Metachromatic leukodystrophy: a scoring system for brain MR imaging observations
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Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. / Eichler, F; Grodd, W; Grant, E; Sessa, M; Biffi, A; Bley, A; Kohlschütter, Alfried; Loes, D J; Kraegeloh-Mann, I.
in: AM J NEURORADIOL, Jahrgang 30, Nr. 10, 10, 11.2009, S. 1893-1897.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Metachromatic leukodystrophy: a scoring system for brain MR imaging observations
AU - Eichler, F
AU - Grodd, W
AU - Grant, E
AU - Sessa, M
AU - Biffi, A
AU - Bley, A
AU - Kohlschütter, Alfried
AU - Loes, D J
AU - Kraegeloh-Mann, I
PY - 2009/11
Y1 - 2009/11
N2 - BACKGROUND AND PURPOSE: Metachromatic leukodystrophy (MLD) is a devastating demyelinating disease for which novel therapies are being tested. We hypothesized that MR imaging of brain lesion involvement in MLD could be quantified along a scale. MATERIALS AND METHODS: Thirty-four brain MR images in 28 patients with proved biochemical and genetic defects for MLD were reviewed: 10 patients with late infantile, 16 patients with juvenile, and 2 patients with adult MLD. All MR images were reviewed by experienced neuroradiologists and neurologists (2 readers in Germany, 2 readers in the United States) for global disease burden, as seen on the T2 and fluid-attenuated inversion recovery images. A visual scoring method was based on a point system (range, 0-34) derived from the location of white matter involvement and the presence of global atrophy, analogous to the scoring system developed for adrenoleukodystrophy. The readers were blinded to the neurologic findings. RESULTS: Thirty-three of 34 MR images showed confluent T2 hyperintensities of white matter. The inter-rater reliability coefficient was 0.988. Scores between readers were within 2 points of each other. Serial MR imaging studies in 6 patients showed significant progressive disease in 3 patients (initial score average, 4; mean follow-up, 24.3) and no change or 1 point progression in 3 patients (initial score average, 12; mean follow-up, 12.66). Projection fibers and the cerebellum tended to be involved only in advanced stages of disease. CONCLUSIONS: The MLD MR severity scoring method can be used to provide a measure of brain MR imaging involvement in MLD patients.
AB - BACKGROUND AND PURPOSE: Metachromatic leukodystrophy (MLD) is a devastating demyelinating disease for which novel therapies are being tested. We hypothesized that MR imaging of brain lesion involvement in MLD could be quantified along a scale. MATERIALS AND METHODS: Thirty-four brain MR images in 28 patients with proved biochemical and genetic defects for MLD were reviewed: 10 patients with late infantile, 16 patients with juvenile, and 2 patients with adult MLD. All MR images were reviewed by experienced neuroradiologists and neurologists (2 readers in Germany, 2 readers in the United States) for global disease burden, as seen on the T2 and fluid-attenuated inversion recovery images. A visual scoring method was based on a point system (range, 0-34) derived from the location of white matter involvement and the presence of global atrophy, analogous to the scoring system developed for adrenoleukodystrophy. The readers were blinded to the neurologic findings. RESULTS: Thirty-three of 34 MR images showed confluent T2 hyperintensities of white matter. The inter-rater reliability coefficient was 0.988. Scores between readers were within 2 points of each other. Serial MR imaging studies in 6 patients showed significant progressive disease in 3 patients (initial score average, 4; mean follow-up, 24.3) and no change or 1 point progression in 3 patients (initial score average, 12; mean follow-up, 12.66). Projection fibers and the cerebellum tended to be involved only in advanced stages of disease. CONCLUSIONS: The MLD MR severity scoring method can be used to provide a measure of brain MR imaging involvement in MLD patients.
KW - Adult
KW - Humans
KW - Adolescent
KW - Young Adult
KW - Severity of Illness Index
KW - Child
KW - Reproducibility of Results
KW - Child, Preschool
KW - Magnetic Resonance Imaging methods
KW - Brain pathology
KW - Cerebellum pathology
KW - Cerebral Cortex pathology
KW - Corpus Callosum pathology
KW - Leukodystrophy, Metachromatic pathology
KW - Observer Variation
KW - Adult
KW - Humans
KW - Adolescent
KW - Young Adult
KW - Severity of Illness Index
KW - Child
KW - Reproducibility of Results
KW - Child, Preschool
KW - Magnetic Resonance Imaging methods
KW - Brain pathology
KW - Cerebellum pathology
KW - Cerebral Cortex pathology
KW - Corpus Callosum pathology
KW - Leukodystrophy, Metachromatic pathology
KW - Observer Variation
U2 - 10.3174/ajnr.A1739
DO - 10.3174/ajnr.A1739
M3 - SCORING: Journal article
C2 - 19797797
VL - 30
SP - 1893
EP - 1897
JO - AM J NEURORADIOL
JF - AM J NEURORADIOL
SN - 0195-6108
IS - 10
M1 - 10
ER -
