An uncommon look-alike of multiple sclerosis: Schilder's disease
A rare MS-like disease that occurs mainly in teenagers and young adults, it is characterised by demyelination of large areas of white matter.
How do you recognise Schilder's myelinoclastic diffuse sclerosis (MDS)?
- CSF inconspicuous or atypical for MS.
- If performed: histological features of brain biopsy compatible with MS
- No fever, viral or mycoplasma infection, or vaccination prior to neurological symptoms.
- Normal adrenal function and serum concentration of very-long-chain fatty acids (VLCFA).
- Radiological assessment: usually bilateral large areas of tumour-active white matter demyelination with discontinuous ring enhancement, often in frontal or parietal lobes. Typically cerebral cortex, cerebellum, brainstem and spinal cord are spared.1
Young woman with headache, vomiting and frontal lobe syndrome
A 22-year-old woman with no significant previous medical history was admitted to the emergency department with headache, vomiting, frontal lobe syndrome and loss of vision. She had no fever or infectious focus. A CT-scan of the head revealed bilateral frontal hypodensities without any enhancement. With a suspected diagnosis of meningoencephalitis, she was treated with triaxone and aciclovir for 15 days in an infectious disease ward without clinical improvement.
A subsequent MRI showed two separate lesions in both frontal lobes, hypointense in the T1-weighted sequence, hyperintense in the T2-, FLAIR- and DWI-weighted sequences, discontinuous ring enhancement and mass effect. The MRI findings in conjunction with the clinical symptoms suggested the diagnosis of demyelinating disease and Schilder's disease in particular. Histological evidence in the form of a brain biopsy was not performed due to its invasiveness. The patient was transferred to the neurology department where she received high-dose corticosteroids for 5 days.1
Serious clinical consequences if treatment is delayed
CSF diagnostics revealed no oligoclonal bands, and normal cell count and biochemistry; while viral and bacterial cultures were sterile. The few drops taken aggravated the patient's neurological condition. Currently, there is no consensus on whether MDS should be seen as a rare MS variant or as a separate disease in itself. In favour of the latter is the fact that the CSF findings of most MDS patients differ significantly from those typical for MS.2 EBV serum antibodies, which are present in practically all MS patients, and the so-called MRZ reaction (measles/rubella/zoster), a highly specific marker for MS, were also absent in MDS cases described in the literature.2
In the case of the young woman, the diagnostic delay led to bed-ridden care, which - according to the casuistry assessment - could have been avoided. The disease is considered sensitive to steroids, although there is no evidence base on efficacy in children due to the rarity of the disease. Moreover, a 2012 publication suggests treating first with human IV immunoglobulins and then with high-dose corticosteroids.3
At the follow-up examination after 6 months, the patient's symptoms had clearly improved and the previously described bifrontal lesions had almost completely disappeared. However, the long-term course of MDS is uncertain; it can be progressive or relapsing, and complete recoveries have also been documented.
More information on neurology:
- Taoussi, R. et al. A rare presentation of multiple sclerosis: Schilder’s disease. Radiology Case Reports 17, 2661–2664 (2022).
- Jarius, S., Haas, J., Paul, F. & Wildemann, B. Myelinoclastic diffuse sclerosis (Schilder’s disease) is immunologically distinct from multiple sclerosis: results from retrospective analysis of 92 lumbar punctures. J Neuroinflammation 16, 51 (2019).
- Kraus, D., Konen, O. & Straussberg, R. Schilder’s disease: Non-invasive diagnosis and successful treatment with human immunoglobulins. European Journal of Paediatric Neurology 16, 206–208 (2012).
Last visited: 11.03.23