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

Abstract EN

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 O2 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.