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

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.

Keywords: feeding difficulty; joubert syndrome (js); joubert syndrome and related diseases; molar tooth sign; neonatal hypotonia; progressive dysphagia.

Figure 1. MRI of the brain showing relative hypoplasia of portions of the midbrain with a molar tooth sign as indicated by the circle

Figure 2. X-ray of the chest showing bilateral patchy airspace opacities as indicated by the white arrow