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A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report
Liany F Acosta-Paguada1, Milca S Velásquez-Hernandez1, Paola Sophia Bonilla Medina2,3
1Faculty of Medicine, Catholic University of Honduras, San Pedro Sula, Honduras.
Journal of Medical Case Reports
|September 2, 2025
Summary
Joubert syndrome, a rare ciliopathy, can involve metabolic dysfunction in CSPP1 variants. This case highlights insulin resistance and liver disease in a patient with CSPP1-related Joubert syndrome, expanding its known symptoms.
Area of Science:
- Genetics
- Neurology
- Endocrinology
Background:
- Joubert syndrome is a ciliopathy featuring cerebellar hypoplasia and the molar tooth sign.
- Pathogenic variants in CSPP1 cause approximately 3% of Joubert syndrome cases.
- Metabolic dysfunction has not been previously described in CSPP1-related Joubert syndrome.
Purpose of the Study:
- To describe a novel presentation of CSPP1-related Joubert syndrome.
- To investigate the potential role of CSPP1 in metabolic homeostasis.
Main Methods:
- Case report of a 16-year-old female with CSPP1-related Joubert syndrome.
- Clinical evaluation including neuroimaging and genetic testing.
- Assessment of metabolic parameters and liver health.
Main Results:
- The patient presented with insulin resistance, early-onset diabetes, dyslipidemia, and metabolic dysfunction-associated steatotic liver disease.
- Neuroimaging confirmed cerebellar vermis hypoplasia.
- Genetic testing identified a pathogenic heterozygous CSPP1 variant (c.3052C>T, p.Gln1018).
- The patient lacked typical neurological symptoms of Joubert syndrome.
Conclusions:
- This case expands the known phenotypic spectrum of CSPP1-related Joubert syndrome.
- CSPP1 may play a role in metabolic homeostasis.
- Further research is needed to elucidate the mechanisms underlying CSPP1's role in metabolic dysfunction.
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