## Abstract A 48βyearβold man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wideβbased, shuffling g
β¦ LIBER β¦
A case of cranial meningocele associated with Joubert syndrome
β Scribed by Takeshi Suzuki; Masashi Hakozaki; Naohiko Kubo; Kiyoshi Kuroda; Akira Ogawa
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 600 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0256-7040
No coin nor oath required. For personal study only.
β¦ Synopsis
Joubert syndrome was first reported in 1969 as a rare, recessive autosomal syndrome associated with neuropathological abnormalities of the cerebellum and brain stem, partial or complete aplasia of the cerebellar vermis, and presenting with episodic hyperpnea and apnea, oculomotor abnormalities, and psychomotor retardation. Having experienced one case of this syndrome with associated cranial meningocele, we report the clinical course, MRI features, and surgical findings, and discuss the relevant literature.
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