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Background <p>Joubert syndrome is a genetically heterogeneous ciliopathy characterized by cerebellar vermis hypoplasia and the distinctive molar tooth sign on neuroimaging, often accompanied by neurological impairment. Pathogenic CSPP1 variants account for approximately 3% of Joubert syndrome cases. While certain ciliopathies have been associated with metabolic dysfunction, this has not been described in CSPP1-related Joubert syndrome. </p> Case presentation <p>We report a 16-year-old Honduran mestiza female patient with CSPP1-related Joubert syndrome who presented with insulin resistance, early onset diabetes, dyslipidemia, and metabolic dysfunction-associated steatotic liver disease. Notably, she lacked the typical neurological symptoms of Joubert syndrome. Brain magnetic resonance imaging revealed cerebellar vermis hypoplasia, confirming the diagnosis. Genetic testing identified a pathogenic heterozygous CSPP1 variant (c.3052C &gt; T, p.Gln1018), supporting the diagnosis of CSPP1-related Joubert syndrome. </p> Conclusion <p>This case expands the phenotypic spectrum of CSPP1-related Joubert syndrome and raises the possibility of a role for CSPP1 in metabolic homeostasis. Further research is needed to determine whether CSPP1 mutations contribute to metabolic dysfunction via ciliary or centrosome-associated mechanisms.</p>

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A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月2日

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  • Liany F. Acosta-Paguada,
  • Milca S. Velásquez-Hernandez,
  • Paola Sophia Bonilla Medina,
  • Eduardo Smelin Perdomo Domínguez

摘要

Background

Joubert syndrome is a genetically heterogeneous ciliopathy characterized by cerebellar vermis hypoplasia and the distinctive molar tooth sign on neuroimaging, often accompanied by neurological impairment. Pathogenic CSPP1 variants account for approximately 3% of Joubert syndrome cases. While certain ciliopathies have been associated with metabolic dysfunction, this has not been described in CSPP1-related Joubert syndrome.

Case presentation

We report a 16-year-old Honduran mestiza female patient with CSPP1-related Joubert syndrome who presented with insulin resistance, early onset diabetes, dyslipidemia, and metabolic dysfunction-associated steatotic liver disease. Notably, she lacked the typical neurological symptoms of Joubert syndrome. Brain magnetic resonance imaging revealed cerebellar vermis hypoplasia, confirming the diagnosis. Genetic testing identified a pathogenic heterozygous CSPP1 variant (c.3052C > T, p.Gln1018), supporting the diagnosis of CSPP1-related Joubert syndrome.

Conclusion

This case expands the phenotypic spectrum of CSPP1-related Joubert syndrome and raises the possibility of a role for CSPP1 in metabolic homeostasis. Further research is needed to determine whether CSPP1 mutations contribute to metabolic dysfunction via ciliary or centrosome-associated mechanisms.