Early-onset or rapidly progressive scoliosis in children: check the eyes!

Article Article scientifique Article Early-onset or rapidly progressive scoliosis in children: check the eyes! eng 2013 author Kurian Mary 786760 author Megevand Chloé 544405 author De Haller Raoul Michel 518005 author Merlini Laura 593185 author Boex Colette 0000-0002-9374-4791 28086 author Truffert André 108064 author Kaelin André 26973 author Burglen L author Korff Christian 0000-0002-3328-7680 30053 671-675 10.1016/j.ejpn.2013.05.011 23810770 1090-3798 Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder characterized by the absence of conjugate horizontal eye movements, and progressive scoliosis developing in childhood and adolescence, caused by mutations in the ROBO3 gene which has an important role in axonal guidance and neuronal migration. We describe two female children aged 12 years and 18 months, with progressive scoliosis, in whom the neurological examination showed absent conjugate horizontal eye movements, but preserved vertical gaze and convergence. Cerebral Magnetic resonance imaging findings included pontine hypoplasia, absent facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft, while Diffusion tensor imaging (DTI) maps showed the absence of decussating ponto-cerebellar fibers and superior cerebellar peduncles. Somatosensory and motor evoked potential studies demonstrated ipsilateral sensory and motor responses. The diagnosis was confirmed by the identification of bi-allelic mutations in the ROBO3 gene. Dewey 616.0757 Dewey 616.8 Dewey 618 58 Département de pédiatrie, gynécologie et obstétrique 223 61 Département des neurosciences cliniques 226 62 Département de radiologie et informatique médicale 227 false 504 Groupe Hanquinet Sylviane (radiologie neuro-diagnostique et neuro-interventionnelle en pédiatrie) 842 574 Groupe Lascombes Pierre (orthopédie pédiatrique) 917 541 Groupe Menache Starobinski Caroline 881 European journal of paediatric neurology 17 6 5f9d0a71-a228-4c4f-aa26-760ec14896a0 Article (Published version) Restricted 671-675.pdf 920485 application/pdf restrictedAccess Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique Faculté de médecine / Section de médecine clinique / Département des neurosciences cliniques Faculté de médecine / Section de médecine clinique / Département de radiologie et informatique médicale

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Early-onset or rapidly progressive scoliosis in children: check the eyes!	European journal of paediatric neurology			2013	720	1

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Megevand, Chloé