Shamsudheen M P, Das Uttara, Taduri Gangadhar, Guditi Swarnalatha, Karthik Raja, Thakur Rajani
Department of Nephrology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India.
Department of Radiodiagnosis, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India.
Indian J Nephrol. 2021 Jan-Feb;31(1):61-63. doi: 10.4103/ijn.IJN_287_19. Epub 2021 Jan 27.
Joubert syndrome is a genetically heterogeneous disorder that belongs to the group of cerebello-oculo-renal syndromes. It is characterised by neurodevelopmental abnormalities and complex midbrain-hindbrain malformation, visible on brain imaging as a molar tooth sign. It is classified as a ciliopathy and has variable renal involvement. Herein, we report a case of a 9-year-old boy with developmental delay, presented as chronic kidney disease and evaluation showed features of Joubert syndrome. Recognition of specific clinical and radiological findings will help in early diagnosis and appropriate care.
乔伯特综合征是一种基因异质性疾病，属于小脑-眼-肾综合征组。其特征为神经发育异常和中脑-后脑复杂畸形，在脑部成像中表现为磨牙征。它被归类为纤毛病，肾脏受累情况各异。在此，我们报告一例9岁发育迟缓男孩，表现为慢性肾脏病，评估显示具有乔伯特综合征的特征。识别特定的临床和影像学表现将有助于早期诊断和恰当治疗。
