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

Kim, Ji-Hee; Shin, Hye-Kyung; Hong, Young-Sook; Lee, Joo-Won; Kim, Soon-Kyum; Yoo, Kee-Hwan

J Korean Soc Pediatr Nephrol > Volume 6(2); 2002 > Article

J Korean Soc Pediatr Nephrol 2002;6(2): 266-271.

신석회화와 소뇌 충부의 무형성을 동반한 Joubert 증후군 1례

김지희, 신혜경, 홍영숙, 이주원, 김순겸, 유기환

¹고려대학교 의과대학 소아과학 교실
²고려대학교 의과대학 소아과학 교실
³고려대학교 의과대학 소아과학 교실
⁴고려대학교 의과대학 소아과학 교실
⁵고려대학교 의과대학 소아과학 교실
⁶고려대학교 의과대학 소아과학 교실

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

Ji-Hee Kim, Hye-Kyung Shin, Young-Sook Hong, Joo-Won Lee, Soon-Kyum Kim, Kee-Hwan Yoo

¹Department of Pediatrics, Korea University College of Medicine Seoul
²Department of Pediatrics, Korea University College of Medicine Seoul
³Department of Pediatrics, Korea University College of Medicine Seoul
⁴Department of Pediatrics, Korea University College of Medicine Seoul
⁵Department of Pediatrics, Korea University College of Medicine Seoul
⁶Department of Pediatrics, Korea University College of Medicine Seoul

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.

Key words: Joubert syndrome | Agenesis of cerebellar vermis | Nephrocalcinosis