Late onset globoid cell leukodystrophy.

[Globoid cell leukodystrophy].

A 29 year old male with onset of globoid cell leukodystrophy at age 14 is described. This is the first case of enzymatically confirmed globoid cell leukodystrophy with onset of symptoms after the age of ten. This patient is unique because of the late onset and slow progression and extends the clinical spectrum of globoid cell leukodystrophy. Globoid cell leukodystrophy is caused by the deficien...

Globoid cell leukodystrophy: distinguishing early-onset from late-onset disease using a brain MR imaging scoring method.

BACKGROUND AND PURPOSE Our purpose was to determine the characteristic MR features of early-onset (before age 2 years) versus late-onset (after age 2 years) globoid cell leukodystrophy (GLD). METHODS Thirty-four brain MR images in 22 patients with GLD were reviewed. A severity score (0 to 32), based on a point system derived from the location and extent of disease and the presence of focal an...

globoid cell leukodystrophy (krabbe disease)

how to cite this article: tavasoli a. globoid cell leukodystrophy (krabbe disease). iran j child neurol. autumn 2014;8;4(suppl.1):14-15. pls see pdf.

Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.

BACKGROUND Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive central nervous system deterioration. We investigated whether allogeneic hematopoietic stem-cell transplantation can provide a source of leukocyte galactocerebrosidase and thereby prevent the decline of central nervous system function in patients with the disease. METHODS Fiv...

Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset.