Joubert syndrome. Report of 5 cases

Objective. To review clinical features, radiological finding and prognosis in Joubert syndrome. Material and methods. We report 5 children (3 male and female) with the diagnosis of Joubert syndrome by clinical and radiological findings. They were diagnosed in the first year of life, in the Hospital Infantil La Pat (Madrid, Spain), from 1971 re 1996. Three patients have already been published and here, we report two new cases. Results. Partial absence of the cerebellar vermis, hypotonia and developmental delay were seen in all patients. Other cardinal findings were episodic hyperpnoea (5/5) with periods of apnoea (2/5), abnormal eye movements (2/5) and strabismus (3/5), tongue protrusion (2/5), seizures (1/5), hemifacial spasms (1/5) and occipital meningocele (2/5). Clinical manifestations were first noticed soon after birth. Two patients died iii the first 5 years of life, and the rest of the the cases actually show severe mental retardation. Conclusions, Joubert syndrome is a rare and probably underdiagnosed syndrome with bad prognosis. This inherited condition is characterized by agenesis of the cerebellar vermis, mental retardation, hyperpnoea, episodic hyperpnoea and abnormal eye movements. Additional manifestations have been reported since the original cases were described.