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

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

Abstract 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 impairm...

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Bibliographic Details
Main Authors: Alessandra Consales, Giulia Ardemani, Claudia Maria Cinnante, Mariana Rita Catalano, Claudia Giavoli, Roberta Villa, Maria Iascone, Camilla Fontana, Maria Francesca Bedeschi, Monica Fumagalli
Format: Article
Language:English
Published: BMC 2022-03-01
Series:BMC Neurology
Subjects:
Hypothalamic hamartoma
Pallister-Hall syndrome
cerebral ultrasound
brain MRI
Online Access:https://doi.org/10.1186/s12883-022-02618-0

Internet

https://doi.org/10.1186/s12883-022-02618-0

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