| CASE REPORT |
|
| Year : 2021 | Volume
: 31
| Issue : 1 | Page : 61-63 |
A Case of Joubert Syndrome with Chronic Kidney Disease
MP Shamsudheen1, Uttara Das1, Gangadhar Taduri1, Swarnalatha Guditi1, Raja Karthik1, Rajani Thakur2
1 Department of Nephrology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India
2 Department of Radiodiagnosis, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India
Correspondence Address:
Dr. Uttara Das
Additional Professor in Nephrology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad - 500 082, Telangana
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijn.IJN_287_19
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.
[FULL TEXT] [PDF]*
|
|
Editorial Board
