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

Abstract

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.

• Authors: Edoardo Malfatti, Christine Barnerias, Carola Hedberg-Oldfors, Cyril Gitiaux, Audrey Benezit, Anders Oldfors, Robert-Yves Carlier, Susana Quijano-Roy, Norma B Romero
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 26 Issue 10 Pg. 681-687 (10 2016) ISSN: 1873-2364 [Electronic] England
• PMID: 27546458 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2016. Published by Elsevier B.V.

Chemical References

• Glucans
• polyglucosan

Topics

• Arthrogryposis (complications, diagnostic imaging, pathology, physiopathology)
• Child, Preschool
• Glucans (metabolism)
• Glycogen Storage Disease Type IV (complications, diagnostic imaging, pathology, physiopathology)
• Humans
• Male
• Muscle, Skeletal (diagnostic imaging, metabolism, pathology)
• Phenotype
• Spinal Diseases (complications, diagnostic imaging, pathology, physiopathology)