一名患有水平凝视麻痹、进行性脊柱侧弯和葡萄糖-6-磷酸脱氢酶缺乏症的儿童病例。

Kaur Parmeet, Yadav Sangita

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

Paediatrics and Child Health, Hamdard Institute of Medical Sciences, New Delhi, IND.

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

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.

伴有进行性脊柱侧凸的水平凝视麻痹（HGPPS）是一种罕见的常染色体隐性疾病，与轴突导向分子-3（ROBO3）基因（位于11号染色体q23 - 25区域）突变相关。在此，我们报告一例7岁男性患儿，其父母为近亲结婚，患儿的叔祖父有类似病史。该患儿具有HGPPS的典型表现，即水平凝视麻痹、脊柱侧凸，且MRI有特征性表现，同时ROBO3基因存在纯合的c.575G>A（p.Gly192Asp）突变。此外，该患者还检测到葡萄糖-6-磷酸脱氢酶（G6PD）基因的突变，推测二者可能存在关联。