Sagliker Syndrome in Patient with Teritiary Hyperparthyroidism

Presentation Number: MON 325
Date of Presentation: April 3rd, 2017

Musa Shakoor1, Muhammad Abid Ulhaque2, Saleh Muharam3, Kanaan Abow Alkhier4 and Mohamad Hosam Horani*5
1University of Virgina School of Medicine, 2A.T. Still University, 3Arizona State University, 4Arizona Oncology, 5Alsham Endocrinology, Chandler, AZ

Abstract

: Chronic kidney disease (CKD) is the leading cause of secondary hyperparathyroidism (SHPT). A very rare complication of uncorrected SHPT is a condition known as Sagliker Syndrome (SS), first described by Sagliker et al. in 2004. This condition is characterized by severe facial deformity, dental abnormalities, and psychological disorders.

Case Description: The patient is a 33 year-old Caucasian male with a history of chronic kidney disease (CKD) and SHPT. Along with his worsening SHPT, the patient developed severe maxillary and mandibular deformity consistent with the rare condition known as Sagliker Syndrome. The patient then underwent a kidney transplant which failed due to rejection. Eventually the SHPT had worsened to tertiary hyperparathyroidism, and the decision to perform parathyroidectomy was made. After the parathyroidectomy, there have been no noted signs of worsening facial deformity. Two years after the parathyroidectomy, he was diagnosed with severe hypocalcemia (5.6 mg/dL) and hypoparathyroidism status post parathyroidectomy.

Discussion: Review of previous case reports indicates improper care of CKD, in particular uncontrolled SHPT, as the primary contributor to SS. In this case, it seems that uncontrolled SHPT, progressing to tertiary hyperparathyroidism, was the main impetus behind this patient’s unfortunate development of SS. This unfortunate consequence can likely be avoided by proper medical management. We propose that SS should be considered as an indication for parathyroidectomy. Parathyroidectomy cannot reverse the permanent physical deformity, however if it cures the hyperparathyroidism, then it can prevent worsening of the condition.

 

Nothing to Disclose: MS, MAU, SM, KA, MHH