Severe renal osteodystrophy in a pediatric patient with end-stage renal disease: Sagliker syndrome?

Renal osteodystrophy (ROD) is a multifactorial disorder of bone metabolism in chronic kidney disease (CKD). As CKD progresses, ensuing abnormalities in vitamin D metabolism and parathyroid hormone (PTH) secretion result in distortions in trabecular microarchitecture, thinning of the cortical shell, and increased cortical porosity. The recently described Sagliker syndrome (SS) might be an exaggerated version of ROD and is a very striking and prominent feature of secondary hyperparathyroidism in patients with end-stage renal disease (ESRD). It includes a distorted facial appearance, short stature, extremely severe maxillary and mandibulary changes, soft tissue tumors in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurologic and psychological problems. We herein describe an affected 14-year-old girl with severe ROD resulting from ESRD, who had severe peripheral and central neurologic problems caused by bone deformities, mimicking the features of Sagliker syndrome.