E Wallach1, U Walther-Louvier2, C Espil-Taris3, F Rivier2, E Baudou4, C Cances4. 1. Unité de neuropédiatrie (Neuropaediatrics Unit), hôpital des enfants, CHU Purpan, 330, avenue de Grande-Bretagne, 31059 Toulouse cedex 9, France; Soins de suite et de réadaptation pédiatriques spécialisés (SSR) (Specialist pediatric follow-up and rehabilitation care), Centre Paul-Dottin, 26, avenue Tolosane, 31522 Ramonville-Saint-Agne cedex, France. Electronic address: wallach.e@chu-toulouse.fr. 2. Unité de neuropédiatrie (Neuropediatrics Unit), hôpital Gui-de-Chauliac, CHU de Montpellier, 191, avenue du Doyen-Gaston-Giraud, 34090 Montpellier, France. 3. Unité de neuropédiatrie (Neuropediatrics Unit), groupe hospitalier Pellegrin, CHU de Bordeaux, place Amélie-Raba-Léon, 33000 Bordeaux, France. 4. Unité de neuropédiatrie (Neuropaediatrics Unit), hôpital des enfants, CHU Purpan, 330, avenue de Grande-Bretagne, 31059 Toulouse cedex 9, France.
Abstract
INTRODUCTION: Arthrogryposis is a descriptive term defining a sign. It describes a set of joint contractures, sometimes identifiable in utero, present from birth and nonprogressive. This term includes a heterogeneous group of diseases, of neurological, neuromuscular, genetic or mechanical origin. The common physiopathological mechanism is fetal immobility syndrome. Two types of classification have been developed: a clinical one (types I, II and III) and an etiological one. The main aim of this study was to define a standardized protocol for etiological investigation based on a descriptive analysis of the various etiologies identified in a population of children followed up for arthrogryposis. Its secondary aim was to assess first the comprehensiveness and relevance of the complementary assessment and second the way in which the classifications proposed by Professor Judith Goslin Hall are applied. MATERIAL AND METHODS: Retrospective multicenter observational study. We enrolled pediatric patients with arthrogryposis being treated at a reference center for neuromuscular diseases, i.e., in three university hospital pediatric neurology units, between February 1997 and January 2017. RESULTS: Forty-two patients (25 boys and 17 girls) were enrolled. According to the clinical classification (Hall et al.), this population consisted of eight cases of type 1 arthrogryposis (19.1%), 14 type II (33.3%) and 20 type III (47.6%). The main etiology was neurological (19.1%), predominantly involving problems with gyration of a polymicrogyria type. Myopathic origin accounted for 9.5% of the population, predominantly involving genotyped distal arthrogryposis (ECEL1 gene). Additional tests produced a diagnosis of 25% type I, 43% type II and 75% type III. CONCLUSION: Arthrogryposis is a sign suggesting multiple etiologies. The main ones are neurological. Several genes have recently been identified, explaining the physiopathological mechanisms. The diagnostic process must be rigorous and coordinated within a multidisciplinary team, following a shared protocol for analysis.
INTRODUCTION:Arthrogryposis is a descriptive term defining a sign. It describes a set of joint contractures, sometimes identifiable in utero, present from birth and nonprogressive. This term includes a heterogeneous group of diseases, of neurological, neuromuscular, genetic or mechanical origin. The common physiopathological mechanism is fetal immobility syndrome. Two types of classification have been developed: a clinical one (types I, II and III) and an etiological one. The main aim of this study was to define a standardized protocol for etiological investigation based on a descriptive analysis of the various etiologies identified in a population of children followed up for arthrogryposis. Its secondary aim was to assess first the comprehensiveness and relevance of the complementary assessment and second the way in which the classifications proposed by Professor Judith Goslin Hall are applied. MATERIAL AND METHODS: Retrospective multicenter observational study. We enrolled pediatric patients with arthrogryposis being treated at a reference center for neuromuscular diseases, i.e., in three university hospital pediatric neurology units, between February 1997 and January 2017. RESULTS: Forty-two patients (25 boys and 17 girls) were enrolled. According to the clinical classification (Hall et al.), this population consisted of eight cases of type 1 arthrogryposis (19.1%), 14 type II (33.3%) and 20 type III (47.6%). The main etiology was neurological (19.1%), predominantly involving problems with gyration of a polymicrogyria type. Myopathic origin accounted for 9.5% of the population, predominantly involving genotyped distal arthrogryposis (ECEL1 gene). Additional tests produced a diagnosis of 25% type I, 43% type II and 75% type III. CONCLUSION:Arthrogryposis is a sign suggesting multiple etiologies. The main ones are neurological. Several genes have recently been identified, explaining the physiopathological mechanisms. The diagnostic process must be rigorous and coordinated within a multidisciplinary team, following a shared protocol for analysis.
Authors: Noémi Dahan-Oliel; Sarah Cachecho; Douglas Barnes; Tanya Bedard; Ann M Davison; Klaus Dieterich; Maureen Donohoe; Alicja Fąfara; Reggie Hamdy; Helgi T Hjartarson; Naimisha S Hoffman; Eva Kimber; Igor Komolkin; Ruth Lester; Eva Pontén; Harold J P van Bosse; Judith G Hall Journal: Am J Med Genet C Semin Med Genet Date: 2019-07-07 Impact factor: 3.908