Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report

This case highlights the importance of considering genetic etiologies, particularly 17q12 deletion syndrome, in children presenting with persistent hypomagnesemia and neurodevelopmental delay. Recognizing electrolyte imbalances, despite the absence of renal structural abnormalities, and identifying coexisting spinal cord anomalies, such as syringomyelia, may guide timely genetic evaluation and enable earlier diagnosis.