TY - JOUR
T1 - The spectrum of brainstem malformations associated to mutations of the tubulin genes family
T2 - MRI and DTI analysis
AU - Arrigoni, Filippo
AU - Romaniello, Romina
AU - Peruzzo, Denis
AU - Poretti, Andrea
AU - Bassi, Maria Teresa
AU - Pierpaoli, Carlo
AU - Valente, Enza Maria
AU - Nuovo, Sara
AU - Boltshauser, Eugen
AU - Huisman, Thierry André Gerard Marie
AU - Triulzi, Fabio
AU - Borgatti, Renato
N1 - Funding Information:
Funding This study has received funding by the European Research Council (ERC Starting Grant 260888), the Pierfranco and Luisa Mariani Foundation (PADAPORT project) and the Italian Ministry of Health (Ricerca Corrente 2015-2016, Ricerca Finalizzata 2013 NET-2013-02356160, 5X MILLE fundings).
Publisher Copyright:
© 2018, European Society of Radiology.
PY - 2019/2/1
Y1 - 2019/2/1
N2 - 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.
AB - 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.
KW - Brain stem
KW - Diffusion tensor imaging
KW - Nervous system malformations
KW - Neurological rehabilitation
KW - Tubulin
UR - http://www.scopus.com/inward/record.url?scp=85052084606&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85052084606&partnerID=8YFLogxK
U2 - 10.1007/s00330-018-5610-0
DO - 10.1007/s00330-018-5610-0
M3 - Article
C2 - 30066250
AN - SCOPUS:85052084606
SN - 0938-7994
VL - 29
SP - 770
EP - 782
JO - European radiology
JF - European radiology
IS - 2
ER -