Serial magnetic resonance imaging studies in a case of late onset globoid cell leukodystrophy.
The late onset type of globoid cell leukodystrophy (GLD) is a rare disorder and only three magnetic resonance imaging (MR) studies have been reported for this disease. We report a sporadic case of late onset GLD. The illness started at the age of 3 years and 8 months with spastic gait. He became bedridden at the age of 4 years and 7 months. The diagnosis was made by deficient activity of galactosylceramidase in lymphocytes, and the biochemical and morphological examinations of the biopsied sural nerve were also conducted. Computed tomography (CT) and MR study revealed that the degenerative change of the white matter was initially recognized in the occipital and parietal lobes and then extended forward. Literature of the CT or MR findings of GLD is also reviewed.
Tada
K
K
Department of Pediatrics, Osaka University Medical School, Japan.
Taniike
M
M
Ono
J
J
Tsukamoto
H
H
Inui
K
K
Okada
S
S
D001706:Biopsy; D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005698:Galactosylceramidase / Q000172:deficiency; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009129:Muscle Tonus; D013497:Sural Nerve / Q000473:pathology; D014057:Tomography, X-Ray Computed
D005698:Galactosylceramidase