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Horizontal gaze palsy with progressive scoliosis: CT and MR findings

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Abstract

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developing in childhood and adolescence. We present a child with clinical and neuroimaging findings typical of HGPPS. CT and MRI of the brain demonstrated pons hypoplasia, absence of the facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft. We briefly discuss the imaging aspects of this rare entity in light of the current literature.

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References

  1. Rossi A, Catala M, Biancheri R et al (2004) MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis. AJNR 25:1046–1048

    PubMed  Google Scholar 

  2. Santos AV, Matias S, Saraiva P et al (2006) MR imaging features of brain stem hypoplasia in familial horizontal gaze palsy and scoliosis. AJNR 27:1382–1383

    PubMed  Google Scholar 

  3. Pieh C, Lengyel D, Neff A et al (2002) Brainstem hypoplasia in familial horizontal gaze palsy and scoliosis. Neurology 59:462–463

    PubMed  CAS  Google Scholar 

  4. Jen J, Coulin CJ, Bosley TM et al (2002) Familial horizontal gaze with progressive scoliosis maps to chromosome 11q23-25. Neurology 59:432–435

    PubMed  Google Scholar 

  5. Lo B, Banwell B, Blaser S et al (2004) The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23. Clin Genet 65:137–142

    Article  PubMed  CAS  Google Scholar 

  6. Bosley TM, Salih MA, Jen JC et al (2005) Neurologic features of horizontal gaze palsy and progressive scoliosis with mutation in ROBO3. Neurology 64:1196–1203

    PubMed  CAS  Google Scholar 

  7. Kim JH, Hwang JM (2005) Usefulness of MR imaging in children without characteristic clinical findings of Duane’s retraction syndrome. AJNR 26:702–705

    PubMed  Google Scholar 

  8. Pedraza S, Gamez J, Rovira A et al (2000) MRI findings in Mobius syndrome: correlation with clinical features. Neurology 55:1058–1060

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Radiology, The Sarah Network of Rehabilitation Hospitals, Av. Presidente Juscelino Kubitschek, 4.500 Passaré Fortaleza, Ceara, 60.861–630, Brazil

    Rodrigo C. Bomfim, Daniel G. F. Távora, Mauro Nakayama & Rômulo L. Gama

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  1. Rodrigo C. Bomfim
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  2. Daniel G. F. Távora
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  3. Mauro Nakayama
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  4. Rômulo L. Gama
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Correspondence to Rodrigo C. Bomfim.

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Bomfim, R.C., Távora, D.G.F., Nakayama, M. et al. Horizontal gaze palsy with progressive scoliosis: CT and MR findings. Pediatr Radiol 39, 184–187 (2009). https://doi.org/10.1007/s00247-008-1058-8

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  • DOI: https://doi.org/10.1007/s00247-008-1058-8

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