Progressive cervicothoracic meningocele with neurovascular compression and spinal deformity in neurofibromatosis type 1: a decade-long radiological and clinical evolution with operative repair. Illustrative case.

BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem neurocutaneous disorder associated with skeletal dysplasia, dural ectasia, and, less commonly, spinal meningoceles. Although these lesions are often asymptomatic, they may progressively enlarge over time, resulting in spinal deformity and compression of adjacent neurovascular and aerodigestive structures. Cervical and cervicothoracic meningoceles are particularly rare and pose unique diagnostic and management challenges.

OBSERVATIONS: A 43-year-old woman with NF1 presented with progressive gait imbalance and left upper limb dysesthesia and weakness more than 1 decade after initial diagnosis of a right-sided cervical meningocele that had been managed conservatively. Serial imaging over 11 years demonstrated gradual enlargement of a cervicothoracic lateral meningocele, ultimately measuring more than 10 cm, with associated severe kyphoscoliosis, vertebral scalloping, foraminal widening, spinal cord deviation, and displacement of the vertebral and carotid arteries, as well as anterior compression of the esophagus and airway. Neurological deficits correlated with foraminal compression at the C5-T1 levels. Brain MRI additionally revealed bilateral optic pathway gliomas, suggesting a more extensive NF1 phenotype. Given progressive neurological decline and neurovascular compromise, surgical repair of the anterior cervical meningocele was performed, resulting in marked postoperative radiological improvement and relief of mass effect.

LESSONS: Spinal meningoceles associated with NF1 may follow an indolent but progressive course over many years, emphasizing the necessity of long-term clinical and radiological surveillance even in initially asymptomatic patients. Cervical involvement, although uncommon, can lead to significant spinal deformity and neurovascular compression. Early recognition of clinical deterioration should prompt timely surgical reassessment. Multidisciplinary management is essential in patients with complex NF1 manifestations, particularly when spinal pathology coexists with other CNS tumors. https://thejns.org/doi/10.3171/CASE26112.