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31.07.2018 | Neuro

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

verfasst von: Filippo Arrigoni, Romina Romaniello, Denis Peruzzo, Andrea Poretti, Maria Teresa Bassi, Carlo Pierpaoli, Enza Maria Valente, Sara Nuovo, Eugen Boltshauser, Thierry André Gerard Marie Huisman, Fabio Triulzi, Renato Borgatti

Erschienen in: European Radiology | Ausgabe 2/2019

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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.

Key Points

• Brainstem malformations affect 93% patients with mutated tubulin genes

• MRI shows homolateral and crossed brainstem asymmetries, clefts and pons hypoplasia

• DTI demonstrates irregular representation of transverse pontine fibres and fusion of corticospinal tracts

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Titel: The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis
verfasst von: Filippo Arrigoni
Romina Romaniello
Denis Peruzzo
Andrea Poretti
Maria Teresa Bassi
Carlo Pierpaoli
Enza Maria Valente
Sara Nuovo
Eugen Boltshauser
Thierry André Gerard Marie Huisman
Fabio Triulzi
Renato Borgatti
Publikationsdatum: 31.07.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: European Radiology / Ausgabe 2/2019
Print ISSN: 0938-7994
Elektronische ISSN: 1432-1084
DOI: https://doi.org/10.1007/s00330-018-5610-0

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

Abstract

Objectives

Methods

Results

Conclusions

Key Points

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Abstract

Objectives

Methods

Results

Conclusions

Key Points

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