Classical diagnostic radiological features of Von Recklinghausen's neurofibromatosis in a Nigerian adult

Abstract

Neurofibromatosis type 1(NF-1, Von Recklinghausen disease or peripheral NF) is a rare autosomal dominant disorder with varied clinical manifestations involving the skin, nerves and bones. It is the most common of the neurocutaneous syndromes, with variable pathological and clinical expression. Approximately half of all cases result from spontaneous mutations of the NF1 gene. The genetic defect affects chromosome 17q12 and results in decreased production of neurofibromin. The estimated worldwide incidence is put at 1 in 3500. The diagnosis of NF-1 is usually based on the seven diagnostic criteria by the National institute of Health and the diagnosis made when there are two or more of these features. Imaging modalities like plain radiographs and Computed tomography play major roles in the diagnosis of NF-1. Knowledge of the characteristic radiologic findings, as well as their clinical significance is critical in correctly interpreting neuroimaging studies in this patient population, and appropriately guiding management decisions. The patient presented is a 29- year old female who had presented with right orbital and periorbital masses, lisch nodules, multiple scalp and body nodules, cranial bony defect and complex kyphoscoliosis. She had three of the seven classical diagnostic features of NF-1 which were confirmed on imaging.

Keywords: Classical features, Von Recklinghausen's neurofibromatosis, radiological