Tumefactive multiple sclerosis requiring emergent biopsy and histological investigation to confirm the diagnosis: a case report
© Yamada et al; licensee BioMed Central Ltd. 2012
Received: 4 November 2011
Accepted: 6 April 2012
Published: 6 April 2012
Tumefactive multiple sclerosis is a demyelinating disease that demonstrates tumor-like features on magnetic resonance imaging. Although diagnostic challenges without biopsy have been tried by employing radiological studies and cerebrospinal fluid examinations, histological investigation is still necessary for certain diagnosis in some complicated cases.
A 37-year-old Asian man complaining of mild left leg motor weakness visited our clinic. Magnetic resonance imaging demonstrated high-signal lesions in bilateral occipital forceps majors, the left caudate head, and the left semicentral ovale on fluid-attenuated inversion recovery and T2-weighted imaging, and these lesions were enhanced by gadolinium-dimeglumin. Tumefactive multiple sclerosis was suspected because the enhancement indistinctly extended along the corpus callosum on magnetic resonance imaging and scintigraphy showed a low malignancy of the lesions. But oligoclonal bands were not detected in cerebrospinal fluid. In a few days, his symptoms fulminantly deteriorated with mental confusion and left hemiparesis, and steroid pulse therapy was performed. In spite of the treatment, follow-up magnetic resonance imaging showed enlargement of the lesions. Therefore, emergent biopsy was performed and finally led to the diagnosis of demyelinating disease. The enhanced lesion on magnetic resonance imaging disappeared after one month of prednisolone treatment, but mild disorientation and left hemiparesis remained as sequelae.
Fulminant aggravation of the disease can cause irreversible neurological deficits. Thus, an early decision to perform a biopsy is necessary for exact diagnosis and appropriate treatment if radiological studies and cerebrospinal fluid examinations cannot rule out the possibility of brain tumors.
Tumefactive multiple sclerosis (tMS) is a demyelinating disease. Because of its tumor-like features on magnetic resonance imaging (MRI) [1, 2], histological investigation had played an important role for definite diagnosis of tMS [3, 4]. Recently, without biopsy, some tMS cases were diagnosed by magnetic resonance spectroscopy (MRS), positron emission tomography (PET), cerebrospinal fluid (CSF) examination, and response to steroid treatment [5–9]. However, the diagnosis of tMS without histological confirmation is no more than speculation in some complicated cases. We report the case of a patient who had tMS and who required emergent biopsy for exact diagnosis because of rapid enlargement of lesions on MRI after steroid pulse therapy.
The term 'tumefactive MS' is used when the clinical presentation and MRI findings are indistinguishable from those of a brain tumor . Recently, some successful challenges to diagnose tMS by using MRS and PET, without biopsy, have been reported [5–7], and careful follow-up by serial MRI with or without steroid treatment is usually sufficient to establish the diagnosis. In general, tMS lesions respond well to steroids and no radiological evidence of new lesions is identified after the treatment in most patients . Although the clinical course of tMS is various with acute onset, the prognosis of tMS usually does not depend on the clinical presentation . However, in some atypical cases, the radiological diagnosis is no more than speculative if histological diagnosis is not obtained. Butteriss and colleagues  reported an interesting case of oligodendroglioma in MS that was diagnosed by surgical removal of the lesion but that had been considered to be tMS on pre-operative MRI. In our case, fulminant deterioration of the clinical symptoms and rapid enlargement of the lesions on MRI in spite of steroid pulse therapy confounded the diagnosis of tMS. When monoclonal bands are not detected in CSF and radiological examinations cannot completely rule out a malignant brain tumor, an early decision to perform a biopsy is required. Once fulminant deterioration of clinical signs and symptoms occurs in a patient with tMS, the neurological deficits can be irreversible.
To diagnose tMS without histological investigation is an initial approach to the disease. However, early biopsy should not be delayed if radiological examination failed to confirm the diagnosis.
Written informed consent was obtained from the patient for publication of this manuscript and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
cluster of differentiation
Medical Research Council
magnetic resonance spectroscopy
magnetic resonance imaging
positron emission tomography
tumefactive multiple sclerosis.
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