Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up.

Title

Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up.

Creator

Arvidsson J; Hagberg B; Mansson JE; Svennerholm L

Publisher

Acta Paediatrica

Date

1995

Subject

Humans; Male; Adult; Follow-Up Studies; Longitudinal Studies; Sweden; Tomography; Age of Onset; X-Ray Computed; Leukodystrophy; Vision Disorders/etiology; Epilepsy/etiology; Galactosylceramidase/blood; Globoid Cell/complications/enzymology/radiography; Musculoskeletal Equilibrium

Description

We describe a male patient with late onset globoid cell leukodystrophy (GLD) (Krabbe's disease) still alive at 24 years of age, with a well preserved intellectual and communicative capacity, in contrast to visual failure and severe central pyramidal and extrapyramidal motor disability with spasticity, dystonia, ataxia and peripheral neuropathy. Visual dysfunction began at 4 years of age, limping and balance problems at 8 years and epilepsy at 14 years of age. Neuroimaging at 15 years of age revealed white matter lesions, and nerve conduction velocity examinations showed a slowly developing polyneuropathy. Galactosylceramidase activity was reduced in leukocytes to 0.07 mu kat/kg protein compared with 0.02 (SD 0.01) mu kat/kg protein in infantile GLD.
1995

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

218-221

Issue

2

Volume

84

Citation

Arvidsson J; Hagberg B; Mansson JE; Svennerholm L, “Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up.,” Pediatric Palliative Care Library, accessed September 21, 2021, https://pedpalascnetlibrary.omeka.net/items/show/11919.

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