Abstract
BackgroundMucopolysaccharidoses (MPS) is a group of hereditary multisystemic lysosomal disorders. Most neuroimaging studies in MPS have focused on the supratentorial compartment and craniocervical junction abnormalities, and data regarding posterior fossa findings are scarce in the literature. Thus, our purpose is to describe posterior fossa findings on magnetic resonance imaging (MRI) of MPS patients.MethodsWe reviewed routine MRI scans of MPS patients being followed up at our institution (types I, II, III, IV, and VI), focusing on posterior fossa structures.ResultsForty‐seven MPS patients were included. MRI‐visible perivascular spaces were commonly found in the midbrain and adjacent to the dentate nuclei (85% and 55% of patients, respectively). White‐matter lesion was not identified in most cases. Its most frequent localizations were in the pons and cerebellum (34% and 30% of patients, respectively). Enlargement of cerebrospinal fluid (CSF) spaces in the posterior fossa was present in 55% of individuals and was more frequent in neuronopathic patients (73% vs 40%; P = .02). Cerebellar volume was classified as normal, apparent macrocerebellum, atrophic, and hypoplastic in 38%, 38%, 21%, and 3% of patients, respectively. A depression of the posterior fossa floor in the midline sagittal plane was found in 22 patients (47%), which was statistical significantly associated with enlargement of CSF spaces (P = .02) and with apparent macrocerebellum (P = .03).ConclusionThe present study compiled the main posterior fossa findings in MPS patients. Classically described in the supratentorial compartment, MRI‐visible perivascular spaces, white matter lesions, and enlarged perivascular spaces were also found in the posterior fossa. However, atrophy, which commonly affects cerebral hemispheres, was not the most frequent cerebellar morphology found in our study. Moreover, potential findings for future research were described.
Highlights
Mucopolysaccharidoses (MPS) is a group of hereditary multisystemic lysosomal disorders
Inverted J-shaped posterior fossa was statistical significantly associated with enlargement of cerebrospinal fluid (CSF) spaces (P = .02) and with the presence of apparent macrocerebellum (P = .03)
We found that magnetic resonance imaging (MRI)-visible perivascular spaces and white matter lesions occur in the posterior fossa
Summary
Mucopolysaccharidoses (MPS) is a group of hereditary multisystemic lysosomal disorders. Magnetic resonance imaging (MRI) is the modality of choice for neuraxial evaluation in MPS, as in other hereditary metabolic diseases.[4] White matter lesions, cortical atrophy, hydrocephalus, enlarged perivascular spaces, and stenosis of the craniocervical junction are the main imaging findings described in this population These abnormalities occur in different combinations and severities, even in individuals with the same MPS type.[5,6,7] Most neuroimaging studies in MPS have focused on the supratentorial compartment and craniocervical junction.[4,8,9,10,11] Studies describing posterior fossa findings in these patients are scarce. Abnormal cerebellar volume (hypoplasia and macrocerebellum), mega cisterna magna, arachnoid cyst, and Chiari I malformation are other reported findings.[12,13,14,15]
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