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Case Reports
. 2025 Jun 22;17(6):e86551.
doi: 10.7759/cureus.86551. eCollection 2025 Jun.

A Case of Horizontal Gaze Palsy With Progressive Scoliosis and G6PD Deficiency in a Child

Parmeet Kaur  1 , Sangita Yadav  2
Affiliations
Case Reports

A Case of Horizontal Gaze Palsy With Progressive Scoliosis and G6PD Deficiency in a Child

Parmeet Kaur et al. Cureus. .

Abstract

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disease associated with mutation in the Roundabout-3 (ROBO3) gene (chromosome 11q23-25). Here, we present case report of a 7-year old male child born out of consanguineous marriage with history of similar condition in paternal uncle. The child had typical findings of HGPPS, i.e., horizontal gaze palsy, scoliosis, and characteristic findings on MRI associated with homozygous c.575G>A (p.Gly192Asp) mutation in ROBO3 gene. Additionally, mutation in G6PD gene was also observed in this patient, hypothesizing possible association between the two.

Keywords: glucose-6-phosphate-dehydrogenase deficiency (g6pd); horizontal gaze palsy; pediatric scoliosis; pediatrics; robo 3 gene mutation.

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Conflict of interest statement

Human subjects: Informed consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Cardinal directions of gaze (indicated by arrows) in this patient. (a) and (b): normal vertical gaze; (c) and (d): horizontal gaze palsy.
Figure 2
Figure 2. Pectus excavatum deformity (arrow)
Figure 3
Figure 3. Scoliotic deformity is 8.9˚ in X-ray spine
Figure 4
Figure 4. Axial T2-weighted MRI showing rectangular shaped medulla due to mild reduction in volume leading to “butterfly sign” (arrow)
Figure 5
Figure 5. Axial T2-weighted MRI showing partial split in the dorsal aspect of pons (split pons sign; arrow)
Figure 6
Figure 6. Whole genome sequencing report showing ROBO 3 gene mutation
Based on above evidence, this variant (ROBO3:c.575G>A) is classified as uncertain significance variant.
See this image and copyright information in PMC

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