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In a 35 year-old female diaphyseal hyperostosis of femur and tibia indicative of a Camurati-Engelmann syndrome (progressive diaphyseal dysplasia) were discovered during routine phlebography. This rare disorder belongs to the group of osteochondrodysplasias and affects primarily the diaphyses of long bones. Sporadic as well as familial cases have been observed. Although the cause and pathogenetic mechanism of the disease are unknown, an autosomal dominant inheritance is being discussed. Diagnosis was based on radiological findings, which are presented along with the scintigraphic appearance of the disease.

In Camurati-Engelmann disease HR-CT can impressively demonstrate the involvement of the skull base and also correlate well with the clinical symptoms of deafness, vestibular disturbances and facial paralysis. Since conservative treatment with corticosteroids, calcitonin and diphosphonates is hardly successful and compression of the cranial nerves practically absent, surgical treatment with decompression should be considered. Differential diagnosis against other bone affections with deafness depends on age, typical x-ray findings, local distribution and clinical signs.

Nine cases in three families with diaphyseal dysplasia are reported. In one family diaphyseal dysplasia and neurofibromatosis are combined. A lymphatic leucosis was found in one case. The possible autosomal recessive mode of inheritance in one family refer to heterogeneity in diaphyseal dysplasia.

Radiological changes in the skeleton had been present for 30 years in a now 42-year-old man with diaphyseal dysplasia (Camurati-Engelmann syndrome). Because of threatened blindness by bony narrowing of the optic canal prednisolone was administered over several years. Biochemical, calcium-kinetic and ophthalmological studies demonstrated a favourable effect of this treatment.

Camurati-Engelmann disease is a rare progressive bone dysplasia; involvement of the skull base can lead to deafness, vestibular disturbances, facial paralysis and damage to the optic nerves. Treatment with corticosteroids, calcitonin and diphosphonates promises only very limited success. Conservative treatment of compression of the cranial nerves is almost ineffective, but the aim of surgical treatment is decompression of involved nerves. The differential diagnosis depends on radiological findings and clinical symptoms. Follow-up depends on radiographic examination and skeletal scintigraphy for showing the extent of the disease. CT may help in demonstrating compression of cranial nerves and define the indications for surgical decompression.

The Camurati-Engelmann disease is characterized by sclerotical hyperostosis, which can appear mainly bilaterally symmetrical at the diaphyses of the long bones, but also at all other bones of the skeleton. The Camurati-Engelmann disease is a rare one, up to now hardly more than 120 cases have been published. The rarity explains the fact that the disease is often misdiagnosed and mistaken for other bone diseases. This is a case report of a Camurati-Engelmann disease which was detected by radiological diagnosis. The problem of differential-diagnosis is described.