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

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.

journal_name

Eur Radiol

journal_title

European radiology

authors

Arrigoni F,Romaniello R,Peruzzo D,Poretti A,Bassi MT,Pierpaoli C,Valente EM,Nuovo S,Boltshauser E,Huisman TAGM,Triulzi F,Borgatti R

doi

10.1007/s00330-018-5610-0

subject

Has Abstract

pub_date

2019-02-01 00:00:00

pages

770-782

issue

2

eissn

0938-7994

issn

1432-1084

pii

10.1007/s00330-018-5610-0

journal_volume

29

pub_type

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