Naslov
Neuroradiological brain phenotype in mucopolysaccharidosis type II patients from 5 European countries

Autori
Nestrasil, Igor ; Nguyen, Carol ; Vaneckova, Manuela ; Burgetova, Andrea ; Murgasova, Lenka ; Zeman, Jiri ; Ramadza, Danijela Petković ; Baric, Ivo ; Almassy, Zsuzsanna ; Jurickova, Katarina ; Bzduch, Vladimir ; Tylki-Szymanska, Anna ; Magner, Martin

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Skup
WORLD Symposium 2018, San Diego, USA

Mjesto i datum
San Diego (CA), Sjedinjene Američke Države, 05.02.2018. - 09.02.2018

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
MPS2, MRI, neuroradiological phenotype

Sažetak
Objective: To characterize the neuroradiological brain phenotype in severe and attenuated forms of mucopolysaccharidosis type II (MPSII). Methods: 43 clinical MRI scans from 24 males and 1 female with MPSII from 5 European countries were collected. Brain MRIs were analyzed using semi-quantitative MPS Brain MRI rating scale (MPSMRI) specifically developed for MPS population. The scale consists of three domains assessing white matter (WM) hyperintensities, enlarged perivascular spaces (PVS), and atrophy with ventricular enlargement. Results: The total of 26 scans from 19 males (15 severe, 4 attenuated) including longitudinal data sets of 4 subjects (follow-up 2-8 years) were analyzed. Severe form presented with higher atrophy (p&lt ; .0001), ventricular enlargement (VE) (p&lt ; .02), and lobar white matter hyperintensities (LWMH) (p=0.06) MPSMRI scores when compared to attenuated cases. There were associations between LWMH and VE scores (R=0.72, p&lt ; .001), LWMH and atrophy scores (R=0.70, p&lt ; .001) and VE and atrophy scores (R=0.73, p&lt ; .001). Longitudinal follow-up revealed a progressive increase in lobar and periventricular white matter hyperintensities, brain atrophy and ventriculomegaly scores, and minimal change in PVS scores. We identified the presence of delayed myelination in 42%, sella turcica enlargement in 81%, middle cranial fossae and posterior fossa CSF collection in 15% and 54% of all cases respectively. Conclusion: We show that white matter disease, enlarged ventricles or hydrocephalus, and brain atrophy are the main and interrelated hallmarks of MPS II, more highly expressed in severe than attenuated forms. All tend to progress overtime whereas the enlarged perivascular spaces show minimal or no progression. Our brain MRI findings propose endpoints suitable for disease registries to track disease outcomes and pinpoint brain abnormalities in MPSII that can serve as potential markers for clinical trials if assessed with a robust quantitative approach.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA