Relapsing Tumefactive Demyelination: A Case Report

Abstract

<p><strong>Objective. </strong>We present a case of relapsing tumefactive demyelination in a young female patient, that posed a real diagnostic challenge, with a heterogeneous clinical picture, atypical for multiple sclerosis (MS) presentation, and neuroradiological manifestations with a high suspicion of neoplastic diseases.</p><p><strong>Case Report</strong>. An 18-year old female patient presented to our Neurosurgical Out-patients’ Clinic with symptoms atypical for multiple sclerosis, unremarkable neurological deficit, one tumefactive lesion on MRI, followed by relapse and another two lesions within a period of six months. We decided to perform biopsy of the tumefactive lesion with compressive effect. Serological and clinical data were negative for MS, and the patient did not respond well to corticosteroid therapy. Fresh frozen tumor tissue aroused a strong suspicion of gemistocytic astrocytoma, so total resection was done, but the definitive pathohistological examination confirmed tumefactive demyelination.</p><p><strong>Conclusion</strong>. For clinicians, it is important to consider demyelinating disease in the differential diagnosis of a tumorlike lesion of the central nervous system, in order to avoid invasive and potentially harmful diagnostic procedures, especially in younger patients.</p>

Two patients with cerebral lesions: is it tumor or multiple sclerosis? Illustrative cases

“… 2–4 , 7 The median age at onset is 37 years, usually arising in the second or third decade of life. 2 , 4 MS mostly affects young women, but female predominance in tumefactive cases is yet not proved. 2 , 4 , 7 , 8 …”

“… 2 , 4 MS mostly affects young women, but female predominance in tumefactive cases is yet not proved. 2 , 4 , 7 , 8 …”

“…Being a young woman in the fourth decade of life, the first patient fulfills the epidemiological criteria of a typical patient with MS. 2 , 4 , 7 , 8 The fact that the patient reported an earlier event with right motor weakness 3 years ago raises the question whether the patient had MS before. Hence, the tumefactive lesion may not have been the initial event.…”

“…The clinical presentation of patients with tumefactive lesions is atypical in comparison with that of patients with typical MS. 4 , 7 , 8 , 11 Although patients with typical MS initially present with symptoms such as sensory or motor deficits, hemiparesis or optic neuritis, tumefactive forms can lead to headache, cognitive impairment, speech deficits, cerebellar symptoms, and even seizures. 2–4 , 7–9 , 11 …”

Clinico-radiologic features and therapeutic strategies in tumefactive demyelination: a retrospective analysis of 50 consecutive cases

“…Recurrent TDL represents a clinical/radiological syndrome that has not been thoroughly described before due to the limited numbers of cases. 18 , 22 , 27 – 30 It is unclear whether such cases belong to a separate subset of demyelinating diseases of the CNS or represent a variant of MS. Further clinical evidence on natural history and optimal treatment is warranted. Herein, we present for the first time in the literature 12 patients with recurrent TDL and try to identify any distinct features of this disease entity.…”