Joubert syndrome is an unprecedented autosomal recessive neuro developmental disorder characterised via way of means of atypical respiratory styles composed of episodic tachypnea/apnea, hypotonia, ataxia, developmental delay, highbrow impairment, ocular impairment, renal cysts, and hepatic fibrosis.

We record the case of 17 months old boy who presented with fever with cough for 8 days with respiratory distress and rapid noisy breathing, Crepts, global developmental delay with audio-visual impairment and moderate to severe hearing loss, chronic kidney disease, hypotonia in all four limbs, and plantar extensors in bilateral lower limbs with pendular nystagmus. Magnetic resonance imaging showing molar teeth signal and a batwing look of the fourth and absence of the characteristic “focal red dot” deep within the interpeduncular fissure on colour-coded FA-maps.