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.

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis / Arrigoni, F.; Romaniello, R.; Peruzzo, D.; Poretti, A.; Bassi, M. T.; Pierpaoli, C.; Valente, E. M.; Nuovo, S.; Boltshauser, E.; Huisman, T. A. G. M.; Triulzi, F.; Borgatti, R.. - In: EUROPEAN RADIOLOGY. - ISSN 0938-7994. - 29:2(2019), pp. 770-782. [10.1007/s00330-018-5610-0]

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

Nuovo S.;
2019

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.
2019
Brain stem; Diffusion tensor imaging; Nervous system malformations; Neurological rehabilitation; Tubulin; Adult; Brain Stem; Cerebellum; Child; Diffusion Tensor Imaging; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Pons; Pyramidal Tracts; Tubulin; White Matter; Mutation
01 Pubblicazione su rivista::01a Articolo in rivista
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis / Arrigoni, F.; Romaniello, R.; Peruzzo, D.; Poretti, A.; Bassi, M. T.; Pierpaoli, C.; Valente, E. M.; Nuovo, S.; Boltshauser, E.; Huisman, T. A. G. M.; Triulzi, F.; Borgatti, R.. - In: EUROPEAN RADIOLOGY. - ISSN 0938-7994. - 29:2(2019), pp. 770-782. [10.1007/s00330-018-5610-0]
File allegati a questo prodotto
File Dimensione Formato  
Arrigoni_The spectrum of brainstem malformations_2019.pdf

solo gestori archivio

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Tutti i diritti riservati (All rights reserved)
Dimensione 4.22 MB
Formato Adobe PDF
4.22 MB Adobe PDF   Contatta l'autore

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1540260
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 17
  • ???jsp.display-item.citation.isi??? 16
social impact