Abstract

Large demyelinating lesions that resemble tumors are the hallmark of tumor-like demyelinating lesions, also known as tumor-like demyelinating lesions (Tumefactive Demyelinating Lesions, or CNS-IDD). We report a case of 41 years old female patient who was presented with clumsiness of left hand, weakness of left upper limb for 1 week. She also had difficulty in wearing slippers in left foot, difficulty in walking and swaying to sides. She was initially diagnosed as stroke and on further evaluation revealed as Tumefactive demyelination. MRI Brain confirmed a space occupying lesion and a perilesional edema.

Keywords:Tumor; Tumefactive demyelination; Intracranial neoplasms; Cerebral hemisphere; Pathophysiology; Hypertension; Dyslipidaemia; Neurology; Radiological imaging techniques; Autoimmune disorders; Viral infections; Corticosteroids

Introduction

Van der Velden et al. initially used the term “tumefactive demyelination” (TD) in 1979 after discovering a patient with a TD lesion (TDL) on an unenhanced head computerized tomography (CT) scan whose biopsy revealed multiple sclerosis (MS). Both in terms of clinical presentation and standard MR imaging findings, tumorefactive demyelinating lesions (TDLs) can resemble intracranial neoplasms and create a diagnostic conundrum [1]. Since then, many terminologies have been used to refer to TD in the literature, including tumor-like demyelinating lesions, tumefactive or tumorlike MS (TMS), and pseudotumoral demyelinating lesions [1]. Both TDLs and high-grade intracranial neoplasms may exhibit central necrosis, perilesional edema, contrast enhancement, and different levels of mass effect on imaging [2]. In order to prevent needless invasive biopsies or improper treatment, TDL is clinically significant [3]. For the diagnosis of TDLs, a number of distinctive conventional MR imaging findings as well as sophisticated MR imaging approaches have been introduced [1]. Multiple sclerosis is the most prevalent of the demyelinating disorders of the central nervous system, which are often encountered pathologic entities [4]. There is not much diagnostic clue provided by the normal MRI picture of these lesions, which show preferential involvement of the major white matter tracts in a periventricular distribution [4]. The proper diagnosis is frequently not made until following surgical A B biopsy or resection when the disease presents as a single big or tumefactive demyelinating lesion inside a cerebral hemisphere. Generally speaking, tumorefactive demyelinating lesions are solitary lesions larger than 2cm with imaging characteristics similar to those of neoplasms [5]. The tumefactive demyelinating lesions, with few exceptions, do not start as a reaction to an infection or vaccine. The majority of individuals respond well to corticosteroid medication and do not develop multiple sclerosis, despite the fact that the precise pathophysiology is unclear. While TD lesions (TDL) are most frequently linked to multiple sclerosis (MS), they can also occur in other inflammatory diseases like acute demyelinating encephalomyelitis (ADEM), myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), and aquaporin-4-IgG seropositive neuromyelitis optic spectrum disorders (AQP4+ NMOSD) [1]. Although the exact number of cases with tumefactive demyelination has not been determined, it is thought to be between one and two per 1000 MS10 patients, though some sources place the incidence as high as 1.4 to 8% [1]. Numerous pathological entities, including atypical MS variants (Acute Disseminated Encephalomyelitis, Balo’s Concentric Sclerosis, Schilder’s Disease, and Marburg’s Type), have been demonstrated to exhibit tumefactive lesions, overlapping clinical presentations, and distinct immunological signatures. However, there is ongoing debate regarding whether tumefactive CNS lesions are a distinct type of idiopathic isolated demyelinating illness or a variation of multiple sclerosis [6].

Case Presentation

A 41-year-old female patient was admitted in the Neurology department, with the complaints of clumsiness of left hand, weakness of left upper limb, difficulty in wearing slippers in left foot, difficulty in walking and swaying to sides. The condition was initially diagnosed as Ischemic stroke.

The patient had a medical history of Hypertension and Dyslipidaemia.

Based on the MRI screening of cervical spine, it was found that,
a) There is minimal posterior centra; bulge at C4-5 and C5-6 levels.
b) There is mild spinal asymmetry to right side.

The diagnosis of Tumefactive demyelination was done based on the MRI Brain,
It was found that,
a) A well-defined space occupying lesion, of maximum dimension 4.5cm was found in right superior frontal cortex, extending into the deep white matter, mildly high-density fluid like signal inside.
b) Facilitated diffusion was noted within thin rim of peripheral restricted diffusion.
c) There was perilesional edema.
d) Thick ill-defined incomplete arc shaped enhancement along the inferior margin of lesion.
e) Perilesional edema noted with effacement of surrounding sulci and subtle focal midline shift measuring 3.3mm.
f) Mild mass effect with edema at corpus callosum was also noted.
g) CSF study was also done, which indicated.
h) CSF Protrein – 51.
i) CSF Sugar 103mg/Dl.
j) Total Count in CSF – 2cells.
k) Differential count in CSF – Occassional lymphocytes are seen.

CA 125, CA 19.9 and CEA was also done which confirms no existence of neoplasm or malignancy in her body.

Based on the subjective and objective evidence, the case was diagnosed as Tumefactive demyelination.

The patient was initiated with IV corticosteroids, antiepileptics and other supportive measures. Following the diagnosis, the patient and bystanders were counselled regarding the disease condition and when the patient became stable, she was discharged with disease specific medications. The patient and family was not willing for further radiological imaging techniques.

Discussion

TDLs usually happen during the first demyelinating event in the majority of patients with MS and clinically isolated syndrome (CIS). Acute disseminated encephalomyelitis (ADEM), acute hemorrhagic leukoencephalopathy, NMO, and MS variations (e.g., Schilder’s disease, Marburg’s disease, and Balo’s concentric sclerosis) are among the numerous inflammatory conditions that can cause TDLs [7,8]. TDLs have also been documented in cases of autoimmune disorders, cancer (renal cell carcinoma), and viral infections (HIV). Clinical appearance and MRI activity are not usually the same. Prototypical multiple sclerosis and TDLs share a similar pathophysiology. In acute active demyelinating plaques, myelin-rich foamy macrophages are dispersed throughout the lesions, causing inflammation and demyelination. With the development of demyelinated axons and traversing glial tissue, active inflammation and demyelination in chronic active demyelinating plaques decrease in the lesion center while remaining restricted at the lesion periphery. The peripheral enhancing region of TDLs is thought to be the primary site of demyelination on MR imaging because of the temporary disruption of the blood-brain barrier brought on by inflammatory infiltration. Here in this case, a well-defined space occupying lesion was found at the superior frontal cortex which extended into the deep white matter. The size of the lesion was about 4.5cm. Facilitated diffusion was noted within thin rim of peripheral restricted diffusion. Thick ill-defined incomplete arc shaped enhancement was also found along the inferior margin of lesion. Perilesional edema was also noted with effacement of surrounding sulci and subtle focal midline shift which measured about 3mm. Moreover, the CSF study showed, increased sugar, proteins, differential and total counts. Tumefactive lesions are a rare sign of demyelinating disease that might be difficult to diagnose in people who don’t already have multiple sclerosis. A rare neurological illness called tumefactive demyelination (TDL) can resemble brain tumors, abscesses, and other ailments. Multiple sclerosis (MS) variants like TDLs are important because they might be challenging to identify and treat.

Corticosteroids (such as methylprednisolone, 1000mg/day) given intravenously for three to five days and then weaned orally are the first-line treatment for TDLs. In 45% to 80% of cases, corticosteroids reduce the size of the lesion, which lowers the EDSS score. They are generally successful [6].

Conclusion

This case highlights the importance of recognising Tumefactive demyelination through greater extent of diagnostic techniques because the symptoms may cause a misdiagnosis of Stroke or high-grade gliomas. Findings from conventional MR imaging could aid in the precise diagnosis of TDLs. Tumefactive demyelinating lesions present a diagnostic conundrum for radiologists, pathologists, and neurosurgeons. These lesions’ MRI appearance can help with preoperative diagnosis and final pathologic interpretation, perhaps saving the patient from needless and potentially incapacitating treatments and procedures [3,9]. A rare but significant symptom of several immune-mediated neurologic diseases that might be challenging to diagnose is tumefactive demyelination. Understanding the immunopathogenesis of tumefactive demyelination and the disorders that are linked to it would help researchers better comprehend its nosology and interactions [8,10-14].

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