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.
Highlights
Very little is known about the incidence and prevalence of hydrocephalus in patients with mucopolysaccharidoses (MPS)
All the scores (Evans’ index, third ventricle width and callosal angle) used to assess the supratentorial ventricular enlargement in MPS patients presented a moderate correlation with the cerebrospinal fluid (CSF) aqueductal flow
The ventricular CSF volume correlated with the CSF aqueductal flow, which did not occur with the total CSF volume and the subarachnoid CSF volume (Table 1)
Summary
Very little is known about the incidence and prevalence of hydrocephalus in patients with mucopolysaccharidoses (MPS). Ventricular enlargement is known to occur in patients with MPS and may be due to the combination of cortical atrophy secondary to central nervous system degeneration, a defect in cerebrospinal fluid (CSF) reabsorption due to thickening of the meninges and dysfunction of the Pacchionian granulations in the arachnoid villi, and venous hypertension secondary to reduced venous outflow through bone dysostosis of the skull base [2, 3]. The communicating hydrocephalus that occurs in MPS is usually slowly progressive and difficult to distinguish from the primary neurologic disease. Acute symptoms such as vomiting and papilledema are uncommon. The degree to which hydrocephalus contributes to the neurologic deterioration in MPS is unknown [1]
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