EXTENSIVE NEUROFIBROMATOSIS TYPE 1 WITH MULTIPLE CUTANEOUS NEUROFIBROMAS, LUMBOSACRAL MENINGOCELES, VERTEBRAL DYSPLASIA AND INCIDENTAL CEREBRAL FINDINGS IN A MIDDLE-AGED MALE: A RADIOLOGICAL CASE REPORT

Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurocutaneous disorder characterized by multisystem involvement, including cutaneous neurofibromas, skeletal dysplasia, and central and peripheral nervous system abnormalities. Extensive spinal meningoceles associated with vertebral dysplasia are uncommon manifestations and are frequently detected incidentally during imaging. We report a rare case of a 52-year-old male with a history of post-polio paralysis since childhood who presented with intermittent headache of two months' duration. Clinical examination revealed multiple painless cutaneous neurofibromas involving the scalp, trunk, back, gluteal region, and extremities. Magnetic resonance imaging (MRI) of the brain and whole spine demonstrated multiple subcutaneous neurofibromas, a large multiloculated lumbosacral meningocele measuring approximately 11.2 × 7.8 cm, vertebral dysplasia involving the lower lumbar and sacral vertebrae, posterior vertebral scalloping, widened sacral neural foramina, and dural ectasia. Mild cerebral atrophic changes, cervical spondylotic changes, and incidental inflammatory changes within the paranasal sinuses were also identified, without evidence of intracranial neoplasm or optic pathway glioma. Computed tomography (CT) further confirmed extensive dysplastic remodeling of the lower lumbar and sacral vertebrae, posterior vertebral scalloping, widened sacral foramina, and anterior as well as posterior sacral meningoceles, providing superior characterization of the associated osseous abnormalities. The constellation of clinical and radiological findings was diagnostic of Neurofibromatosis Type 1. This case highlights the broad radiological spectrum of adult NF1 and underscores the complementary roles of MRI in delineating neural and soft-tissue involvement and CT in characterizing skeletal abnormalities. Recognition of these characteristic imaging findings is essential for establishing the diagnosis, assessing disease burden, guiding multidisciplinary management, and ensuring appropriate long-term surveillance. This case further contributes to the limited literature describing extensive lumbosacral meningoceles with vertebral dysplasia in adults with Neurofibromatosis Type 1.