Published online June 15, 1997.
A Case of Joubert Syndrome
Hye-Young Kim, Sun-Jun Kim, Jung-Soo Kim
Department of Pediatrics, Chonbuk National University Medical School Chonju, Chonbuk, Korea
Joubert 증후군 1례
김혜영, 김선준, 김정수
전북대학교 의과대학 소아과학교실
Abstract
Joubert syndrome is frequently associated with developmental delay and mental retardation, neonatal tachypnea and apnea, abnormal eye movements, and ataxia. It is inherited by an autosomal recessive trait. The most significant and constant neuropathological finding is partial or total agenesis of cerebellar vermis. Absence of the vermis results in a triangular-shaped mid-fourth ventricle and a "bat-wing" shaped fourth ventricle superiorly. The superior cerebellar peduncles are nearly horizontal. Retinal dystrophy, ocular motility disorders, and polydactyly may also occur. Symptoms may occur during the neonatal period and prognosis is grave. We report a typical case of Joubert syndrome in a 5 months-old female with developmental delay, tachypnea and intermittent apnea, abnormal eye movements, axial ataxia, and agenesis of the cerebellar vermis on brain MRI and SPECT and a brief review of related literature are also contained.
Key Words: and polydactyly may also occur. Symptoms may occur during the neonatal period and prognosis is grave. We report a typical case of Joubert syndrome in a 5 months-old female with developmental delay


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