Category: Neuroradiology, Region: Upper extremity-Nerves, Plane: Axial
Neurofibromatosis type-1 or Von Recklinghausen disease is a multisystem neurocutaneous disorder and the most common phakomatosis. One of the main characteristics of this disease is systemic and progressive involvement with impaired neurological functions. It is characterised by predominantly neurocutaneous features such as cafe-au-lait spots, axillary freckling, skeletal dysplasias, benign and malignant neurofibromas. We report a case of an 18 yrs old male patient who came to department of radiodiagnosis for imaging evaluation of nodular lesions on both upper limbs and lower limbs associated with sensory and motor weakness. Imaging findings revealed multiple cutaneous and subcutaneous neurofibromas involving peripheral and autonomic nerves appearing as small soft tissue skin nodules clinically. We discuss the clinical, pathological and radiological appearances of neurofibromatosis and brief review of the available literatures in the present case report.