Co-occurrence of syndrome of horizontal gaze palsy with progressive scoliosis with stroke in young: a case report

Authors

  • Mohamed Murtuza Kauser Department of Internal Medicine, Basaveshwara Medical College and Hospital, Chitradurga, Karnataka
  • Prabhakar Kamarthy Department of Internal Medicine, Sri Devraj Urs Medical College, Kolar, Karnataka
  • Asfia Afreen Department of Biochemistry, Basaveshwara Medical College and Hospital, Chitradurga, Karnataka
  • Raveesha Anjinappa Department of Internal Medicine, Sri Devraj Urs Medical College, Kolar, Karnataka

Keywords:

HGPPS, Stroke in young, ROBO 3 gene

Abstract

Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) is a rare autosomal recessive syndrome of hind brain maldevelopment associated with ocular and skeletal manifestations. To the best of our knowledge there have been no case reports from India although a family of Indian decent has been reported from Saudi Arabia. The clinical and MRI features along with its co-occurrence with stroke in young will be described in this paper.

References

Jen J, Coulin CJ, Bosley TM, Salih MA, Sabatti C, Nelson SF, et al. Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. Neurology. 2002;59:432-5.

Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, et al. Mutations in a human ROBO gene disrupt hind brain axon pathway crossing and morphogenesis. Science. 2004;304:1509-13.

Andrea Rossi, Martin Catala, Roberta Biancheri, Raffaella Di Comite, Paolo Tortori-Donati. MRI imaging of brain stem hypoplasia in horizontal gaze palsy with progressive scoliosis. AJNR Am J Neuroradiol. 2004;25:1046-8.

Crisfield RJ. Scoliosis with progressive external ophtalmoplegia in four siblings. J Bone Joint Surg 1974;56B:484-9.

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Published

2017-01-26

How to Cite

Kauser, M. M., Kamarthy, P., Afreen, A., & Anjinappa, R. (2017). Co-occurrence of syndrome of horizontal gaze palsy with progressive scoliosis with stroke in young: a case report. International Journal of Research in Medical Sciences, 2(4), 1718–1719. Retrieved from https://www.msjonline.org/index.php/ijrms/article/view/2493