Van Buchem's disease with classical radiological features and appearances on cranial computed tomography

Van Buchem's disease is a rare hereditary sclerosing dysplasia of bone which was first described by van Buchem, Hadders and Ubbens in the Netherlands in 1955. Their original description was of an autosomal recessive disease which particularly affects the skull, mandible and long bones, the characteristic feature of the latter being the endosteal deposition of bone, particularly in the diaphyses. We present a patient who has the classical recessive form of the disease and has developed auditory and visual symptoms due to encroachment on cranial foramina by hyperostotic bone. The appearances on computed tomography (CT) are described. This patient had an unusual appearance at birth. Her birth weight was below the 10th centile for her gestational age and she was noted to have a prominent forehead, a long anteverted upper lip and coarse wrinkling of the skin. She was born of unrelated parents after a full-term, normal delivery and pregnancy and there was no family history of any congenital diseases. Growth and development progressed normally but a year later she developed a mild chest infection during which she had a chest radiograph which showed sclerosis of the clavicles, ribs and spines of the scapulae. A diagnosis of a sclerosing bone dysplasia was made and a later skeletal survey showed classical features of van Buchem's disease (Figs 1,2,3). Allied investigations were normal apart from a raised alkaline phosphatase of 820 i.u./l. She had a normal female karyotype.