J Korean Soc Pediatr Nephrol.  2002 Oct;6(2):266-273.

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

• Kim JH
• Shin HK
• Yoo KH
• Hong YS
• Lee JW
• Kim SK

Abstract

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.

Keyword

Joubert syndrome; Agenesis of cerebellar vermis; Nephrocalcinosis

MeSH Terms

Eye Movements
Humans
Kidney Failure, Chronic
Male
Muscle Hypotonia
Nephrocalcinosis*
Neurologic Manifestations
Retinal Dystrophies
Tachypnea