Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.
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.
Srinivasan
Jayasri
J
Children's Neurosciences Centre, Melbourne, Victoria, Australia.
Coleman
Lee
L
Kornberg
Andrew J
AJ
D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000503:physiopathology*; D017668:Age of Onset; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000503:physiopathology*; D008297:Male