The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis

Santo Di Nuovo, Renato Borgatti, Filippo Arrigoni, Romina Romaniello, Denis Peruzzo, Andrea Poretti, Maria Teresa Bassi, Carlo Pierpaoli, Sara Nuovo, Eugen Boltshauser, Thierry André Gerard Marie Huisman, Fabio Triulzi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

11 Citazioni (Scopus)

Abstract

Objectives To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). Methods Fifteen patients (six males; median age, 1.25 years; range, 1 month to 31 years) with mutations in the tubulin genes (TUBA1A = 8, TUBB2B = 4, TUBB3 = 3) studied with MRI and DTI were included in the study. Brain MR exams were reviewed to describe the malformative aspects of the brainstem. Malformations of the supratentorial brain and cerebellum were also recorded. Tractography was performed in seven selected cases. Results Fourteen patients (93%) showed complex malformations of the brainstem. Most common findings, apparent on anatomical MR sequences, were brainstem asymmetry (12 cases, 5 of which with a crossed pattern characterised by a hypertrophic right medulla oblongata and hypertrophic left pons), short and small pons on midline (10 cases) and anterior brainstem clefting (6 cases). DTI revealed abnormal transverse pontine fibres (13 cases), fusion of corticospinal tracts and medial lemnisci (9 cases) and a small decussation of the superior cerebellar peduncles (7 cases). Conclusions Conventional/anatomical MRI and DTI reveal a complex pattern of brainstem malformations associated with tubulin genes mutations.
Lingua originaleEnglish
pagine (da-a)770-782
Numero di pagine13
RivistaEuropean Radiology
Volume29
DOI
Stato di pubblicazionePubblicato - 2019
Pubblicato esternamente

Keywords

  • brainstem malformations

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