Abstract
Joubert et al. first reported a familial syndrome which showed episodic tachypena, abnormal eye movement, mental and motor retardation. Since then eighteen cases have been reported in the world .
In this paper, we reported a male baby with Joubert syndrome who was obserbed since the newborn period. He showed episodic tachypnea (respiratory rate over 100/min), apnea, severe mental and motor retardation, no normal eye movements, occipital meningocele, high arched palate and poor sucking. CT scan revealed vermian agenesis, hypoplasia and deformity of brainstem, enlarged fourth ventricle and cisterna magna. EEG showed episodic discharges. Laboratory test investigations including amino acids, lactate, pyruvate, ammonia, chromosomal analysis, IVP and renogram showed no abnormal findings. He showed poor development and at eleventh month of age he died at home because or respiratory arrest.
Similar syndromes were reported by Koya et al., Dekaban, Gardner et al., D'Agostino et al. and Friede. They reported syndromes consisting of abnormal respiration, abnormal eye movements, mental and motor retardation, occipital meningocele, retinal degeneration and polycystic kidney. Some causative events may have occurred at 6 to 7 weeks of gestation affecting central nervous system as well as other organs.
