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MR imaging of the brain in patients with mucopolysaccharidosis
R Murata1, S Nakajima, A Tanaka
1Department of Pediatrics, Osaka City University Medical School, Japan.
Abstract:
MR imaging of the brain was performed in eight patients with mucopolysaccharidosis (MPS). Two had MPS I S, one had MPS IIA, two had MPS IIB, two had MPS IIIB, and one had MPS VI. In the patients with MPS IIA and MPS VI, T1 and T2 were prolonged in various areas of the cerebral white matter. These findings seemed to correspond with the development of pathologic changes in MPS, such as perivascular pits in the white matter observed on slices of the fixed brain. In the patients with MPS IIA and MPS IIIB, the white matter did not show the proper signal intensity, which suggested that myelination was insufficient and that infiltration or deposition of glycosaminoglycan had occurred; this was consistent with the association of these two types with mental retardation. In the patients with MPS I S, no intracranial abnormalities were detected on MR images. MR imaging of the brain may be used to obtain a differential diagnosis of the various types of MPS, to estimate the extent of mental retardation, and to monitor the progress of this disease.
Insights
Brain MRI in mucopolysaccharidosis (MPS) reveals white matter abnormalities in specific subtypes, aiding diagnosis and monitoring. Findings correlate with pathology and mental retardation severity.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Mucopolysaccharidosis (MPS) encompasses a group of inherited metabolic disorders.
- These disorders are characterized by the accumulation of glycosaminoglycans (GAGs) in various tissues, including the brain.
- Neurological complications, particularly white matter changes and intellectual disability, are common in several MPS types.
Purpose of the Study:
- To investigate the utility of Magnetic Resonance (MR) imaging of the brain in diagnosing and characterizing different subtypes of mucopolysaccharidosis.
- To correlate MR imaging findings with the clinical presentation and pathological changes observed in MPS patients.
- To assess the potential of MR imaging in estimating the severity of mental retardation and monitoring disease progression.
Main Methods:
- Brain MR imaging was performed on eight patients diagnosed with various types of MPS (MPS I S, MPS IIA, MPS IIB, MPS IIIB, MPS VI).
- T1 and T2 relaxation times in the cerebral white matter were analyzed.
- Imaging findings were correlated with neuropathological observations from fixed brain slices where available.
Main Results:
- Prolonged T1 and T2 relaxation times in the cerebral white matter were observed in patients with MPS IIA and MPS VI, consistent with pathological changes like perivascular pits.
- In MPS IIA and MPS IIIB, abnormal white matter signal intensity suggested insufficient myelination and GAG deposition, correlating with intellectual disability.
- No intracranial abnormalities were detected on MR images in patients with MPS I S.
Conclusions:
- MR imaging of the brain can differentiate between various types of mucopolysaccharidosis.
- Brain MR imaging findings correlate with the degree of white matter pathology and the presence/severity of mental retardation in MPS.
- MR imaging serves as a valuable tool for the differential diagnosis, assessment of neurological involvement, and monitoring of mucopolysaccharidosis progression.