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Adult Presentation of Joubert Syndrome Presenting With Dysphagia: A Case Report

Joubert syndrome (JS) is a rare autosomal recessive disease affecting the cilium, an intracellular organelle. It has a wide spectrum of presentations with the involvement of multiple genes. JS has multiple subtypes that are either pure JS or JS with other organ involvement such as the kidneys, liver...

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Detalles Bibliográficos
Autores principales: Al-Smair, Ali, Younes, Sara, Saadeh, Osama, Saadeh, Ahmad, Al-Ali, Ahmad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9114833/
https://www.ncbi.nlm.nih.gov/pubmed/35602833
http://dx.doi.org/10.7759/cureus.24226
Descripción
Sumario:Joubert syndrome (JS) is a rare autosomal recessive disease affecting the cilium, an intracellular organelle. It has a wide spectrum of presentations with the involvement of multiple genes. JS has multiple subtypes that are either pure JS or JS with other organ involvement such as the kidneys, liver, and others. However, all subtypes share the involvement of the cerebellar peduncles and the brainstem, which presents as “a molar tooth sign” on magnetic resonance imaging, hypotonia, and intellectual disability. It has a higher prevalence among children with few able to survive to adulthood. Unfortunately, survivors live with debilitating comorbidities. Here, we present the case of a 20-year-old patient who presented with a new onset of dysphagia that led to a diagnosis of JS.