title: 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.affiliation: Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Malfatti
authors.affiliation: Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France; AP-HP, Service de Neuropédiatrie, Hôpital Necker-Enfants Malades, Paris, France; Centre de Référence Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Paris, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Barnerias
authors.affiliation: Department of Pathology and Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
authors.forename: Carola
authors.initials: C
authors.lastname: Hedberg-Oldfors
authors.affiliation: Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France; Centre de Référence Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Paris, France; AP-HP Service des Explorations Foctionnelles Neurologiques, Höpital Universitaire Necker-Enfants Malades, Paris, France.
authors.forename: Cyril
authors.initials: C
authors.lastname: Gitiaux
authors.affiliation: Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France; AP-HP, Service de Neuropédiatrie, Hôpital Necker-Enfants Malades, Paris, France; Centre de Référence Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Paris, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Benezit
authors.affiliation: Department of Pathology and Genetics, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
authors.forename: Anders
authors.initials: A
authors.lastname: Oldfors
authors.affiliation: Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France; Centre de Référence Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Paris, France; U1179 INSERM-UVSQ, Université Versailles Saint-Quentin en Yvelines, Montigny, France; AP-HP, Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Paris, France.
authors.forename: Robert-Yves
authors.initials: RY
authors.lastname: Carlier
authors.affiliation: Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France; Centre de Référence Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Paris, France; AP-HP, Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Paris, France.
authors.forename: Susana
authors.initials: S
authors.lastname: Quijano-Roy
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France. Electronic address: nb.romero@institut-myologie.org.
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
mesh_terms: D001176:Arthrogryposis / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D002675:Child, Preschool; D005936:Glucans / Q000378:metabolism*; D006011:Glycogen Storage Disease Type IV / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D010641:Phenotype; D013122:Spinal Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*
chemical_list: D005936:Glucans; C083094:polyglucosan
keywords: Branching enzyme deficiency; Glycogen storage disorders; Glycogenosis type IV; Metabolic myopathies; Polyglucosan