Customize Consent Preferences

We use cookies to help you navigate efficiently and perform certain functions. You will find detailed information about all cookies under each consent category below.

The cookies that are categorized as "Necessary" are stored on your browser as they are essential for enabling the basic functionalities of the site. ... 

Always Active

Necessary cookies are required to enable the basic features of this site, such as providing secure log-in or adjusting your consent preferences. These cookies do not store any personally identifiable data.

No cookies to display.

Functional cookies help perform certain functionalities like sharing the content of the website on social media platforms, collecting feedback, and other third-party features.

No cookies to display.

Analytical cookies are used to understand how visitors interact with the website. These cookies help provide information on metrics such as the number of visitors, bounce rate, traffic source, etc.

No cookies to display.

Performance cookies are used to understand and analyze the key performance indexes of the website which helps in delivering a better user experience for the visitors.

No cookies to display.

Advertisement cookies are used to provide visitors with customized advertisements based on the pages you visited previously and to analyze the effectiveness of the ad campaigns.

No cookies to display.

Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case
PPrrooggrreessssiivvee DDyysspphhaaggiiaa iinn JJoouubbeerrtt SSyynnddrroommee:: AA RReeppoorrtt ooff aa RRaarree CCaassee

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

Cureus. 2024 Aug 11;16(8):e66648. doi: 10.7759/cureus.66648. eCollection 2024 Aug.

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.

PMID:39258052 | PMC:PMC11386947 | DOI:10.7759/cureus.66648