Acute but transient neurological deterioration revealing adult polyglucosan body disease

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• 作者：Sé ; gol&#232 ; ne Billot^a ; Dominique Hervé ; ^b ; Hasan O. Akman^c ; Roseline Froissart^d ; Christiane Baussan^e ; Kristl G. Claeys^f ; ^g ; Monique Piraud^d ; Fré ; dé ; ric Sedel^h ; ⁱ ; Fanny Mochelⁱ ; ^j ; ^k ; ^l ; Pascal Laforê ; tⁱ ; ^m ; ^{pascal.laforet@psl.aphp.fr}
• 关键词：Glycogen storage disease type IV ; Adult polyglucosan body disease (APBD) ; Branching enzyme deficiency ; Leukoencephalopathy
• 刊名：Journal of the Neurological Sciences
• 出版年：2013
• 出版时间：15 January, 2013
• 年：2013
• 卷：324
• 期：1-2
• 页码：179-182
• 全文大小：870 K

文摘

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.