A 55year old man with neurofibromatosis type 1 and hypertension presented with a 1 month history of recurrent falls. Examination revealed an unsteady gait with poor co-ordination, impaired joint position sense and a positive Rombergs test, with no other abnormal neurological findings.
An MRI spine revealed an expanding intramedullary lesion T8-L1 with a differential diagnosis of an ependymoma, astrocytoma and intradural extra medullary schwannoma.
Shortly after he developed hypertonia with clonus, symmetrically brisk reflexes a left up-going plantar, lax anal tone and urinary retention, requiring catheterisation.
The finding of 1 out of 4 urine collections showing a high level of noradrenaline (1965 nmol/24 hrs, upper limit normal 560 nmol/24 hrs) lead to detailed adrenal imaging by CT (normal adrenals) and MIBG (equivocal uptake in the left adrenal gland). Adrenal venous sampling was considered but not performed because of a large left renal artery aneurysm. A laminectomy was performed under full alpha blockade with phenoxybenzamine with good clearance of tumour. Histology confirmed a low grade ependymoma.
Post-operatively tone and power returned to normal and urinary incontinence resolved. The patient completed a five week course of radiotherapy and was discharged home with community physiotherapy.
Ependymomas and Neurofibromatosis type 1
Although ependymomas are well recognised in NF 2 there are very few reported cases in NF1. One study of intramedullary spinal cord tumours associated with NF1 found a male predominance, with astrocytoma being the most common histology. A literature search revealed it to be relatively uncommon to develop spinal cord compression at this level, and the only scattered cases reported show a tendency towards cervical cord compression. In conclusion this is an unusual feature of a rare disease and highlights the importance of a multi-disciplinary approach to the management of such patients.
06 - 07 Nov 2006
Society for Endocrinology