Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

Abstract

BackgroundVery little is known about the incidence and prevalence of hydrocephalus in patients with mucopolysaccharidoses (MPS). The biggest challenge is to distinguish communicating hydrocephalus from ventricular dilatation secondary to brain atrophy, because both conditions share common clinical and neuroradiological features. The main purpose of this study is to assess the relationship between ventriculomegaly, brain and cerebrospinal fluid (CSF) volumes, aqueductal and cervical CSF flows, and CSF opening pressure in MPS patients, and to provide potential biomarkers for abnormal CSF circulation.MethodsForty-three MPS patients (12 MPS I, 15 MPS II, 5 MPS III, 9 MPS IV A and 2 MPS VI) performed clinical and developmental tests, and T1, T2, FLAIR and phase-contrast magnetic resonance imaging (MRI) followed by a lumbar puncture with the CSF opening pressure assessment. For the analysis of MRI variables, we measured the brain and CSF volumes, white matter (WM) lesion load, Evans’ index, third ventricle width, callosal angle, dilated perivascular spaces (PVS), craniocervical junction stenosis, aqueductal and cervical CSF stroke volumes, and CSF glycosaminoglycans concentration.ResultsAll the scores used to assess the supratentorial ventricles enlargement and the ventricular CSF volume presented a moderate correlation with the aqueductal CSF stroke volume (ACSV). The CSF opening pressure did not correlate either with the three measures of ventriculomegaly, or the ventricular CSF volume, or with the ACSV. Dilated PVS showed a significant association with the ventriculomegaly, ventricular CSF volume and elevated ACSV.ConclusionsIn MPS patients ventriculomegaly is associated with a severe phenotype, increased cognitive decline, WM lesion severity and enlarged PVS. The authors have shown that there are associations between CSF flow measurements and measurements related to CSF volumetrics. There was also an association of volumetric measurements with the degree of dilated PVS.

Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients

“…We sought to determine whether we could detect alterations in a marker of neuronal degeneration neurofilament light chain (Nf-L), in this nMPS II patient population. As mentioned above, there is significant neurodegeneration in nMPS II patients, as observed via TUNEL staining of post-mortem brain tissue or MRI methods in living patients [ 17 , 18 , 19 ]. However, no fluid-based biomarker for monitoring neurodegeneration in nMPS II patients has been reported.…”

“…While MRI imaging studies and post-mortem analysis of brain tissue show clear neurodegeneration in nMPS II [ 17 , 18 , 19 ], there are currently no reports of markers of neurodegeneration in biofluids from nMPS II patients. Neurofilament light chain (Nf-L), a structural protein of the neuronal cytoskeleton, is a reliable biomarker of axonal injury and neurodegeneration.…”

Clinical magnetic resonance imaging evaluation of glymphatic function

“…[118][119][120][121][122] In fact, NPH patients show significantly elevated PSV, peak mean velocity, and stroke volume values. 118 On the other hand, using PC-MRI and measurements of CSF volumetrics (mucopolysaccharidoses [MPS]), 123 it has been demonstrated that individuals with MPS exhibit connections between CSF flow measures. When a ventricular shunt is suspected of malfunctioning, CSF flow assessed by PC-MRI within the parenchymal section may accurately reveal the shunt's functional condition.…”

Is cerebral spinal fluid flow associated with body mass index and head circumference in healthy children? A phase contrast magnetic resonance imaging study

“…More recent studies are showing the CSF current changes made by PC-MRI in diseases such as idiopathic intracranial hypertension, neuro-Behçet disease, amyotrophic lateral sclerosis, and mucopolysaccharidoses [6][7][8][9]. In the relevant literature, the link between CSF pressure and body mass index (BMI) was examined; however, no studies were published on the relationship between CSF flow dynamics, BMI, and head circumference (HC) [10].…”