Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem

An 8-month-old girl with a history of asphyxia and respiratory distress immediately after birth was hospitalized at her fourth month of age with the diagnosis of kidney infection and it was revealed that she had a unilateral multicystic dysplastic kidney. In recent admission,she presented to emergency room with fever,hyperpnea,and apnea. In appearance,she was a hypotonic girl with broad forehead,hypertelorism,depressed nasal bridge and bitemporal regions,rapid vertical and horizontal nystagmus,and open mouth with salivation. In spite of normal physical growth,she had delayed developmental milestones. Blood gas O 2 saturation dropped after she received phenobarbital. Her urinary and blood tests were normal; however,her cranial magnetic resonance imaging (MRI) revealed vermis agenesis and molar tooth sign. These physical and para-clinical findings suggested Joubert syndrome.