Case 278: Mutation in ROBO3 Gene-Horizontal Gaze Palsy and Progressive Scoliosis

Radiology. 2020 Jun;295(3):736-740. doi: 10.1148/radiol.2020181238.

Abstract

HistoryA 13-year-old girl was born to consanguineous parents. She presented with mild intellectual impairment, convergent strabismus, horizontal gaze palsy, and bilateral abducens palsy. Vertical gaze was preserved, and no abnormalities suggesting facial paralysis were noted. In addition, she reported progressive back pain since she was 5 years old. Other symptoms were denied. No medications or related drugs had been administered thus far. The patient underwent brain MRI for further evaluation. Current and previous spine radiographs were also reviewed.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Consanguinity
  • DNA Mutational Analysis*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Ophthalmoplegia, Chronic Progressive External / diagnostic imaging
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Rare Diseases
  • Receptors, Cell Surface / genetics*
  • Scoliosis / diagnostic imaging
  • Scoliosis / genetics*

Substances

  • ROBO3 protein, human
  • Receptors, Cell Surface

Supplementary concepts

  • Gaze Palsy, Familial Horizontal, with Progressive Scoliosis