Abstract
Adult polyglucosan body disease (APBD) is a metabolic disorder usually caused by glycogen
branching enzyme (GBE) deficiency. APBD associates progressive walking difficulties,
bladder dysfunction and, in about 50% of the cases, cognitive decline. APBD is characterized
by a recognizable leukodystrophy on brain MRI. We report here a novel presentation
of this disease in a 35-year old woman who presented with an acute deterioration followed
by an unexpected recovery. Enzymatic analysis displayed decreased GBE activity in
leukocytes. Molecular analyses revealed that only one mutated allele was expressed,
bearing a p.Arg515His mutation. This is the first observation reporting acute and
reversible neurological symptoms in APBD. These findings emphasize the importance
of searching GBE deficiency in patients presenting with a leukodystrophy and acute
neurological symptoms mimicking a stroke, in the absence of cardiovascular risk factors.
Keywords
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Article info
Publication history
Published online: November 12, 2012
Accepted:
October 22,
2012
Received in revised form:
September 23,
2012
Received:
August 1,
2012
Identification
Copyright
© 2012 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
