A Case of Joubert Syndrome Associated with Nephrocalcinosis and Agenesis of Cerebellar Vermis.
- Author:
Ji Hee KIM
1
;
Hye Kyung SHIN
;
Kee Hwan YOO
;
Young Sook HONG
;
Joo Won LEE
;
Soon Kyum KIM
Author Information
1. Department of Pediatrics, Korea University College of Medicine Seoul, Korea. guroped@korea.ac.kr
- Publication Type:Case Report
- Keywords:
Joubert syndrome;
Agenesis of cerebellar vermis;
Nephrocalcinosis
- MeSH:
Eye Movements;
Humans;
Kidney Failure, Chronic;
Male;
Muscle Hypotonia;
Nephrocalcinosis*;
Neurologic Manifestations;
Retinal Dystrophies;
Tachypnea
- From:Journal of the Korean Society of Pediatric Nephrology
2002;6(2):266-273
- CountryRepublic of Korea
- Language:Korean
-
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.
