Joubert syndrome with typical magnetic resonance imaging findings

Abstract

Joubert syndrome (JS) is an autosomal recessive disorder characterized by hypotonia, ataxia, specific breathing irregularities such as episodic apnea and hyperapnea (which improves with age), global developmental delay, nystagmus, strabismus, ptosis, and oculomotor apraxia. A 4 months old male child presented in ER as a case of acute respiratory illness. There was no h/o any seizure in the past or any family history of seizure with history of 3^rd degree consanguineous marriage. On examination there was no head control with unilateral Ptosis in right eye and horizontal nystagmus as shown in figure 1 along with global developmental delay. Patient was managed for Acute respiratory illness but on magnetic resonance imaging (MRI) brain which was done in view of global developmental delay with hypotonia and nystagmus showed classical molar tooth appearance and was diagnosed with JS. As this patient had abnormal head movements and MRI brain showing Joubert like presentation, so patient was labelled with diagnosis of JS and was discharged after counselling.