# Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case

## TL;DR

This paper reports a rare case of Joubert syndrome in a two-month-old infant with unusual symptoms, emphasizing the importance of early diagnosis for better outcomes.

## Contribution

The novelty lies in presenting an atypical clinical presentation of Joubert syndrome with respiratory distress and aspiration pneumonia.

## Key findings

- The patient exhibited respiratory distress and aspiration pneumonia as initial symptoms of Joubert syndrome.
- Early recognition of Joubert syndrome through clinical and radiologic findings is crucial for timely interventions.
- MRI confirmed cerebellar and brainstem malformations consistent with Joubert syndrome.

## Abstract

Joubert syndrome is an uncommon, autosomal recessive disorder characterized by abnormal brain development involving the underdevelopment or absence of the cerebellar vermis. The classic clinical features include developmental delays, hypotonia, abnormal eye movements, and hyperpnea. On brain magnetic resonance imaging (MRI), an essential finding for the diagnosis of Joubert syndrome is a cerebellar and brainstem malformation called the molar tooth sign, characterized by a hypoplastic cerebellar vermis with dysplasia of the superior cerebellar peduncles. Here, we describe a case of a two-month-old female with an atypical presentation of Joubert syndrome. Her initial clinical presentation included respiratory distress and concerns for reflux complicated with aspiration pneumonia. Early recognition of clinical and radiologic findings for Joubert syndrome enables an early diagnosis, and therefore timely interventions for improving the child’s development and quality of life.