Acta Scientific Neurology (ASNE) (ISSN: 2582-1121)

Case Report Volume 7 Issue 8

An Adolescent Patient with Horizontal Gaze Palsy and Progressive Scoliosis

Sandesh Nanisetty1*, Rukmini Mridula Kandadai2 and Rupam Borgohain3

1Consultant Neurologist, ARETE Hospital, Hyderabad, India
2Consultant and Director PDMRC, Citi Neuro Center, Hyderabad, India
3Senior Consultant and Director PDMRC, Citi Neuro Center, Hyderabad, India

*Corresponding Author: Sandesh Nanisetty, Consultant Neurologist, ARETE Hospital, Hyderabad, India.

Received: October 21, 2021; Published: July 30, 2024

Abstract

Horizontal gaze palsy with progressive scoliosis (HGPPS) is an uncommon congenital cranial dysinnervation disorder that affects both eye movement and spinal curvature, marked by limited ability to move eyes in horizontal gaze, worsening curvature of spine and brainstem malformations [1]. Only a few cases have been reported from India [2,3]. It is mainly described in consanguineous families. It is linked to a specific gene mutation in the ROBO3 gene located on the 11q23-q25 region of chromosome 11 [4]. It has characteristic clinical and radiological features. Here we present a case of an adolescent male patient with characteristic features of HGPPS.

 Keywords: ROBO 3; Split pons sign; Butterfly Medulla

 

References

  1. Crisfield RJ. “Scoliosis with progressive external ophthalmoplegia in four siblings”. Journal of Bone and Joint Surgery 56 (1974): 484-489.
  2. Shalini P and Shah VM. “Horizontal gaze palsy with progressive scoliosis - A case report”. Indian Journal of Radiology Imaging 27 (2017): 290-292.
  3. Menon V., et al. “Scoliosis associated with HGPPS syndrome: What do we know?” Indian Spine Journal 4 (2021): 250-254.
  4. Butcher J. “Mutations in ROBO3 cause HGPPS”. Lancet Neurology 3 (2004): 328.
  5. Jen JC., et al. “Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis”. Science 304 (2004): 1509-1513.
  6. Rajagopalan S., et al. “Selecting a longitudinal pathway: Robo receptors specify the lateral position of axons in the Drosophila CNS”. Cell 7 (2000): 1033-1045.
  7. Wu W., et al. “Directional guidance of neuronal migration in the olfactory system by the protein slit”. Nature 400 (1999): 331-336.
  8. Bosley TM., et al. “Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3”. Neurology 64 (2005): 1196-1203.
  9. Chi-Wei Lin., et al. “Horizontal gaze palsy with progressive scoliosis: a case report with magnetic resonance tractography and electrophysiological study”. (2018).

Citation

Citation: Sandesh Nanisetty., et al. “An Adolescent Patient with Horizontal Gaze Palsy and Progressive Scoliosis”. Acta Scientific Neurology 7.8 (2024): 37-39.

Copyright

Copyright: © 2024 Sandesh Nanisetty., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.




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