| A Case of Joubert Syndrome |
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Hye-Young Kim, Sun-Jun Kim, Jung-Soo Kim |
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Department of Pediatrics, Chonbuk National University Medical School Chonju, Chonbuk, Korea |
| Joubert 증후군 1례 |
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김혜영, 김선준, 김정수 |
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전북대학교 의과대학 소아과학교실 |
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| Abstract |
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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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