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

Parmeet Kaur1, Sangita Yadav2

  • 1Pediatrics and Child Health, Hamdard Institute of Medical Sciences, New Delhi, IND.

Cureus
|July 23, 2025
PubMed

Insights

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare genetic disorder. This case report details a child with HGPPS, revealing a novel ROBO3 gene mutation and a potential link to G6PD deficiency.

Area of Science:

  • Genetics and rare diseases
  • Neurology and ophthalmology

Background:

  • Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder.
  • HGPPS is linked to mutations in the Roundabout-3 (ROBO3) gene located on chromosome 11q23-25.

Observation:

  • A case report of a 7-year-old male child with a history of HGPPS in the family.
  • The child presented with classic HGPPS symptoms: horizontal gaze palsy and scoliosis.
  • Characteristic MRI findings were observed, consistent with HGPPS.

Findings:

  • Genetic analysis revealed a homozygous c.575G>A (p.Gly192Asp) mutation in the ROBO3 gene.
  • Concurrently, a mutation in the Glucose-6-phosphate dehydrogenase (G6PD) gene was identified in the same patient.
  • This presents a potential novel association between ROBO3 and G6PD gene mutations.

Implications:

  • The findings expand the known spectrum of ROBO3 mutations causing HGPPS.
  • The co-occurrence of ROBO3 and G6PD mutations suggests a possible genetic interaction or shared pathway.
  • Further research is warranted to elucidate the relationship between these genetic mutations and their clinical impact.

Keywords:
glucose-6-phosphate-dehydrogenase deficiency (g6pd)horizontal gaze palsypediatric scoliosispediatricsrobo 3 gene mutation

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