Tumorlike demyelination in tumefactive ms is rare and estimated at 1 to 2 per cases of ms or 3 cases per million per year in the general population. The patient with previous diagnosis of relapsingremitting ms progressed to secondary progressive ms. Mass effect and contrast enhancement on neuroimaging make it difficult to distinguish this type of. Demyelination is often secondary to an infectious, an ischemic, a metabolic, or a hereditary disorder or to a toxin eg, alcohol, ethambutol. This is a good example of tumefactive demyelination with the typical advancing edge of enhancement. Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations rvcls is a rare, autosomal dominant condition caused by mutations in the trex1 gene. Tumefactive lesions are an uncommon manifestation of demyelinating disease and can pose a diagnostic challenge in patients without a preexisting diagnosis of multiple sclerosis. Tumefactive demyelinating lesion radiology reference. Tumefactive demyelinating lesions are rare consequences of central nervous system cns idiopathic inflammatory demyelinating diseases.
Tumefactive demyelination is a variant of multiple sclerosis in which plaque size is. In turn, the reduction in conduction ability causes deficiency in sensation, movement, cognition, or other functions depending on which nerves are involved. Tumefactive multiple sclerosis is a condition in which the central nervous system of a person has multiple demyelinating lesions with atypical characteristics for those of standard multiple sclerosis ms. Saindane am, soonmee c, meng l, xiaonan x, knopp ea, zagzag d. Inflammatory demyelination occasionally forms a solitary mass lesion clinically and radiographically indistinguishable from glioma, replete with enhancement and mass effect. Several characteristic conventional mr imaging findings and. Large demyelinating lesions with possible mass effect tumefactive multiple sclerosis or tumefactive demyelination can be mistaken for. Inflammatory demyelinating pseudotumor idp is a rare inflammatory lesion of unknown etiology, which presents as a spaceoccupying lesion but responds dramatically to steroid therapy. However, these findings, as well as the inverted doublet shape of the lactate curve may occur in tumefactive demyelinating lesions and tumours alike. Tumefactive demyelinating lesions in multiple sclerosis and. Multifocal tumefactive demyelination mimicking intracranial. Tumefactive multiple sclerosis is a rare form of multiple sclerosis ms with symptoms similar to those of a brain tumor. Free, official coding info for 2020 icd10cm g37 includes detailed rules, notes, synonyms, icd9cm conversion, index and annotation crosswalks, drg grouping and more.
May 18, 2016 tumefactive multiple sclerosis is characterized by a tumor like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. Pdf multifocal acquired demyelinating sensory and motor madsam neuropathy is characterized by asymmetric multifocal motor and sensory loss and. There is incomplete peripheral enhancement of the lesion. Tdls are defined as demyelinating lesions larger than 2 cm that often have conventional mr imaging findings indistinguishable from highgrade gliomas.
In rare instances, demyelinating disorders manifest as tumefactive lesions that simulate brain tumors. These are lesions of more than 2 cm in size with the presence of mass effect, edema or ring enhancement. Tumefactive demyelinating lesions tdls are large usually 2 cm demyelinating brain lesions that mimic primary brain tumors, including primary central nervous system lymphoma pcnsl. Disease modifying therapies for example, interferon. Jan 10, 2016 whether tumefactive demyelination is another manifestation of ms or represents a distinct entity is apparently a matter of contention. Tumefactive demyelinating lesions tdls are large usually 2 cm demyelinating brain lesions that mimic primary brain tumors, including primary central nervous system lymphoma pcnsl and highgrade glioma. In this report we describe the clinical, neuroimaging and neuropathological features of six cases of tdl. This case report highlights important diagnostic clues in the differential. We would like to show you a description here but the site wont allow us. Pdf demyelination in the central nervous system sometimes presents with large pseudotumoral lesions mimicking brain neoplasm. The characteristics of tumefactive demyelination can mimic other diseases and can even lead to wrong diagnosis. The contralateral and normal appearing white matter also showed high choline, high glutamine.
Rearrange individual pages or entire files in the desired order. Relapsingremitting tumefactive demyelination demyelinating. Demyelination in the central nervous system sometimes presents with large pseudotumoral lesions mimicking brain neoplasm. Pitfalls in the diagnosis of a tumefactive demyelinating. Pdf tumefactive brain demyelination accompanying madsam. Differentiation of tumefactive demyelinating lesions from. Clinical and radiographic spectrum of pathologically confirmed tumefactive multiple sclerosis. We report a patient with a spaceoccupying lesion in the parietal lobe, which presented a serious diagnostic dilemma, between a rare tumefactive demyelinating disease, such as balo concentric sclerosis and a glioma. One of them developed a second tumefactive demyelinating. Clinical presentation of tumefactive ms includes headache, cognitive abnormalities, mental confusion, aphasia, apraxia, andor seizures.
By susan gauthier, do, mph, assistant professor of neurology, weill cornell medical college. Tumefactive demyelinating lesions may be misdiagnosed as brain neoplasms or abscesses. A demyelinating disease is any condition that results in damage to the protective covering myelin sheath that surrounds nerve fibers in your brain, optic nerves and spinal cord. Neuromyelitis optica spectrum disorder with tumefactive. Tumefactive multiple sclerosis or tumefactive demyelinating lesion tdl is one of the rare variants of multiple sclerosis ms posing a diagnostic challenge and a therapeutic enigma since it is difficult to distinguish from a true central nervous system cns neoplasm or other cns lesions on magnetic resonance imaging mri. Tumefactive multiple sclerosis genetic and rare diseases. Tumefactive multiple sclerosis radiology reference article. Such lesions are described as tumefactive demyelinating lesions or tumefactive ms, and they are generally seen in aggressive forms of ms associated with rapid progression. Tumefactive demyelinating disease treated with decompressive craniectomy. In primary demyelinating disorders, cause is unknown, but an autoimmune mechanism is suspected because the disorder sometimes follows a viral infection or viral vaccination. Demyelinating disease presenting with clinical and radiologic features similar to a brain tumour is referred to as tumefactive demyelination. Tumefactive demyelinating lesions tdls can simulate intracranial neoplasms in clinical presentation and mr imaging appearance, and surgical biopsy is.
It plays a part in several chronic conditions, including multiple sclerosis. We report an uncommon but clinically significant case of transtentorial brain herniation secondary to malignant cerebral edema from tumefactive. It is called tumefactive as the lesions are tumorlike and they mimic tumors clinically, radiologically and sometimes pathologically. T1 hypointense top row left oval, subcortical lesion with corresponding flair hyperintense signal top row right and faint rim of incomplete horseshoe enhancement bottom row left. Neuromyelitis optica spectrum disorder nmosd is a diverse condition which not only encompasses isolated longitudinally extensive transverse myelitis letm and optic neuritis but also. Pdf hemicraniectomy in tumefactive demyelinating disease. Acute tumefactive demyelinating lesion confined to spinal cord. Metabolite findings in tumefactive demyelinating lesions. Multiple large tumefactive ms plaques in a young man. In this paper, we present four cases of pediatric tumefactive demyelination. Tumefactive multiple sclerosis requiring emergent biopsy and. Learn more about types of demyelination and why it happens. This damage impairs the conduction of signals in the affected nerves.
When the myelin sheath is damaged, nerve impulses slow or even stop, causing neurological problems. Tumefactive multiple sclerosis is a demyelinating disease that demonstrates tumorlike features on magnetic resonance imaging. Tumefactive multiple sclerosis radiology reference. Pdf merge combine pdf files free tool to merge pdf online. Magnetic resonance imaging in five patients with a tumefactive. To use mr spectroscopy to aid in the diagnosis of demyelinating disease and to help differentiate tumefactive demyelinating lesions from neoplastic. The contralateral and normal appearing white matter also showed high choline, high glutamine and glutamate and the presence of lactate fig. Given the age of the patient, the diagnosis was confirmed with a biopsy. Tumefactive demyelination and pontine demyelination are types of these lesions.
May 19, 2016 disease modifying therapies for example, interferon. Tumefactive lesions in retinal vasculopathy with cerebral. The associated t2 hyperintensity does not extend significantly beyond the leading edge of enhancement. A demyelinating disease is any disease of the nervous system in which the myelin sheath of neurons is damaged. The evidence regarding prognosis and disease course of tumefactive. Proton mr spectroscopy has been applied in assessing various intracranial diseases and is increasingly used in diagnosis and clinical management. Tumefactive multiple sclerosis tms is a demyelinating disease.
These lesions have been describedto be generally welldemarcated, hypodense on ct, and of high t 2 signal and relatively low signal on t 1 signal on mri, various chemical spikes on mr. An openring enhancement directed toward the cortical surface has been associated with demyelinating lesions. Occurrence and longterm outcome of tumefactive demyelinating. Tumefactive demyelinating lesions tdls can simulate intracranial neoplasms in clinical presentation and mr imaging appearance, and surgical biopsy is often performed in suspected tumors. Overview of demyelinating disorders neurologic disorders. Mass effect and contrast enhancement on neuroimaging make it difficult to distinguish this type of lesion from highgrade gliomas. Tumefactive demyelinating lesion is defined as large solitary demyelinating lesion with imaging characteristics mimicking neoplasm. Tumefactive presentation followed by typical rrms 4. Aug 01, 20 is tumefactive demyelination different from ms. Tumefactive multiple sclerosis is a term used to describe patients with established multiple sclerosis who develop large aggressive demyelinating lesions, similaridentical in appearance to those seen in sporadic tumefactive demyelinating lesions tdl. Multiple sclerosis is an inflammatory disease of the central nervous system cns whose aetiology and pathogenesis are still to be clarified. A previously healthy 26yearold woman was seen with a progressive leftside weakness lasting 3 days.
Because of its tumorlike features on magnetic resonance imaging mri 1, 2, histological investigation had played an. Atypical inflammatory demyelinating syndromes of the cns. Spectrum of disease, diagnosis and treatment article pdf available in current neurobiology 0701 january 2016 with 1,001 reads how we measure reads. Oct 01, 2018 tumefactive demyelination last updated. Tumefactive demyelinating lesions in multiple sclerosis. Tdl is now considered to be a separate entity, lying on a spectrum between multiple sclerosis and postinfectious demyelination. Original article a 16yearold girl with bilateral visual loss and left hemiparesis following an immunization against human papilloma virus francis j. Thus, like dwi, mrs did not enable a noninvasive diagnosis in our case. Approximately half of tumefactive demyelinating lesions have pathologic contrast enhancement, usually in the form of ring enhancement 2, 4 figs. Proton mr spectroscopy of tumefactive demyelinating. Multiple sclerosis ms is the most common demyelinating disease. Transtentorial herniation from tumefactive multiple. R neelima 1, k krishnakumar 2, md nair 3, c kesavadas 4. Miscellaneous demyelinating diseases frontalcortex.
Once files have been uploaded to our system, change the order of your pdf documents. Axial t1 prepost contrast and t2 fatsat images demonstrate an ovoid lesion in the right centrum semiovale that is not associated with mass effect. An approach to diagnosis and management tumefactive lesions are an uncommon manifestation. Tumefactive demyelinating lesion tdl is defined as a solitary demyelinating lesion greater than 2 cm. Acute tumefactive demyelinating lesion confined to spinal cord and brainstem mimicking abscess. Tumefactive multiple sclerosis is characterized by a tumor like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. Whether tumefactive demyelination constitutes a disease variant within. 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. Apr 15, 2016 although tumefactive multiple sclerosis is a well recognized variant of multiple sclerosis, prognostic uncertainty still exists about long term prognosis. Proton mr spectroscopy of tumefactive demyelinating lesions. Tumefactive demyelinating lesions pose a diagnostic challenge because they can mimic tumors and abscesses and because they can be caused by a heterogeneous range of disorders. Inflammatory demyelination clinical courses associated with tumefactive demyelination 1.
Gauthier reports she receives research support from emd serono, biogen idec, and novartis pharmaceuticals, and is on the speakers bureau for biogen idec and teva neurosciences. Symptoms of tumefactive ms often differ from other ms cases and may include, headaches, changes in thinking, confusion, speech. Tumefactive demyelinating tdl lesions are focal zones of demyelination in the central nervous system and they often mimic the neuroimaging features of an intraxial neoplasm. Atypical inflammatory demyelinating syndromes are rare disorders that differ from multiple sclerosis owing to unusual clinical or mri findings or poor response to treatments used for multiple sclerosis.
Though not pathognomonic of tumefactive demyelination, the cells are characteristically seen within tumefactive demyelinating lesions. Tumefactive and pontine demyelination dr garys multiple. Once you merge pdfs, you can send them directly to your email or download the file. Ms is a disabling and progressive disease that affects the central nervous system. Oct 01, 2019 demyelination is damage to the myelin sheath around nerves. Tumefactive multiple sclerosis is a rare form of multiple sclerosis ms. Characteristic neuroimaging in patients with tumefactive. Op 26 cm h 2 o, protein 61, 1 rbc 2 wbc, igg index 0. Typical ms course with subsequent tumefactive attack 5. Features of tumefactive demyelinating lesion tdl on magnetic resonance imaging mri. Multiple sclerosis ms is a chronic disease of the central ner. In a study regarding multiple sclerosis is a chronic debilitation special needs trusts are prognosis for tumefactive multiple sclerosis currently used to allow multiple sclerosis will be tough much tougher than a joint policy has been established by smith et al am j gastroenterol 2007. Dimario, jr, md, mirna hajjar, md, and thomas ciesielski, md. Recurrent tumefactive demyelination in a child article pdf available in journal of clinical neuroscience 124.
Twelve cases of pediatric tumefactive demyelination previously reported in the english literature are also summarized. Distinguishing tumefactive lesions from other etiologies of intracranial space occupying lesions is essential to avoid inadvertent surgical or toxic. Tumefactive demyelinating lesion tdl, also sometimes referred to as monofocal acute inflammatory demyelination maid, is a locally aggressive form of demyelination, usually manifesting as a solitary lesion or sometimes a couple of lesions greater than 2 cm that may mimic a neoplasm on imaging. Tumefactive multiple sclerosis requiring emergent biopsy. These syndromes include neuromyelitis optica spectrum disorder, acute disseminated encephalomyelitis, tumefactive demyelination, balos concentric sclerosis, schilders disease, and marburgs. On magnetic resonance imaging mri scans, the condition appears as tumorlike. The final diagnosis of the remaining 3 cases was relapsingremitting ms. The mri appearance of tumefactive demyelinating lesions. Tumefactive demyelinating lesions tdls are defined radiologically as tumor or masslike white matter dominant lesions exceeding 2 cm in size. Certain features on standard as well as advanced mri can potentially promote the diagnosis of tumefactive demyelination and obviate the need for biopsy table 4. To report about a possible association between fingolimod treatment and tumefactive demyelinating lesions tdl as seen in a patient developing repeated tdl on continued.