Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature

BACKGROUND: Pallister-Hall syndrome (OMIM #146510) is a rare autosomal dominant condition caused by a mutation in the GLI3 gene. The cardinal feature of Pallister-Hall syndrome is the presence of hypothalamic hamartomas, which may manifest with seizures, panhypopituitarism and visual impairment. In...

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Detalles Bibliográficos
Autores principales: Consales, Alessandra, Ardemani, Giulia, Cinnante, Claudia Maria, Catalano, Mariana Rita, Giavoli, Claudia, Villa, Roberta, Iascone, Maria, Fontana, Camilla, Bedeschi, Maria Francesca, Fumagalli, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943937/
https://www.ncbi.nlm.nih.gov/pubmed/35331151
http://dx.doi.org/10.1186/s12883-022-02618-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943937/
https://www.ncbi.nlm.nih.gov/pubmed/35331151
http://dx.doi.org/10.1186/s12883-022-02618-0

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