intrathecal contrast agents for the evaluation of cervical spine disease.