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


Arrigoni, Filippo; Romaniello, Romina; Peruzzo, Denis; Poretti, Andrea; Bassi, Maria Teresa; Pierpaoli, Carlo; Valente, Enza Maria; Nuovo, Sara; Boltshauser, Eugen; Huisman, Thierry André Gerard Marie; Triulzi, Fabio; Borgatti, Renato (2019). The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis. European Radiology, 29(2):770-782.

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.

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:February 2019
Deposited On:05 Feb 2019 20:53
Last Modified:17 Sep 2019 19:55
Publisher:Springer
ISSN:0938-7994
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/s00330-018-5610-0
PubMed ID:30066250

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