Neurofibromatosis type 2 with multisystem involvement and progressive neurological sequelae: a case report of a 26-year-old patient

Abstract

Case Presentation: A 26-year-old woman diagnosed with neurofibromatosis type 2 (NF2) at the age of 17 presented with progressive neurological impairment and multisystem involvement. Initial manifestations included bilateral vestibular schwannomas associated with hearing loss. Over time, she underwent multiple surgical interventions, including craniotomies for intracranial tumor resection, partial gastrectomy due to gastrointestinal neurofibromas, and spinal surgery for lumbosacral tumors. One year after the first craniotomy, she developed epileptic seizures accompanied by vomiting, ataxia, nystagmus, and headache. Neuroimaging demonstrated progression of cerebellar lesions and supratentorial hydrocephalus. Anticonvulsant therapy resulted in partial seizure control. The clinical course was further complicated by hepatic dysfunction and the presence of a hepatic cyst. At 24 years of age, she required additional neurosurgical intervention and subsequently developed a neurogenic bladder, with urinary retention and recurrent urinary tract infections. Discussion: NF2 is a rare autosomal dominant condition caused by mutations in the NF2 tumor suppressor gene, typically presenting with bilateral vestibular schwannomas. This case illustrates the high morbidity associated with the "Wishart phenotype," characterized by early onset and multiple non-vestibular tumors. The presence of gastric neurofibromas is an atypical and noteworthy systemic manifestation. The clinical management of such patients is complex, as the surgical benefit must be weighed against the risk of cumulative neurological sequelae, such as the neurogenic bladder and functional impairment observed here. While surgery remains the primary intervention for symptomatic lesions, the progression of this case underscores the need for exploring systemic therapies. Modern approaches, including vascular endothelial growth factor inhibitors (such as bevacizumab) and stereotactic radiosurgery, are crucial considerations for unresectable or rapidly progressing tumors to preserve quality of life and delay functional decline. Final Comments: This report highlights that NF2 is a progressive multisystemic disease that extends beyond the vestibular nerves. Early diagnosis and a proactive multidisciplinary approach are vital to managing complications such as epilepsy and visceral involvement. Continuous clinical surveillance and the integration of new pharmacological therapies are essential to mitigate the significant functional impact and improve the long-term prognosis of young patients affected by this condition.