MAGNETIC-RESONANCE-IMAGING OF THE BRAIN, NECK AND CERVICAL-SPINE IN MILD HUNTERS-SYNDROME (MUCOPOLYSACCHARIDOSES TYPE-II)

Magnetic resonance imaging (MRI) of the brain, neck and cervical spine of five patients with the mild variant of Hunter's syndrome (iduronat e sulphate sulphatase deficiency, mucopolysaccharidosis Type II, MPS I I) are described and compared with the few available reports in the li terature. The most prominent abnormalities in the brain include ventri culomegaly and brain atrophy, the presence of well defined cystic area s of decreased signal on T1- and increased signal on T2-weighted image s, of the thalamus, basal ganglia and brain stem, and decreased signal on T1-weighted and increased signal changes on T2-weighted sections o f the periventricular and subcortical white matter. A giant cisterna m agna was present in four patients and a J-shaped sella in three. Thick ening of the soft tissue posterior to the odontoid peg was present wit h associated canal stenosis in all cases resulting in compression of t he cervical cord in four cases. All patients had ill-defined decreased signal on T1-weighted and increased signal changes on T2-weighted sec tions within the cord. In some, this was associated with cord expansio n. Airway narrowing was a common finding. Disc dehydration and the cla ssical platyspondyly with antero-inferior beaking of the vertebral bod ies was seen.