Undecussated superior cerebellar peduncles and absence of the dorsal transverse pontine fibers: A new axonal guidance disorder?

Research output: Research - peer-reviewArticle

Abstract

Axonal guidance disorders are a newly recognized group of diseases of the human central nervous system. These disorders are characterized by white matter tracts with abnormal course and failure to cross the midline or presence of ectopic white matter tracts. Diffusion tensor imaging (DTI) and fiber tractography are suitable neuroimaging tools to detect morphological abnormalities in the course, decussation, and location of white matter tracts. We report on a 6.5-year-old child with significant global developmental delay. Axial color-coded fractional anisotropy (FA)-maps revealed absence of (1) the midline "focal red dot" at the level of the pontomesencephalic junction representing absence of decussation of the superior cerebellar peduncles and (2) the dorsal component of the transverse pontine fibers. These findings are highly suggestive of an axonal guidance disorders. The complete neuroimaging phenotype of this child does not match well-known diseases with similar DTI findings. We show how DTI reveals important information of microstructural brain malformations that may go undetected or remains underestimated and consequently DTI may suggest the possible pathomechanism. We conclude that this child may be suffering from a not yet described subtype of an axonal guidance disorder.

LanguageEnglish (US)
Pages536-540
Number of pages5
JournalCerebellum
Volume13
Issue number4
DOIs
StatePublished - 2014

Fingerprint

Diffusion Tensor Imaging
White Matter
Neuroimaging
Central Nervous System Diseases
Anisotropy
Color
Phenotype
Brain

Keywords

  • Axonal guidance disorder
  • Diffusion tensor imaging
  • Superior cerebellar peduncles
  • Transverse pontine fibers

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Medicine(all)

Cite this

@article{a01070695e5c406da145d80dc4b8d6c0,
title = "Undecussated superior cerebellar peduncles and absence of the dorsal transverse pontine fibers: A new axonal guidance disorder?",
abstract = "Axonal guidance disorders are a newly recognized group of diseases of the human central nervous system. These disorders are characterized by white matter tracts with abnormal course and failure to cross the midline or presence of ectopic white matter tracts. Diffusion tensor imaging (DTI) and fiber tractography are suitable neuroimaging tools to detect morphological abnormalities in the course, decussation, and location of white matter tracts. We report on a 6.5-year-old child with significant global developmental delay. Axial color-coded fractional anisotropy (FA)-maps revealed absence of (1) the midline {"}focal red dot{"} at the level of the pontomesencephalic junction representing absence of decussation of the superior cerebellar peduncles and (2) the dorsal component of the transverse pontine fibers. These findings are highly suggestive of an axonal guidance disorders. The complete neuroimaging phenotype of this child does not match well-known diseases with similar DTI findings. We show how DTI reveals important information of microstructural brain malformations that may go undetected or remains underestimated and consequently DTI may suggest the possible pathomechanism. We conclude that this child may be suffering from a not yet described subtype of an axonal guidance disorder.",
keywords = "Axonal guidance disorder, Diffusion tensor imaging, Superior cerebellar peduncles, Transverse pontine fibers",
author = "Kweldam, {Charlotte F.} and Hilary Gwynn and Alpa Vashist and Hoon, {Alexander H.} and Huisman, {Thierry A G M} and Andrea Poretti",
year = "2014",
doi = "10.1007/s12311-014-0562-7",
volume = "13",
pages = "536--540",
journal = "Cerebellum",
issn = "1473-4222",
publisher = "Springer New York",
number = "4",

}

TY - JOUR

T1 - Undecussated superior cerebellar peduncles and absence of the dorsal transverse pontine fibers

T2 - Cerebellum

AU - Kweldam,Charlotte F.

AU - Gwynn,Hilary

AU - Vashist,Alpa

AU - Hoon,Alexander H.

AU - Huisman,Thierry A G M

AU - Poretti,Andrea

PY - 2014

Y1 - 2014

N2 - Axonal guidance disorders are a newly recognized group of diseases of the human central nervous system. These disorders are characterized by white matter tracts with abnormal course and failure to cross the midline or presence of ectopic white matter tracts. Diffusion tensor imaging (DTI) and fiber tractography are suitable neuroimaging tools to detect morphological abnormalities in the course, decussation, and location of white matter tracts. We report on a 6.5-year-old child with significant global developmental delay. Axial color-coded fractional anisotropy (FA)-maps revealed absence of (1) the midline "focal red dot" at the level of the pontomesencephalic junction representing absence of decussation of the superior cerebellar peduncles and (2) the dorsal component of the transverse pontine fibers. These findings are highly suggestive of an axonal guidance disorders. The complete neuroimaging phenotype of this child does not match well-known diseases with similar DTI findings. We show how DTI reveals important information of microstructural brain malformations that may go undetected or remains underestimated and consequently DTI may suggest the possible pathomechanism. We conclude that this child may be suffering from a not yet described subtype of an axonal guidance disorder.

AB - Axonal guidance disorders are a newly recognized group of diseases of the human central nervous system. These disorders are characterized by white matter tracts with abnormal course and failure to cross the midline or presence of ectopic white matter tracts. Diffusion tensor imaging (DTI) and fiber tractography are suitable neuroimaging tools to detect morphological abnormalities in the course, decussation, and location of white matter tracts. We report on a 6.5-year-old child with significant global developmental delay. Axial color-coded fractional anisotropy (FA)-maps revealed absence of (1) the midline "focal red dot" at the level of the pontomesencephalic junction representing absence of decussation of the superior cerebellar peduncles and (2) the dorsal component of the transverse pontine fibers. These findings are highly suggestive of an axonal guidance disorders. The complete neuroimaging phenotype of this child does not match well-known diseases with similar DTI findings. We show how DTI reveals important information of microstructural brain malformations that may go undetected or remains underestimated and consequently DTI may suggest the possible pathomechanism. We conclude that this child may be suffering from a not yet described subtype of an axonal guidance disorder.

KW - Axonal guidance disorder

KW - Diffusion tensor imaging

KW - Superior cerebellar peduncles

KW - Transverse pontine fibers

UR - http://www.scopus.com/inward/record.url?scp=84904596590&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84904596590&partnerID=8YFLogxK

U2 - 10.1007/s12311-014-0562-7

DO - 10.1007/s12311-014-0562-7

M3 - Article

VL - 13

SP - 536

EP - 540

JO - Cerebellum

JF - Cerebellum

SN - 1473-4222

IS - 4

ER -