Al-Smair Ali, Younes Sara, Saadeh Osama, Saadeh Ahmad, Al-Ali Ahmad
Department of Radiology, Medray International Radiology Center, Amman, JOR.
Faculty of Medicine, The University of Jordan, Amman, JOR.
Cureus. 2022 Apr 18;14(4):e24226. doi: 10.7759/cureus.24226. eCollection 2022 Apr.
Joubert syndrome (JS) is a rare autosomal recessive disease affecting the cilium, an intracellular organelle. It has a wide spectrum of presentations with the involvement of multiple genes. JS has multiple subtypes that are either pure JS or JS with other organ involvement such as the kidneys, liver, and others. However, all subtypes share the involvement of the cerebellar peduncles and the brainstem, which presents as "a molar tooth sign" on magnetic resonance imaging, hypotonia, and intellectual disability. It has a higher prevalence among children with few able to survive to adulthood. Unfortunately, survivors live with debilitating comorbidities. Here, we present the case of a 20-year-old patient who presented with a new onset of dysphagia that led to a diagnosis of JS.
乔伯特综合征（JS）是一种罕见的常染色体隐性疾病，会影响细胞内细胞器纤毛。它有广泛的临床表现，涉及多个基因。JS有多种亚型，包括单纯性JS或伴有肾脏、肝脏等其他器官受累的JS。然而，所有亚型都有小脑脚和脑干受累，在磁共振成像上表现为“磨牙征”、肌张力减退和智力残疾。它在儿童中的患病率较高，很少有人能活到成年。不幸的是，幸存者伴有使人衰弱的合并症。在此，我们报告一例20岁患者，该患者因新发吞咽困难而被诊断为JS。
