Sagliker syndrome

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.

Epidemiology

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

Clinical presentation

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

• dental abnormalities

• prognathism

• maxillary protrusion

• nasal bone deformity

• hearing loss

• short stature

• fingertip malformations

Pathology

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.

Radiographic features

Plain radiograph

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

Ultrasound

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

CT

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.

Treatment and prognosis

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.

History and etymology

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.

See also

• renal osteodystrophy