A Case of Joubert Syndrome Associated with Endstage Renal Disease and Meningocele

ABSTRACT

Joubert syndrome is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia, hypotonia, developmental delay and either abnormal respiratory pattern(neonatal episodic tachypnea, or apnea), or altered eye movements. We describe a girl with Joubert syndrome associated with multicystic renal dysplasia and meningocele. The clinical and pathological findings of this patient included hypoplasia of the cerebella vermis, bilateral multicystic kidney, hepatic fibrosis, occipital meningocele, severe visual impairment from early infancy, profound psychomotor retartdation, hypotonia, nystagmus and progressive chronic renal insufficiency. Continuous peritoneal dialysis and medical control of azotemia, hyperkalemia and hypertension was instituted immediately. Concomitant malformation of these systems are likely based upon their common developmental and genetic features.