Description

A 12-year-old boy with neurofibromatosis type 1 (NF-1) presented with a giant mass involving the posterior head and neck. The mass was present since 6 months of age and showed considerable growth over the past 2 years that caused extensive disfigurement that was deemed inoperable due to its size prior to immigration to USA. Physical examination revealed neurocutaneous findings consistent with NF-1. Neurological examination including mental status, cranial nerves, motor, sensory, reflex, coordination and gait examination was normal. MRI revealed a giant mass of the right scalp, neck, chest wall, axilla and mediastinum (figure 1). The mass had both extradural and intradural components that caused significant compression of the cervical spinal cord. MRI of the brain revealed minimal abnormalities associated with myelin vacuolisation of the globus pallidus and thalami. A subtotal resection was performed to relieve cord compression and pathology was consistent with a plexiform neurofibroma. Postoperatively, the patient had minor right arm weakness that resolved during the 4 month follow-up. Plexiform neurofibromas are commonly associated with NF-1 and routine MRI spine screening is controversial in asymptomatic patients.1 However, plexiform neurofibromas can be associated with symptomatic spinal cord compression.2 Our case highlights the invasive potential of plexiform neurofibromas in children diagnosed with NF-1.

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Figure 1

Post gadolinium T1-weighted MRI axial sequence on the left reveals the giant enhancing plexiform neurofibroma with the associated compression of the cervical spinal cord. The axial T2 MRI on the right demonstrates the extradural invasion of the tumour through the neuroforamina leading to significant cord compression (red arrowhead).