A Case of Joubert Syndrome Associated with Nephrocalcinosis and Agenesis of Cerebellar Vermis

There are several diseases characterized by neurologic abnormalities and renal disease. Joubert syndrome is one of them. Joubert syndrome is a relatively rare autosomal recessive syndrome. The most significant and constant neurologic finding is hypoplasia of the cerebellar vermis. Joubert syndrome is associated with hypotonia, retinal dystrophy, abnormal eye movement, delayed development, abnormal respiratory pattern (neonatal episodic tachypnea or apnea) and nephronophthisis. We report a boy with Joubert syndrome associated with nephrocalcinosis and agenesis of the cerebellar vermis. This patient had also abnormal eye movement, hypotonia, abnormal respiratory pattern, delayed development and chronic renal failure.

Congenital Ocular Motor Apraxia without Head Thrusts: A Case of Joubert Syndrome

Joubert syndrome is the very rare autosomal recessive disorder which is including agenesis of cerebellar vermis, respiratory discomfort, ocular motor apraxia, hereditary retinal dystrophy, ataxia and developmental retardation. To diagnose, the findings of electroretinography and visual evoked potential study can be useful and hypoplasia of cerebellar vermis in brain MRI can make certain diagnosis. We found ocular motor apraxia without head thrusts in 4-month little baby can't even control his head and neck, and then his electroretinography and visual evoked potential study was normal and there was agenesis of cerebellar vermis by MRI finding. So he was diagnosed as Joubert syndrome with ocular motor apraxia. Agenesis of cerebellar vermis is considered to be one of the causes of oculomotor apraxia, and the clinical presentation varies with the age and motor development of the child. So, we describe this case with a brief review of the literatures related to this disease.