Kannauje Pankaj K, Pandit Vinay, Wasnik Preetam, Pati Saroj K, Venkatesan Nanditha
General Medicine, All India Institute of Medical Sciences, Raipur, Raipur, IND.
Radiodiagnosis, All India Institute of Medical Sciences, Raipur, Raipur, IND.
Cureus. 2022 Jul 19;14(7):e27042. doi: 10.7759/cureus.27042. eCollection 2022 Jul.
Joubert syndrome (JS) is a rare genetic disorder usually diagnosed during childhood. Adult Joubert syndrome is rare, and that too in siblings from a non-consanguineous marriage in their adulthood is extremely rare, with very few cases reported worldwide. The need for expensive imaging modality to aid diagnosis has also been cited as a drawback in diagnosing the condition in resource-poor areas. We describe the case of two adult siblings who came for other diseases and were diagnosed with Joubert syndrome.
乔伯特综合征（JS）是一种罕见的遗传性疾病，通常在儿童期被诊断出来。成人乔伯特综合征很罕见，在非近亲结婚的成年兄弟姐妹中出现更是极为罕见，全球报道的病例很少。在资源匮乏地区，需要昂贵的成像方式来辅助诊断也被认为是诊断该疾病的一个缺点。我们描述了两名成年兄弟姐妹因其他疾病前来就诊并被诊断为乔伯特综合征的病例。
