Joubert Syndrome: A Rare Case Report From Saudi Arabia

Abstract

Joubert syndrome (JS) is a rare genetic disorder. We report a 15-month-old girl who presented with developmental delay, decrease vision, failure to thrive and history of two hospital admissions with respiratory distress and recurrent aspiration pneumonia due to gastroesophageal reflux disease. On examination, she had facial dysmorphism, nystagmus, retinopathy and hypotonia. Brain magnetic resonance imaging revealed cerebellar vermis hypoplasia, abnormally thick superior cerebellar peduncles, a batwing configuration of the fourth ventricle, and the characteristic molar tooth sign of mid-brain suggestive of JS. Patient was referred to the genetic department outside our hospital where the diagnosis of JS was confirmed. In conclusion, awareness of the characteristic clinical and radiological findings in JS will help in early diagnosis, appropriate counseling and proper rehabilitation.




J Med Cases. 2017;8(6):180-182
doi: https://doi.org/10.14740/jmc2832w