書誌事項
- タイトル別名
-
- A case of Joubert syndrome with abnormal eye-movement
この論文をさがす
抄録
Joubert syndrome is a rare autosomal recessive disorder characterized by a specific congenital malformation of the cerebellar vermis. Diagnostic criteria for it include hypotonia, ataxia, episodic hyperpnoea, psychomotor delay, abnormal eye-movement, and the molar tooth sign on magnetic resonance imaging (MRI). We present a 12-month-old boy with Joubert syndrome referred to our hospital because of vertigo. On equilibrium examination, he exhibited left-beating gaze nystagmus, and right-beating horizontal nystagmus, up-beating nystagmus, and alternating nystagmus with a torsional component on positional nystagmus examination. Saccades were preceded by slow eye movement ending with a glissade, and were followed by postsaccadic drift. His smooth pursuit to the left was saccadic, and optokinetic nystagmus gains were reduced. Three months later, his symptoms gradually resolved, his gaze nystagmus nearly disappeared, and only right-beating nystagmus on positional examination was detected.
収録刊行物
-
- Equilibrium Research
-
Equilibrium Research 70 (1), 23-29, 2011
一般社団法人 日本めまい平衡医学会
- Tweet
詳細情報 詳細情報について
-
- CRID
- 1390001204948990592
-
- NII論文ID
- 10029512166
-
- NII書誌ID
- AN00001485
-
- ISSN
- 1882577X
- 03855716
-
- 本文言語コード
- ja
-
- データソース種別
-
- JaLC
- Crossref
- CiNii Articles
-
- 抄録ライセンスフラグ
- 使用不可