BACKGROUND: @entity66 is a rare @entity1112 . Despite frequent neurological involvement, characterizing the severe phenotype, neuroimaging studies are scarce. OBJECTIVES: To determine frequency and severity of @entity1646 -related features; to correlate them with clinical phenotype; to evaluate their natural evolution and the impact of intravenous enzymatic replacement therapy (ERT). METHODS: Sixty nine brain MRI examinations of 36 Italian @entity1 (mean-age 10.4 years; age-range 2.2-30.8; severe phenotype in 22 @entity1 ) were evaluated. Twenty @entity1 had multiple MRIs (median follow-up 3.1 years, range 1-16.9): among them 15 had MRIs before and after ERT, six had repeated MRIs without being on ERT and five while on ERT. Perivascular, subarachnoid and ventricle space enlargement, @entity62 ( @entity62 ) burden, @entity4611 , periodontoid thickening, @entity612 , @entity24179 , @entity602 , vertebral and intervertebral @entity854 were graded by means of dedicated scales. RESULTS: Perivascular spaces enlargement (89%), WMAs (97%), @entity510 (83%), IIIrd-ventricle dilatation (100%), @entity4611 (80%), cranial @entity4916 (19%), @entity91 (19%), enlarged cisterna magna (39%), @entity24179 (66%), periodontoid thickening (94%), @entity612 (46%), platyspondylia (84%) and @entity854 (79%) were frequently detected. WMAs, IIIrd-ventricle dilatation and @entity4916 correlated with the severe phenotype (p   <   0.05). Subarachnoid spaces and ventricle enlargement, @entity612 progressed despite ERT, while other MR features showed minimal or no changes. CONCLUSIONS: The spectrum of brain and spine MRI abnormalities in @entity66 is extremely wide and requires a thorough evaluation. WMAs, @entity194 /communicating @entity1276 and @entity612 progress over time and might represent possible disease severity markers for new treatment efficacy assessment.

Brain and spine MRI features of XXXX : frequency, natural evolution and response to therapy.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity4916 :: ('MESH:D015576', 'Disease') :: ['hyperostosis'] @entity66 :: ('MESH:D004194', 'Disease') :: ['Hunter disease'] @entity1276 :: ('MESH:D006849', 'Disease') :: ['hydrocephalus'] @entity612 :: ('MESH:D013130', 'Disease') :: ['spinal stenosis', 'WMAs and spinal stenosis'] @entity510 :: ('MESH:D013345', 'Disease') :: ['subarachnoid space enlargement'] @entity1112 :: ('MESH:D040181', 'Disease') :: ['X-linked mucopolysaccharidosis'] @entity602 :: ('MESH:D013118', 'Disease') :: ['myelopathy'] @entity24179 :: ('MESH:D003719', 'Disease') :: ['dens hypoplasia'] @entity4611 :: ('MESH:D010900', 'Disease') :: ['pituitary sella abnormalities', 'pituitary sella/skull/posterior fossa abnormalities'] @entity854 :: ('MESH:D018376', 'Disease') :: ['disc abnormalities'] @entity1646 :: ('MESH:D009083', 'Disease') :: ['neuroradiological mucopolysaccharidosis'] @entity194 :: ('MESH:D001284', 'Disease') :: ['atrophy'] @entity91 :: ('MESH:D003398', 'Disease') :: ['craniosynostosis'] @entity62 :: ('MESH:D056784', 'Disease') :: ['WMA', 'white matter abnormality']
@entity66 :: (MESH:D004194,Disease) :: ['Hunter disease']
