Corte Amauri Dalla, de Souza Carolina F M, Anés Maurício, Maeda Fabio K, Lokossou Armelle, Vedolin Leonardo M, Longo Maria Gabriela, Ferreira Monica M, Perrone Solanger G P, Balédent Olivier, Giugliani Roberto
Post-Graduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, RS, 90035-903, Brazil.
Fluids Barriers CNS. 2017 Sep 18;14(1):23. doi: 10.1186/s12987-017-0073-2.
Very 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.
Forty-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.
All 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.
In 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.
关于黏多糖贮积症（MPS）患者脑积水的发病率和患病率知之甚少。最大的挑战是区分交通性脑积水与继发于脑萎缩的脑室扩张，因为这两种情况具有共同的临床和神经放射学特征。本研究的主要目的是评估MPS患者脑室扩大、脑和脑脊液（CSF）体积、导水管和颈段脑脊液流量以及脑脊液开放压之间的关系，并为异常脑脊液循环提供潜在的生物标志物。
43例MPS患者（12例MPS I型、15例MPS II型、5例MPS III型、9例MPS IV A型和2例MPS VI型）进行了临床和发育测试，以及T1、T2、FLAIR和相位对比磁共振成像（MRI），随后进行腰椎穿刺并评估脑脊液开放压。为了分析MRI变量，我们测量了脑和脑脊液体积、白质（WM）病变负荷、埃文斯指数、第三脑室宽度、胼胝体角、扩张的血管周围间隙（PVS）、颅颈交界狭窄、导水管和颈段脑脊液搏出量以及脑脊液糖胺聚糖浓度。
所有用于评估幕上脑室扩大和脑室脑脊液体积的评分与导水管脑脊液搏出量（ACSV）均呈中度相关。脑脊液开放压与脑室扩大的三项测量指标、脑室脑脊液体积或ACSV均无相关性。扩张的PVS与脑室扩大、脑室脑脊液体积增加和ACSV升高显著相关。
在MPS患者中，脑室扩大与严重的表型、认知功能下降增加、WM病变严重程度和PVS扩大有关。作者表明，脑脊液流量测量与脑脊液容量测量相关指标之间存在关联。体积测量也与PVS扩张程度有关。
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