Yerdelen Deniz, Koç Filiz, Koç Zafer
Department of Neurology, Baskent University Medical School, Adana,Turkey.
Acta Neurol Belg. 2009 Mar;109(1):49-52.
Joubert syndrome (JS) is an inherited disorder characterized by transient episodic hyperpnea, ataxia, and vermian hypoplasia. Typical imaging findings of JS include hypoplasia or aplasia of the cerebellar vermis, thick and elongated superior cerebellarpeduncles and an abnormally deep interpeduncular fossa with 'molar tooth sign'. We present a case of JS associated with deep cerebral sulci and fissures, polymicrogyria, and additional findings of posterior reversible encephalopathy syndrome associated with renal involvement.
乔伯特综合征（JS）是一种遗传性疾病，其特征为短暂性发作性呼吸急促、共济失调和小脑蚓部发育不全。JS的典型影像学表现包括小脑蚓部发育不全或缺失、小脑上脚增厚和延长以及脚间窝异常加深伴“磨牙征”。我们报告一例JS病例，该病例伴有大脑深沟和裂、多小脑回，以及与肾脏受累相关的后部可逆性脑病综合征的其他表现。
