Scholarlink

Background <p>Spondyloocular syndrome is a rare heritable connective tissue disorder classified within the group of linkeropathies. Although rare, it poses a significant diagnostic challenge due to its phenotypic overlap with more common conditions such as osteogenesis imperfecta, especially in patients presenting with juvenile-onset osteoporosis. It is often underdiagnosed, leading to mismanagement of patients. Although we previously reported the first case of spondyloocular syndrome from India, this represents the second case from our country, presenting with a distinct phenotype.</p> Case presentation <p>We report the case of a 23-year-old female who presented with a history of recurrent long bone fractures starting from infancy. Initially diagnosed with osteogenesis imperfecta based on her clinical presentation, she was treated with intermittent zoledronic acid infusions and managed with casts following fractures. However, despite treatment, her response raised suspicions of an alternate diagnosis. Whole-exome sequencing was subsequently performed, identifying a pathogenic variant, c.2401A &gt; T(p.Thr801Ser), in exon 11 of the <i>XYLT2</i> gene (NM_022167), which confirmed the diagnosis of spondyloocular syndrome. This variant has been implicated in disrupting xylosyltransferase activity, contributing to the connective tissue abnormalities observed in this syndrome.&#xa0;The patient’s treatment was optimised with biannual zoledronic acid infusions following the molecular diagnosis. She demonstrated marked clinical improvement throughout treatment, characterised by a reduction in fracture frequency and an increase in bone mineral density. The patient's clinical course highlights the importance of accurate genetic diagnosis in guiding appropriate therapy, particularly for rare disorders that may initially resemble more common conditions.</p> Conclusion <p>This case highlights the critical need for thorough evaluation in cases of juvenile osteoporosis, especially those unresponsive to conventional treatment for osteogenesis imperfecta. Genetic testing, including whole-exome sequencing, should be considered to ensure an accurate diagnosis and personalised management. As demonstrated in this case, timely molecular diagnosis and tailored therapeutic interventions can significantly improve patient outcomes in rare connective tissue disorders, such as spondyloocular syndrome.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Eye and bone involvement is not always osteogenesis imperfecta: unravelling the second case of spondyloocular syndrome from India

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年8月21日

查看全文
  • Ajaz Qadir,
  • Ankit Chhabra,
  • Shahid Ahmad Ganie,
  • Mohd Rafi Mir

摘要

Background

Spondyloocular syndrome is a rare heritable connective tissue disorder classified within the group of linkeropathies. Although rare, it poses a significant diagnostic challenge due to its phenotypic overlap with more common conditions such as osteogenesis imperfecta, especially in patients presenting with juvenile-onset osteoporosis. It is often underdiagnosed, leading to mismanagement of patients. Although we previously reported the first case of spondyloocular syndrome from India, this represents the second case from our country, presenting with a distinct phenotype.

Case presentation

We report the case of a 23-year-old female who presented with a history of recurrent long bone fractures starting from infancy. Initially diagnosed with osteogenesis imperfecta based on her clinical presentation, she was treated with intermittent zoledronic acid infusions and managed with casts following fractures. However, despite treatment, her response raised suspicions of an alternate diagnosis. Whole-exome sequencing was subsequently performed, identifying a pathogenic variant, c.2401A > T(p.Thr801Ser), in exon 11 of the XYLT2 gene (NM_022167), which confirmed the diagnosis of spondyloocular syndrome. This variant has been implicated in disrupting xylosyltransferase activity, contributing to the connective tissue abnormalities observed in this syndrome. The patient’s treatment was optimised with biannual zoledronic acid infusions following the molecular diagnosis. She demonstrated marked clinical improvement throughout treatment, characterised by a reduction in fracture frequency and an increase in bone mineral density. The patient's clinical course highlights the importance of accurate genetic diagnosis in guiding appropriate therapy, particularly for rare disorders that may initially resemble more common conditions.

Conclusion

This case highlights the critical need for thorough evaluation in cases of juvenile osteoporosis, especially those unresponsive to conventional treatment for osteogenesis imperfecta. Genetic testing, including whole-exome sequencing, should be considered to ensure an accurate diagnosis and personalised management. As demonstrated in this case, timely molecular diagnosis and tailored therapeutic interventions can significantly improve patient outcomes in rare connective tissue disorders, such as spondyloocular syndrome.