You are here
It's not a tumor: a rare case of tumefactive multiple sclerosis
The American Journal of Emergency Medicine
Tumefactive multiple sclerosis is an extremely rare variant of multiple sclerosis, occurring in 1 per 1000 cases of MS or 3 cases per million per year. The presentation can be very similar to cerebral malignancies and difficult to diagnose without biopsy. We present an extremely rare case of tumefactive multiple sclerosis diagnosed by exam and magnetic resonance imaging (MRI) in an 18-year-old female who presented with headache, visual changes, and falls. She endorsed progressive history of astigmatism, urinary urgency with occasional incontinence, slowed mentation, and occasional falls. Physical exam revealed mild papilledema, 4/5 strength in the left upper and lower extremities. Reflexes were 3 + in the left ankle, with an up-going Babinski on the left. Cerebellar testing revealed dysdiadochokinesis. An MRI revealed 5.8cm x 2.9cm x 5.3 cm mass in the right frontal lobe with several small enhancing white matter lesions scattered throughout the left occipital lobe, cerebellum, and non-enhancing lesions in the cord at the levels of C1-3. The enhancement of these lesions in the context of her clinical picture were suggestive of a demyelination process. Based on the history, exam, and radiographic findings the diagnosis of tumefactive multiple sclerosis was made. After the second round of plasmapheresis, the patient exhibited near resolution of her symptoms. CT head obtained post-discharge revealed moderate resolution of the lesions. Although most large intracranial lesions are biopsied to obtain a final pathologic diagnosis, it has been suggested that a careful neurological exam, clinical history, and MRI may obviate the need for biopsy.
Key words: tumefactive multiple sclerosis, MRI, plasmapheresis.
Tumefactive multiple sclerosis (TMS) is an extremely rare variant of multiple sclerosis (MS), occurring in 1 per 1000 cases of MS or 3 cases per million per year.1,2The presentation can be very similar to cerebral malignancies and difficult to diagnose without biopsy. We present an extremely rare case of tumefactive multiple sclerosis diagnosed by exam and magnetic resonance imaging (MRI) in an 18-year-old female who presented with headache, visual changes, and falls.
An 18-year-old female presented to the emergency department with headache, nausea, vomiting, and frequent falls. She endorsed a four year history of frontal-temporal headaches, progressive in severity, partially relieved by ibuprofen, associated with visual changes, and “spasms” of her left arm. Computed tomography (CT) done in department revealed a large right frontal lobe mass with significant edema in the right frontal lobe (Figure 1).
Further history elicited a progressive history of decreased nighttime vision, new astigmatism, urinary urgency with occasional incontinence. She endorsed frequent tearful spells, slowed mentation, and occasional falls: “my leg gives out.” Family history was significant for Crohn’s disease in her father, rheumatoid arthritis in her maternal grandmother and great-aunt. She denied any other medical conditions, medications, or substance abuse.
Physical exam revealed a thin anxious appearing young female. Cardiopulmonary exam was normal. There were several neurological findings. Cranial nerves were intact, pinprick, soft touch, and proprioception intact in all extremities. Fundoscopic exam revealed mild papilledema, visual fields were intact. Strength testing was remarkable for 4/5 in the left upper extremity, notably -4/5 in the left hand, and 4/5 in the left anterior tibialis and psoas. Reflexes were 3 + in the left ankle, with an up-going Babinski on the left. Tone was supple. Cerebellar testing revealed dysdiadochokinesis with the left upper and lower extremities. Gait was mildly hemiparetic on the left.
An MRI revealed 5.8cm x 2.9cm x 5.3 cm mass in the right frontal lobe with several small enhancing white matter lesions scattered throughout the left occipital lobe, right frontal and parietal lobes, and the cerebellum (Figures 2, 3). The enhancement and location of these lesions in the context of her clinical picture were suggestive of a demyelinating process. Both neurosurgery and neurology consultants recommended an MRI of the cervical spine before proceeding with brain biopsy. MRI revealed non-enhancing lesions in the left dorsal cord at the level of C1 and central cord lesions at the level of C2-3 (Figure 4). Based on the history, physical exam, and presence of enhancing and non-enhancing lesions, the diagnosis of tumefactive multiple sclerosis was made.
The patient was started on methylprednisolone 1g intravenously; however, she showed minimal response. She was subsequently scheduled for five sessions of plasmapheresis. After the second round of plasmapheresis, she exhibited 5/5 strength in her left upper extremity and improved ambulation. By discharge, her only remaining deficit was minimally decreased strength in her lower extremity. CT head obtained 30 days post-discharge revealed moderate resolution of the lesions (Figure 5).
We presented an unusual case of tumefactive multiple sclerosis responsive to plasmapheresis. Tumefactive MS is rare, present in 1 to 2 in 1000 cases of MS,1with predominantly female distribution.2,3It can present with various symptoms, from slowed mentation, memory lapses,4limb weakness,3,5,6,7confusion, gaze preference,3visual changes,6, 8dizziness,7and ataxia.6
The McDonald criteria for MS require two or more attacks with clinical evidence of two or more lesions, or one lesion with dissemination in space and time shown by MRI. One attack with two lesions demonstrated clinically with dissemination in time shown by MRI is also sufficient. TMS is further defined as a lesion greater than two centimeters.1,6
TMS is a diagnostic challenge. It can appear similar to other intracranial processes, such as brain abscesses, malignancies, and acute disseminated encephalomyelitis.8However, there are some features of TMS which may help distinguish it from other processes seen by MRI. TMS lesions demonstrate incomplete ring enhancement, lack of mass effect, lack of cortical involvement, and mixed T2 weighted iso- and hyper- intensity of enhanced regions.6, 8,10-11The open part of the ring usually occurs on the grey matter side of the lesion.11-13Decreased perfusion of the lesion and rapid resolution after steroid therapy can also be seen.12Histopathology of TMS lesions demonstrate hyper-cellularity, gliosis, foamy macrophages, reactive astrocytes, and myelin loss with some axonal preservation.3, 5, 8, 12Although most large intracranial lesions are biopsied to obtain a final pathologic diagnosis, it has been suggested that a careful neurological exam, clinical history, and MRI may obviate the need for biopsy.1, 14
As demonstrated by Luchinetti et al., TMS does not necessarily signify a more severe form of MS, nor does it seem to affect the clinical course. No link has been found between mass effect and size of lesion with clinical course and disability. Plasmapheresis and steroid therapy have resulted in improvement of symptoms.15
We present a rare case of tumefactive multiple sclerosis diagnosed by MRI and clinical findings. The appearance of a large, enhancing lesion with multiple non-enhancing lesions on MRI, visual changes, and sensorimotor defects responsive to plasmapheresis in our patient is consistent with TMS.
-  C.F. Lucchinetti, R.H. Gavrilova, I. Metz, J.E. Parisi, B.W. Scheithauer, S. Weigand. Clinical and radiographic spectrum of pathologically confirmed tumefactive multiple sclerosis. Brain. 2008;131(7):1759-1775 Crossref
-  S. Poser, W. Luer, H. Bruhn. Acute demyelinating disease. Classification and non-invasive diagnosis. Acta Neurol Scand. 1992;86(5):579-585 Crossref
-  H. Yacoub, Z. Qudahl, H. Lee, et al. Tumefactive Multiple SClerosis presenting as ACute Ischemic Stroke. Journal of Vascular and Interventional Neurology. 2011;4(2):21-23
-  Y. Katsuura. Ring-enhancing tumefactive multiple sclerosis. Royal College of Surgeons in Ireland Student Medical Journal. 2011;4(1):31-34
-  Kuan YC, Wang KC, Yuan WH, Tumefactive Multiple Sclerosis in Taiwan. PLoS ONE 8(7): e69919.
-  H. Kalanie, A. Harandi. Bakhshandehpour R Multiple Large Tumefactive MS Plaques in a Young Man: A Diagnostic Enigma and Therapeutic Challenge. (Case Reports in, Radiology, 2012)
-  S. Yamada, S. Yamada, H. Nakaguchi. Tumefactive multiple sclerosis requiring emergent biopsy and histological investigation to confirm the diagnosis. Journal of Medical Case Reports. 2012;6:104 Crossref
-  Jitawatanarat P, Tingpej B, Deringer P. Tumefactive Multiple sclerosis. BJMP (2011) 4(2)a419.
-  W.I. McDonald, A. Compston, G. Edan. Recommended diagnostic criteria for mtuliple sclerosis: guidelines from the INternational Panel on the diagnosis of multiple sclerosis. Ann Neurol. 2001;50(1):121-127 Crossref
-  A.P. Dagher, J. Smimiotopoulos. Tumefactive demyelinating lesions. Neuroradiology. 1996;38(6):560-566
-  J.C. Masdeu, C. Quinto, C. Olivera, et al. Open-ring imaging sign: highly specific for atypical brain demyelination. Neurology. 2000;54(7):1427-1433 Crossref
-  C.A. Given, B.S. Stevens, C. Lee. The MRI Appearance of Tumefactive Demyelinating Lesions. AJR. 2004;182:195-199 Crossref
-  D.S. Kim, D.G. Na, K.H. Kim, et al. Distinguishing Tumefactive Demyelinating LEsions from GLioma or Central Nervous System Lymphoma. Radiology. 2009;251(2):467-475 Crossref
-  F. Barkhof, M. Rocca, G. Francis. Validation of diagnostic magnetic resonance imaging criteria for multiple sclerosis and response to interferon beta 1a. Ann Neurol. 2003;53(6):718-724 Crossref
-  M. Rodriguez, W.E. Karnes, J.D. Bartleson, et al. Plasmapheresis in acute episodes of fulminant CNS inflammatory demyelination. Neurology. 1993;43(6):1100-1104
a Internal Medicine Residency, St. Luke’s University Hospital, Bethlehem PA USA
b Emergency Medicine Residency, St. Luke’s University Hospital, Bethlehem PA, USA
c Emergency Medicine & Critical Care Medicine, St Luke’s University Hospital, Bethlehem PA, USA
d Edward Via College of Osteopathic Medicine, Blacksburg Virginia USA
© 2014 Published by Elsevier B.V.