title: Acute but transient neurological deterioration revealing adult polyglucosan body disease.
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.
authors.affiliation: AP-HP, Service de neurologie, Hôpital Avicenne, Bobigny, France.
authors.forename: Ségolène
authors.initials: S
authors.lastname: Billot
authors.forename: Dominique
authors.initials: D
authors.lastname: Hervé
authors.forename: Hasan O
authors.initials: HO
authors.lastname: Akman
authors.forename: Roseline
authors.initials: R
authors.lastname: Froissart
authors.forename: Christiane
authors.initials: C
authors.lastname: Baussan
authors.forename: Kristl G
authors.initials: KG
authors.lastname: Claeys
authors.forename: Monique
authors.initials: M
authors.lastname: Piraud
authors.forename: Frédéric
authors.initials: F
authors.lastname: Sedel
authors.forename: Fanny
authors.initials: F
authors.lastname: Mochel
authors.forename: Pascal
authors.initials: P
authors.lastname: Laforêt
mesh_terms: D000328:Adult; D000483:Alleles; D001706:Biopsy; D001921:Brain / Q000473:pathology; D004247:DNA / Q000235:genetics; D005260:Female; D005936:Glucans / Q000378:metabolism*; D006010:Glycogen Storage Disease Type III / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007962:Leukocytes / Q000737:chemistry; D059411:Lower Urinary Tract Symptoms; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D009422:Nervous System Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D020127:Recovery of Function
chemical_list: D005936:Glucans; D004247:DNA; C083094:polyglucosan