Sagliker Syndrome: A Diagnostic Challenge

Abstract

Sagliker syndrome (SS), commonly referred to as “Uglifying human face Syndrome,” is a rare but serious outcome of chronic kidney disease characterized by skeletal deformities, especially in the skull and jaws, due to uncontrolled secondary hyperparathyroidism (SHPT). The diagnosis is made through a combination of clinical symptoms, radiographic evidence (demonstrating bone deformities), and laboratory evaluations. Timely and effective treatment of SHPT is essential to prevent or lessen the onset of SS. Treatment includes managing phosphorus levels (through dietary changes, phosphate binders, and dialysis), correcting Vitamin D deficiency, and performing parathyroid surgery. A 23-year-old male from a semi-urban area came to our department with huge facial deformity. Following the hematological test, we discovered markedly elevated levels of parathyroid hormone, elevated alkaline phosphatase, and markedly elevated levels of urea and creatinine. In addition, the serum calcium level was also increased. The patient was referred to a higher center for consultation regarding endocrinal evaluation and further treatment plans.