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Neuroradiology Case of the Week

Case 379

January 2009

Rajiv Mangla, MD, Balasubramanya S. Kolar, MD
and P-L Westesson MD, PhD, DDS

Clinical Presentation: A 21-year-old woman presented with acute decrease in visual acuity of both eyes.

Imaging Findings: Large mass centered in the white matter of the left occipitotemporal area involves the splenium and right occipital white matter. It shows abnormal low signal intensity on T1-weighted images and abnormal high signal on T2-weighted sequences (Figs. 1 & 2). There is surrounding vasogenic edema. After contrast administration, there are multiple areas of abnormal nodular and peripheral enhancement in this lesion (Figs. 3 & 4). Diffusion weighted images demonstrate abnormal high signal intensity which represents T2 shine through effect. MR spectroscopy sequence demonstrates mild depression of the NAA peak with a elevated choline to creatinine ratio and a lactate peak (Figs. 5A & 5B).

Diagnosis: Tumefactive demyelinating lesion with features suggestive of Schilder's myelinoclastic diffuse sclerosis.

Discussion: This disease is exceedingly rare. Schilder's disease is not the same as Addison-Schilder disease (adrenoleukodystrophy). Approximately 100 cases have been reported. It is seen more commonly in children than adults. Clinical presentation is usually acute and more severe than multiple sclerosis. Paul Schilder described it first in 1912. One or two large (more than 2 cm in 2 or 3 dimensions), asymmetrical, sharply demarcated areas of demyelination in centrum semiovale are described as radiological diagnosis of Schilder's disease. Adrenoleukodystrophy, acute demyelinating encephalomyelitis(ADEM), subacute sclerosing panencephalitis (SSPE), primary CNS lymphoma, Wagner’s granulomatois, glioblastoma multiforme and multiple sclerosis are the differentials. Elevation of CSF protein is more frequently encountered in Schilder's disease than in multiple sclerosis, but it is seldom higher than 100 mg/dL. CSF may be normal or may contain 10-60 monocytic cells (lymphs and monocytes). Adrenoleukodystrophy should be ruled out by absence of serum very long chain fatty acid studies and normal adrenal function studies. SSPE and rubella encephalitis should be ruled out by rubeola or rubella titers in CSF. The open-ring sign is often present in large, contrast-enhancing demyelinating lesions and helps to differentiate them from neoplasms and infections. These tumefactive lesions may produce elevated choline with suppressed levels of N-acetylaspartate and detectable levels of lipids and lactate, mimicking an aggressive neoplastic process.
     Brain biopsy suggests demyelinating process and can not differentiate between different demyelinating lesions like Schilder's disease, acute multiple sclerosis, and acute disseminated encephalomyelitis. The biopsy performed in this case was suggestive of inflammatory demyelinating lesion. The imaging pattern, clinical symptoms and pathology findings did favor the diagnosis of Schilder's myelinoclastic diffuse sclerosis in our case. Other close differential can be monophasic, solitary tumefactive demyelinating lesion which might be differentiated on the basis of clinical follow-up of the patient.

References:

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2. Schilder P. Zur Kenntnis der sogenannten diffusen Sklerose. Zeitschrift für die Gesamte Neurologie und Psychiatrie, 1912;10:1-60
3. Ellison PH, Barron KD. Clinical recovery from Schilder disease. Neurology. 1979 Feb;29(2):244-51. [PubMed]
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