Joubert syndrome with atrial septal defect and persistent left superior vena cava

Abstract

Joubert syndrome is a rare disorder characterized by hypotonia, ataxia, episodic hyperpnoea, psychomotor delay, abnormal ocular movements, and molar tooth sign on magnetic resonance imaging (MRI). This syndrome is inherited as an autosomal recessive trait, but the molecular basis and specific chromosomal locus have not yet been identified. MRI features are the most important diagnostic criteria. Molar tooth sign was previously described in Joubert syndrome and was found in 85% of patients with Joubert syndrome. Many authors now claim that this finding can be present in other syndromes, including Dekaban-Arima, Senior-Loken, COACH, and Varadi-Papp. We present a 7-month-old girl with Joubert syndrome in whom MRI showed the typical features of this condition. She also had polydactyly, atrial septal defect, and persistent left superior vena cava.