Early-onset or rapidly progressive scoliosis in children: Check the eyes!
| Autor: | Christian Korff, Mary Kurian, Lydie Burglen, Colette Boex, R. De Haller, André Kaelin, C. Megevand, Laura Merlini, André Truffert |
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| Rok vydání: | 2013 |
| Předmět: |
Receptors
Cell Surface Neurological examination Somatosensory system ddc:616.0757 Ocular Motility Disorders Pons medicine Humans Receptors Immunologic Evoked potential Child Medulla Medulla Oblongata ddc:618 medicine.diagnostic_test Infant Eye movement Magnetic resonance imaging Horizontal gaze palsy General Medicine Anatomy medicine.disease Magnetic Resonance Imaging ddc:616.8 Diffusion Magnetic Resonance Imaging Scoliosis Mutation Pediatrics Perinatology and Child Health Disease Progression Female Neurology (clinical) Psychology Diffusion MRI |
| Zdroj: | European Journal of Paediatric Neurology, Vol. 17, No 6 (2013) pp. 671-5 |
| ISSN: | 1090-3798 |
| DOI: | 10.1016/j.ejpn.2013.05.011 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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