|Year : 2017 | Volume
| Issue : 2 | Page : 110-112
Myelinoclastic diffuse sclerosis (Schilder's disease)
Pragya Singh, Binit Sureka, Mahesh Kumar Mittal, Brij Bhushan Thukral
Department of Radiodiagnosis and Imaging, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India
|Date of Web Publication||15-Sep-2017|
Department of Radiodiagnosis and Imaging, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi - 110 029
Source of Support: None, Conflict of Interest: None
Schilder's myelinoclastic diffuse sclerosis is a rare sporadic demyelinating disease that usually affects children between 5 and 14 years old. The disease often mimics intracranial neoplasm or abscess. We report a 9-year-old girl with Schilder's disease who presented with sudden onset of right hemiparesis. Brain magnetic resonance imaging (MRI) showed a single large tumefactive white matter lesion. A diagnosis of Schilder's disease was based on clinical features and MRI findings. The patient showed dramatic clinical improvement and significant regression of the lesion in response to high-dose intravenous methyl prednisolone.
Keywords: Demyleination, tumefactive, Schilder's
|How to cite this article:|
Singh P, Sureka B, Mittal MK, Thukral BB. Myelinoclastic diffuse sclerosis (Schilder's disease). J Mahatma Gandhi Inst Med Sci 2017;22:110-2
| Introduction|| |
Schilder's disease, also known as myelinoclastic diffuse sclerosis, was first described by Schilder in 1912. It is a sporadic subacute demyelinating brain disease that usually affects children. This rare disease results in the formation of one or two bilateral large tumefactive plaques. Neuroimaging studies also may mimic brain tumor or abscess; however, the absence of significant edema, the irregular and incomplete ring enhancement, the discrepancy between size of the lesions and the associated mass effect, and the absence of other lesions elsewhere in the brain may help differentiate Schilder's disease from neoplasm, infection, and other demyelinating lesions. The clinical presentation is atypical for pediatric multiple sclerosis, and radiologic findings often mimic brain tumor or abscess. Clinical course or treatments for Schilder's disease have not been clearly established. However, some radiological characteristics and clinical features suggest differential diagnosis from other demyelinating diseases, brain tumors, or abscess. Here, we contribute to the understanding of Schilder's disease by presenting the case of a child with Schilder's disease.
| Case Report|| |
A 9-year-old girl presented with acute right side hemiparesis and slurring of speech.
Noncontrast computed tomography scan brain done in emergency showed a large area of white matter hypodensity involving the left frontoparietal region. Brain magnetic resonance imaging (MRI) showed an ill-defined lesion measuring 7.5 cm × 4.4 cm × 6.5 cm in the left centrum semiovale which was isointense on T1-weighted, hyperintense on T2-weighted with area of central fluid-attenuated inversion recovery (FLAIR) suppression suggestive of cystic degeneration. T2-weighted*fast field echo sequence showed areas of vessel-like hypointensity within the lesion. No diffusion restriction was present. The lesion showed irregular peripheral enhancement in the anteroinferior aspect. Surrounding white matter showed massive edema extending into the splenium of corpus callosum with mass effect causing midline shift of 8 mm toward right and subfacine and uncal herniation [Figure 1] and [Figure 2]. Although the characteristics were suggestive of high-grade glioma, however in view of the open ring like irregular enhancement and vessel-like structure within, the differential of tumefactive demyleinating lesion (TDL) was kept. The diagnosis of demyleinating disease such as multiple sclerosis was suspected. However, the brain MRI was not typical for multiple sclerosis.
|Figure 1: Axial T2-weighted magnetic resonance imaging (a) an ill-defined hyperintense mass lesion in the left centrum semiovale with surrounding white matter edema. The lesion shows foci of T2-weighted hypointense vessel-like structure (arrow). Axial fluid-attenuated inversion recovery magnetic resonance imaging (b) the lesion is hyperintense with a central area of cystic degeneration which is suppressed (black arrow). Coronal T2-weighted image shows lesion in the left centrum semiovale with massive white matter edema extending into the corpus callosum and causing mass effect on left frontal horn, midline shift with subfalcine herniation (arrow)|
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|Figure 2: Axial T1-weighted (a) magnetic resonance imaging shows the ill-defined lesion is isointense to gray matter with a hypointense area of cystic degeneration. Coronal (b) and sagittal (c) postcontrast T1-weighted image shows irregular open-ring type of enhancement along the anteroinferior aspect of the lesion (arrow)|
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Oligoclonal bands in cerebrospinal fluid were negative, and a spine MRI showed no abnormalities. Therefore, we diagnosed this patient with Schilder's disease. The patient received 10 mg/kg/day IV methylprednisolone for 10 days and showed rapid improvement in symptoms.
Repeat MRI scan after 2 weeks showed a reduction in white matter edema, increased cystic degeneration, and reduction in the enhancing portion [Figure 3].
|Figure 3: Follow-up magnetic resonance imaging done after 2 weeks of steroids. Axial T2-weighted fluid attenuated inversion recovery (a) a reduction in the size of the lesion and surrounding edema and increase in the size of the cystic degeneration. (b) Sagittal T1-weighted image shows a reduction in the enhancement of the lesion. Surrounding mass effect has also reduced|
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The patient was put on oral prednisolone (1 mg/kg/day) which was gradually tapered over 3 months. The patient showed near-complete recovery with mild residual left-sided weakness. Repeat MRI brain scan showed near-complete resolution of white matter edema, reduction in the size of the primary lesion with increased central cystic degeneration and surrounding scarring [Figure 4]. A good response to steroid pulse therapy was also supportive of the diagnosis.
|Figure 4: Axial T2-weighted image of scan taken 2 months after the initial episode shows reduction in the size of the lesion and near-complete resolution of surrounding edema with central cystic degeneration and adjacent scarring|
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| Discussion|| |
The diagnostic criteria of Schilder's disease proposed by Poser et al. are as follows: subacute myelinoclastic disorder resulting in the formation of one, or more commonly, two roughly symmetric bilateral plaques measuring at least 2 cm × 3 cm in two of three dimensions, involving the centrum semiovale. These must be the only lesions demonstrable by clinical, paraclinical, or imaging studies. There must be no peripheral nervous system lesion. Adrenal function and very long-chain fatty acids must be normal. The histopathology must be identical to multiple sclerosis.
Our patient fulfills the Poser's criteria, except the absence of histopathology, as brain biopsy was not performed. The tests of adrenal function were normal, and the patient did not show symptoms of adrenal crisis or adrenal insufficiency. As suggested in recent studies, improved MRI findings of biopsy-proven cases of Schilder's disease have enabled noninvasive diagnosis of Schilder's disease. In our patient, a good response to steroid pulse therapy was also supportive of the diagnosis. MRI in Schilder's disease shows a hypointense lesion on T1-weighted images and a hyperintense lesion on T2-weighted images. Open ring contrast enhancement caused by an acute inflammatory process in the white matter is characteristic. Other findings are the increased signal in the periphery with suppression in the center on FLAIR and an increase in the apparent diffusion coefficient. The lesion may show cystic degeneration and may resolve with scarring as seen in our case. These radiologic features are also supportive of the diagnosis of Schilder's disease.
In MRI scan, TDL appears as a lesion with ill-defined margins, a variable degree of perilesional edema, mass effect, central zones of necrosis, and cystic degeneration. These neuroimaging features mimic closely with that of glial neoplasm or even a chronic abscess. This misdiagnosis can lead to inadvertent surgery or radiotherapy. However, there are some neuroimaging features which could distinguish TDL from gliomas. These include incomplete ring enhancement, location in the subcortical hemispheric white matter, the relative lack of mass effect, perifocal edema, vessel-like structures running through the center of lesions on dynamic T2*-weighted images, perfusion studies showing decreased regional cerebral blood volume, increased diffusion coefficients, and MR spectroscopic metabolic information can also be helpful. Distinct elevation of glutamic glutamate can be to the diagnosis of TDL because the elevation of glutamic glutamate is seldom seen in gliomas.
The possibility of pediatric multiple sclerosis was also considered in our patient. However, no previous clinical attacks and a single large demyleinating lesion were atypical for multiple sclerosis but consistent with Schilder's disease.
In rare cases of acute disseminated encephalomyelitis (ADEM), brain MRI may show a large single lesion, predominantly white matter. However, it is preceded by an episode of viral infection or vaccination which was absent in our case. ADEM lesions usually show complete resolution, and cystic degeneration has never been reported in ADEM.
| Conclusion|| |
Schilder's disease should be considered in children with acute or subacute neurological symptom, and a large tumefactive lesion in MRI.
Dr. Brij Bhushan Thukral for his guidance.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Schilder P. Zur Kenntnis der sogennanten diffusen Sklerose. Z Gesamte Neurol Psychiatr 1912;10:1-60.
Poser CM, Goutières F, Carpentier MA, Aicardi J. Schilder's myelinoclastic diffuse sclerosis. Pediatrics 1986;77:107-12.
Bacigaluppi S, Polonara G, Zavanone ML, Campanella R, Branca V, Gaini SM, et al.
Schilder's disease: Non-invasive diagnosis? A case report and review. Neurol Sci 2009;30:421-30.
Kim DS, Na DG, Kim KH, Kim JH, Kim E, Yun BL, et al.
Distinguishing tumefactive demyelinating lesions from glioma or central nervous system lymphoma: Added value of unenhanced CT compared with conventional contrast-enhanced MR imaging. Radiology 2009;251:467-75.
Honkaniemi J, Dastidar P, Kähärä V, Haapasalo H. Delayed MR imaging changes in acute disseminated encephalomyelitis. AJNR Am J Neuroradiol 2001;22:1117-24.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]