A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

作者：Malfatti Edoardo; Barnerias Christine; Hedberg Oldfors Carola; Gitiaux Cyril; Benezit Audrey; Oldfors Anders; Carlier Robert Yves; Quijano Roy Susana; Romero Norma B

来源：Neuromuscular Disorders, 2016, 26(10): 681-687.

DOI：10.1016/j.nmd.2016.07.005

• Glycogen storage disorders
• Glycogenosis type IV
• Branching enzyme deficiency
• Metabolic myopathies
• Polyglucosan

Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness. A 3-year-old boy presented with arthrogryposis, motor developmental delay, weakness, and rigid spine. Whole body MRI revealed fibroadipose muscle replacement but sparing of the sartorius, gracilis, adductor longus and vastus intermedialis muscles. Polyglucosan bodies were identified in muscle, and GBE1 gene analysis revealed two pathogenic variants. We describe a novel neuromuscular GSD IV phenotype and confirm the importance of muscle morphological studies in early onset neuromuscular disorders.

• 出版日期2016-10