Unravelling the Mysteries of Childhood Polyuria and Polydipsia: A Case of Senior-Loken Syndrome

Case description: This case report emphasizes the critical importance of early evaluation after neglected or ignored symptoms of polyuria, and polydipsia, in children. We are presenting here a 12-year-old boy, presented with a gradual onset of progressive anorexia and full flared symptoms of advanced chronic kidney disease. Thorough investigations revealed End-stage kidney disease, including severe hyperparathyroidism leading to parathyroid hyperplasia and obstructive sleep apnoea. Detailed enquire revealed that the child had polyuria, and polydipsia from an early age. Nursing care plan description: Peritoneal dialysis was initiated due to the severity of the condition and the progressive decline in kidney function and finally, renal transplantation was successfully done. Polyuria, Polydipsia, oculomotor apraxia, and whole genome mutation study confirmed the diagnosis of Senior-Loken Syndrome. However, the delay in diagnosis was partly attributed to the parents' ignorance of the significance of the early symptoms, such as polydipsia, polyuria, and involuntary eye movements, during the child's early years. Evaluation and conclusion: This case highlights the critical importance of vigilant evaluation and prompt management in any child presenting with symptoms of polyuria, polydipsia, and ocular motor abnormalities. Timely detection and intervention play a crucial role in altering the course of Senior-Loken syndrome, effectively delaying the advancement towards end-stage renal disease. Primary care physicians and paediatricians should maintain a high index of suspicion for this genetic kidney disorder in children with such symptoms, as early diagnosis can lead to enhanced results and a higher quality of life for individuals who are affected. Keywords: Chronic kidney disease, Parathyroid hyperplasia, Obstructive sleep apnoea, Senior-Loken Syndrome, Polydipsia and polyuria in children, Nephronophthisis