A multidisciplinary approach in the management of a patient with familial von Recklinghausen’s disease: A case report and review of literature

Abstract

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease (VRD), is an autosomal dominant genetic disorder caused by gene mutations located on chromosome 17. Of these, 90% are point mutations, and the rest have larger deletions, affecting nearly one in every 3500 births. The same gene is responsible for the synthesis of a protein known as neurofibromin, which helps in the regulation of normal cell growth. This disorder is characterized by the development of swellings all over the body along the distribution of nerves, skin changes, visual abnormalities, and bony deformities in some individuals. In addition to this, it is also a neoplastic predisposition syndrome that is associated with both benign and malignant tumors of the brain and spinal cord. In 20% of the cases with NF1, it is associated with gliomagenesis, which often affects the optic pathway and brain stem. In the early phases, it is associated with benign gliomas, whereas in the later stages, it is associated with malignant gliomas. But nevertheless, high-grade gliosarcomas (grade IV) of the brain are rare entities with reported higher risks in both children and adults. We report a case of familial NF1 (VRD) in a patient with an associated high-grade right parieto-temporo-occipital lobe glioma. Surgical excision via gross total resection is the mainstay of treatment. However, a multidisciplinary approach is also vital. This is described here, whereby timely intervention from neurology, ophthalmology, radiology, orthopedics, neurosurgery, and radiotherapy led to the successful management of the patient.

Keywords

• familial disease; gross total resection (gtr); neurofibromatosis 1 (nf1); neurofibromin; von recklinghausen disease