An unusual cause of collapse and neck pain

Abstract

Following a collapse at home, a previously well 24-year-old Ukrainian man living in Ireland was brought to the emergency department. He complained of neck pain and cervical spine radiographs revealed loss of lordosis, scalloping of the posterior vertebral bodies and widening of the neural exit foramina at C7. In view of these unusual radiological findings, further examination of the patient demonstrated multiple flat uniformly hyperpigmented brown macules with multiple subcutaneous well-circumscribed lesions along the distribution of the peripheral nerves. An MRI scan of the neck revealed multiple neurofibromas in the vertebral canal with cord compression at C7–T1. A diagnosis of neurofibromatosis type 1 was made. Other investigations to determine the aetiology of the collapse were normal and the patient was discharged with follow-up at specialist neurology and neurosurgical clinics. In recent years there have been increased numbers of economic migrants presenting to the emergency department in the UK and Ireland from European Union accession states. This case highlights the need for increased awareness among emergency physicians to previously undiagnosed genetic and congenital conditions.