Scientific article

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

Published inEuropean journal of paediatric neurology, vol. 17, no. 6, p. 671-675
Publication date2013

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.

Citation (ISO format)
KURIAN, Mary et al. Early-onset or rapidly progressive scoliosis in children: check the eyes! In: European journal of paediatric neurology, 2013, vol. 17, n° 6, p. 671–675. doi: 10.1016/j.ejpn.2013.05.011
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Article (Published version)
ISSN of the journal1090-3798

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