Tumefactive demyelinating lesion – a rare manifestation of multiple sclerosis in childhood

Three to five percent of patients diagnosed with multiple sclerosis (MS) are children under the age of 16 years. The so called „tumefactive lesion“ as manifestation of encephalomyelitis disseminata occurs infrequently in adults and is a rarity in pediatric patients. We report about a 15-year-old girl with a tumefactive demyelinating lesion as early presentation of multiple sclerosis.

Hemihypesthesia, ataxia and increased muscular reflexes were initial symptoms. Diagnostic examinations revealed oligoclonal bands, increased intrathecal synthesis rate, delayed evoked potentials and multiple nodular white matter-plaques suspicious for MS.

Three weeks after therapy with regression of symptoms she presented with signs of intracranial pressure (severe frontal headache, vomiting, meningism). Cerebral MRI showed a broad signal enhancement of >25mm in the right fronto-parieto-temporal periventricular region with perifocal edema, midline shift and extension into the capsula interna and opticus tract revealing tumefactive MS. The preexisting lesions remained unchanged.

The differenzial diagnoses such as CNS tumors (e.g. glioma), disseminated lymphoma, CNS-infections, ADEM, leucodystrophia or cerebral vasculitis were rather unlikely and excluded due to absent further clinical/laboratory signs. On the basis of McDonald criteria diagnosis was confirmed after the second MS episode. Another Methylprednisolon pulse therapy led to a slow regression of neurological symptoms. Control imaging 6 weeks later revealed nearly complete remission of the tumefactive lesion.

Conclusion: Manifestation of tumefactive MS in childhood is a rarity. Clinical and radiological presentation as lesion with mass effect is a diagnostic challenge. A uniform definition of those lesions and data concerning their incidence and course are lacking. Our patient showed good response to methylprednisolon therapy – long term prognosis however remains unclear.