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An unusual case of neurofibromatosis: cystic bone lesions and coarctation of the aortic arch

University College Hospital, Gower Street, London, WC1

This excerpt was created in the absence of an abstract.

We describe a case of neurofibromatosis with coarctation of the thoracic aorta and multiple cystic bone lesions.

A 15-year-old Caucasian girl was referred to University College Hospital following a fracture through a translucent lesion in her upper left fibula. Her mother was known to have neurofibromatosis and her brother had multiple cafe-au-lait spots. Her father was normal.

The patient was normally developed and had many cafe-au-lait spots and neurofibromata. A harsh late systolic murmur was present and radiated down the back of the spine. Her blood pressure was normal. Coarctation of the aorta just distal to the left subclavian artery was confirmed at aortography and was subsequently resected. The ductus was not patent.

There were multiple lesions (Figs. 1 and 2) at the ends of the shafts of the distal femora and tibiae and in the proximal tibiae and fibulae. They were expanded and translucent, appeared loculated and had well-defined, sclerotic margins. A fracture line was still visible through the lesion in the proximal left fibula.

The lesion in the right fibular head was biopsied. Histological examination (Fig. 3) showed cellular fibrous tissue with scattered giant cells, iron pigment and minimal new bone formation. These features were consistent with a non-ossifying fibroma or a brown tumour of hyperparathyroidism. Normal biochemistry excluded the latter and a diagnosis of non-ossifying fibroma was made. There was no neurofibromatous tissue.

Received for publication October 1, 1980.