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Juvenile onset globoid cell leukodystrophy masquerading as XL‐adrenoleukodystrophy
Author(s) -
Srinivasan Jayasri,
Coleman Lee,
Kornberg Andrew J.
Publication year - 2008
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.2008.01340.x
Subject(s) - adrenoleukodystrophy , leukodystrophy , medicine , krabbe disease , presentation (obstetrics) , pathology , age of onset , magnetic resonance imaging , disease , pediatrics , radiology , peroxisome , receptor
Krabbe's disease, or globoid cell leukodystrophy (GLD), is an autosomal recessive condition where the commonest presentation is the rapid neurological deterioration typical of the early onset subtype. Later onset subtypes, with more protean presentations and outcomes, also exist. These must be distinguished from other types of leukodystrophies, such as Adrenoleukodystrophy, as the prognosis is extremely variable. We describe a patient with late onset GLD (LOGLD) with imaging findings consistent with a diagnosis of Adrenoleukodystrophy. The importance of interpreting imaging findings in conjunction with the clinical and biochemical information is highlighted.