Occipital bone defect caused by neurofibromatosis type I: A case report

Abstract

Rationale: The synergistic effect between nonmalignant lesions can also cause a serious impact on patient survival. This disease involves different organ systems and presents with a variety of clinical manifestations, such as schwannoma, depigmentation, low-grade glioma, and skeletal abnormalities. We report a case of type I neurofibromatosis with an occipital bone defect. Patient concerns: We report a case of a 50-year-old man with type I neurofibromatosis with occipital bone defect. Diagnosis: The patient was accepted by the local hospital due to sudden right upper limb weakness accompanied by jitter without recognizable cause or inducement. A computerized tomography scan at a local hospital suggested subcutaneous neurofibromatosis with a left occipital cranial defect with thinning bone. On admission physical examination, diffuse multiple masses could be seen throughout the body and head of different sizes and composed of soft and tough textures. The largest one was located in the posterior occipital bone, approximately 8*8 cm in size, with a child tumor and tough texture. Multiple café-au-lait spots could be found on the chest and back, and multiple freckles can be seen in the armpit. The patient underwent surgery. Postoperative pathology showed a spindle cell tumor, which was determined to be neurofibromatosis type I according to immunopathology and clinical data. Interventions: The patient was admitted for surgical treatment. During the operation, the scalp mass was completely abducted and the tumor tissue at the skull defect was sharply separated. Postoperative pathology showed that the peripheral margin and the bottom margin were cleaned. Outcomes: Computerized tomography and magnetic resonance imaging showed that the tumor was completely. There were not any surgical complications. The patient recovered well, was cured and was dismissed from the hospital. Lessons: The synergistic effect between nonmalignant lesions can also cause a serious impact on patient survival to encourage early medical intervention. The clinical presentation of neurofibromatosis type I am usually nonmalignant, and in this case, involvement of the skull with bone defect is very rare. Therefore, it is necessary to accumulate relevant cases, reveal the pathogenesis of the disease, predict the development and outcome, and provide more evidence for early therapeutic intervention of similar patients in the future.