TY - JOUR
T1 - The spectrum of brainstem malformations associated to mutations of the tubulin genes family: 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 - Di Nuovo, Santo
AU - Boltshauser, Eugen
AU - Huisman, Thierry André Gerard Marie
AU - Triulzi, Fabio
AU - Borgatti, Renato
PY - 2019
Y1 - 2019
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.
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.
KW - brainstem malformations
KW - brainstem malformations
UR - http://hdl.handle.net/10807/134403
UR - https://www.scopus.com/inward/record.uri?eid=2-s2.0-85052084606&doi=10.1007%2fs00330-018-5610-0&partnerid=40&md5=27683ae54462181f14480e0ce62a288f
U2 - 10.1007/s00330-018-5610-0
DO - 10.1007/s00330-018-5610-0
M3 - Article
SN - 1432-1084
VL - 29
SP - 770
EP - 782
JO - European Radiology
JF - European Radiology
ER -