Case series: Joubert syndrome and eosinophilic esophagitis
Abstract
Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects. The underlying ciliopathy causing JS may also contribute to gastrointestinal symptoms and immune dysregulation via Wnt signaling and impaired epithelial maintenance. Dysmotility including Hirschsprung disease has been documented at increased rates in JS and in other ciliopathies. Our case series highlights how JS patients frequently exhibit feeding intolerance, vomiting, and poor growth, which may raise suspicion for an underlying gastrointestinal condition, such as eosinophilic esophagitis (EoE). Gastrointestinal symptoms often overlap with other chronic issues, delaying diagnosis and treatment, which can affect long-term outcomes. These cases underscore the importance of thorough evaluations, including endoscopy, to investigate persistent symptoms suggestive of eosinophilic gastrointestinal diseases (EGIDs)/EoE. Such vigilance promotes early targeted therapies, improves quality of life, and decreases the risk of complications including formation of esophageal strictures.
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Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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