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.
Keywords: batwing; case report; ciliopathy; joubert syndrome; molar tooth sign.
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