Case study Early-onset or rapidly progressive scoliosis in children: Check the eyes! M. Kurian a, * ,g , C. Megevand a,g , R. De Haller b , L. Merlini c , C. Boex d , A. Truffert d , A. Kaelin e , L. Burglen f , C.M. Korff a a Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland b Ophthalmology, University Hospitals, Geneva, Switzerland c Radiology, University Hospitals, Geneva, Switzerland d Neurology, University Hospitals, Geneva, Switzerland e Pediatric Orthopedic Surgery, University Hospitals, Geneva, Switzerland f AP-HP, Department of Genetics and Reference Center for Cerebellar Malformations, Armand Trousseau Hospital, Paris, France article info Article history: Received 5 December 2012 Received in revised form 12 May 2013 Accepted 25 May 2013 Keywords: Gaze palsy Horizontal Scoliosis abstract Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder characterized by the absence of conjugate horizontal eye movements, and pro- gressive 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 find- ings 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 pe- duncles. 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. ª 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. 1. Introduction Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder characterized by the absence of conjugate horizontal eye movements, preservation of vertical gaze and convergence, and progressive scoliosis, developing in childhood and adolescence. The syndrome in- cludes a distinctive brain stem malformation and defective crossing of brain stem neuronal pathways. 1 The gene involved encodes the protein ROBO3, which plays a role in axonal * Corresponding author. Pediatric Neurology, Ho ˆ pital des Enfants, 6 Rue Willy Donze ´ , 1211 Gene ` ve 14, Switzerland. Tel.: þ41 22 382 45 72; fax: þ41 22 382 54 89. E-mail address: mary.kurian@hcuge.ch (M. Kurian). g Kurian M and Megevand C contributed equally to the work. Official Journal of the European Paediatric Neurology Society european journal of paediatric neurology 17 (2013) 671 e675 1090-3798/$ e see front matter ª 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.ejpn.2013.05.011