Sagliker syndrome

Last revised by Henry Knipe on 16 Dec 2023

Sagliker syndrome is an uncommon bone condition, possibly a severe phenotype of renal osteodystrophy, marked by secondary hyperparathyroidism in patients suffering from chronic kidney disease associated with skull and facial deformities 1-4.

Sagliker syndrome is a rare condition mostly seen in young women within the 3rd and 4th decades 2.

A variety of clinical manifestations may be present 1-4:

The condition is the result of inadequately treated secondary hyperparathyroidism leading to phosphorus retention, relative vitamin D deficiency and impaired calcium-phosphorus metabolism - all of which increase parathyroid hormone levels and renal osteodystrophy 1.

X-ray findings may show manifestations of hyperparathyroidism such as Rugger jersey spine, brown tumor and short stature ref.

A neck ultrasound may show extrathyroidal lesions posterior to the thyroid lobes, suggesting a parathyroid adenoma ref.

Cranial CT scan may show manifestations of hyperparathyroidism such as the salt and pepper sign and ground-glass appearance, as well as other deformities such as frontal protrusion and deformities/expansion of both the maxilla and the mandible. The lack of normal architecture and noticeable expansion of both bones result in the teeth moving into an abnormal configuration. A distinct overgrowth of the maxillofacial bones and facial swelling, with increased density of the bone with ground glass appearance ref.

Management is the treatment of secondary hyperparathyroidism and of underlying chronic kidney disease. Treatment of secondary hyperparthyroidism may include low phosphate diet, phosphate binders, and activated vitamin D ref.

The association of skull deformities in patients with secondary hyperparathyroidism due to chronic kidney disease, was described by J Cohen and I Diamond in 1953 as leontiasis ossea. This syndrome was then described in detail and named by the Turkish nephrologist Yahya Sagliker et al in 2004 1-4.

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