Early-onset or rapidly progressive scoliosis in children: Check the eyes! |
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| Institution: | 1. Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland;2. Ophthalmology, University Hospitals, Geneva, Switzerland;3. Radiology, University Hospitals, Geneva, Switzerland;4. Neurology, University Hospitals, Geneva, Switzerland;5. Pediatric Orthopedic Surgery, University Hospitals, Geneva, Switzerland;6. AP-HP, Department of Genetics and Reference Center for Cerebellar Malformations, Armand Trousseau Hospital, Paris, France;1. Department of Pediatric Neurology, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan;2. Department of Pediatrics, Okazaki City Hospital, Okazaki, Aichi, Japan;3. Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan;4. Department of Pediatrics, Anjo Kosei Hospital, Anjo, Aichi, Japan;5. Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan;6. Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan;7. Department of Pediatrics, Aichi Medical University, Nagakute, Aichi, Japan;1. Department of Medical Imaging, Royal Children’s Hospital Melbourne, Flemington Road, Parkville, VIC 3052, Australia;2. Department of Medical Imaging, Royal Children’s Hospital Brisbane, Herston, QLD, Australia;3. Florey Neuroscience Institutes, Melbourne Brain Centre, Melbourne, VIC, Australia;4. Department of Radiology, University of Melbourne, Parkville, VIC, Australia;1. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota;2. Department of Radiology, Mayo Clinic, Rochester, Minnesota;1. Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota;2. Department of Neurology, Mayo Clinic, Rochester, Minnesota;3. Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota;4. Department of Radiology, Mayo Clinic, Rochester, Minnesota;1. Department of Paediatric Neurology and Child Development, Ryegate Children''s Centre, Sheffield Children''s Hospital NHS Foundation Trust, Tapton Crescent Road, Sheffield S10 5DD, UK;2. Department of Neonatology, Jessop Wing, Sheffield Teaching Hospitals NHS, Foundation Trust, Tree Root Walk, Sheffield S10 2SF, UK;3. Academic Unit of Radiology, University of Sheffield, Floor C, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK |
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| Abstract: | 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. |
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| Keywords: | Gaze palsy Horizontal Scoliosis |
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