Diffusion tensor imaging detects abnormalities in the corticospinal tracts of neonates with infantile Krabbe disease.
OBJECTIVE
It is not possible to determine if neonates diagnosed with Krabbe disease through statewide neonate screening programs will develop the disease as infants, juveniles, or adults. The only available treatment for this fatal neurodegenerative condition is unrelated umbilical cord transplantation, but this treatment is only effective before clinical symptoms appear. Therefore, a marker of disease progression is needed. The purpose of this study was to evaluate the use of diffusion tensor imaging (DTI) with fiber tracking in identifying early changes in major motor tracts of asymptomatic neonates with infantile Krabbe disease.


METHODS
Six neonates with infantile Krabbe disease identified because of family history underwent brain MR imaging within the first 4 weeks of life. Six-direction DTI and quantitative tractography of the corticospinal tracts were performed. Hypothesis tests, 1 for each hemisphere, were used to determine whether the fractional anisotropy (FA) ratio of the neonates with infantile Krabbe disease was significantly different from that of 45 age- and sex-matched controls.


RESULTS
The average FA ratio for patients with Krabbe disease was 0.89 and 0.87 for left and right tracts, respectively (P = .002 and < .001). After adjusting for gestational age, gestational age at birth, birth weight, sex, and race, the 6 patients with Krabbe disease had significantly lower FA values than the controls (P < .001).


CONCLUSIONS
DTI with quantitative tractography detected significant differences in the corticospinal tracts of asymptomatic neonates who had the early-onset form of Krabbe disease. Once standardized and validated, this tool has the potential to be used as a marker of disease progression in neonates diagnosed through statewide neonate screening programs.
Escolar
M L
ML
Program for Neurodevelopmental Function in Rare Disorders at the Center for the Study of Development and Learning, University of North Carolina at Chapel Hill, Chapel Hill, NC 27517, USA. maria.escolar@cdl.unc.edu
Poe
M D
MD
Smith
J K
JK
Gilmore
J H
JH
Kurtzberg
J
J
Lin
W
W
Styner
M
M
D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007965:Leukodystrophy, Globoid Cell / Q000473:pathology*; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D011712:Pyramidal Tracts / Q000473:pathology*; D013118:Spinal Cord Diseases / Q000473:pathology*