An unusual plexiform neurofibroma confused with a vascular malformation: a case report

ABSTRACT Introduction: Neurofibromatosis type I, or Von Recklinghausen disease, is a multisystem disorder that primarily involves the skin and nervous system. Plexiform neurofibromas are one of the most pathognomonic and often the most disabling feature of the disease; generally benign, these lesions might degenerate into neurofibrosarcoma. They grow along peripheral nerves, and can be divided, on histological and biological bases, into two different groups: nodular / mass neurofibromas and Plexiform neurofibromas (superficial and deep). Despite the unique appearance of deep plexiform neurofibroma, especially on T2-weghted MRI, cutaneous and subcutaneous forms are more difficult to diagnose. The imaging findings of the superficial forms are different from the imaging characteristics of the deeper lesions and can be confused with a low-flow vascular malformation. Case Report: We report a 2-yearold boy, with diagnosis of neurofibromatosis type I, who came to our attention with a palpable swelling on the left nuchal region exhibiting ultrasonographical characteristics of a venolymphatic malformation.