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Paediatric Imaging

Hyperparathyroidism, primary

a condition resulting from increased secretion of parathormone and very rare in childhood. The aetiology is unknown but cases may be sporadic, nearly always associated with a solitary adenoma, rarely with carcinoma, or familial (usually due to hyperplasia of all 4 glands). Familial cases may also be associated with the autosomal dominant multiple endocrine neoplasia (MEN) syndromes. The clinical spectrum of primary hyperparathyroidism ranges from being virtually asymptomatic to causing great morbidity and death if untreated. Symptoms include fatigue, anorexia, constipation, polyuria, polydipsia, renal stones, bone pain and pathological fractures. Diagnosis depends on the demonstration of inappropriately high parathormone levels for the hypercalcaemia on three separate occasions.

The commonest manifestation of primary hyperparathyroidism is nephrolithiasis. Radiological evidence of bone disease occurs in less than 20% of cases in children. There may be absence of lamina dura around the teeth. More specific is subperiosteal resorption of bone, especially around the radial margins of the phalanges, the sternal end of the clavicle and around the margins of other long bones. Diffuse "salt and pepper" decalcification of the skull is sometimes present. There may be diffuse demineralisation of the skeleton with cod-fish appearance of the vertebral bodies. Bone cysts (osteoblastomas) and giant cell tumours of the jaws may be presenting features.

High resolution sonography of the parathyroid gland is useful in the preoperative evaluation of patients, in the guidance of fine needle aspirates for biopsy and in the post operative evaluation of persistent or recurrent hyperparathyroidism. See multiple endocrine neoplasia (MEN)

SM