Tiago Lorga1, Marta Magriço2, Manuel Salavisa2, Pedro Soares1Patient
17 years, male
A 17-year-old male presented with sudden-onset sensitive and motor deficits of the lower limbs. During the previous days the patient mentioned a gradual feeling of fatigue. The patient was submitted to a thorough neurological examination that revealed lower limbs ataxia, motor deficits of the left hand and generalized hyperreflexia.
A non-contrast CT scan was performed and revealed a large hypodense lesion in the left centrum semiovale with little mass effect. A discrete and smaller hypodense lesion was considered in the right centrum semiovale. Both lesions did not reveal enhancement after intravenous contrast administration. No further relevant findings were documented in the CT.
Afterwards, MR imaging of the brain was performed and showed two large and roughly symmetrical bilateral lesions in the centrum semiovale with little mass effect. These lesions presented T2/FLAIR hypersignal and moderate heterogenous T1-signal. Faint peripheral enhancement was seen on the right lesion and a very subtle restricted diffusion outer ring was documented on the same lesion. MR spectroscopy did reveal a slightly increased choline peak and a decreased N-acetylaspartate (NAA) peak on both lesions. No increased perfusion was present.
Apart from the centrum semiovale lesions, three foci of T2-hypersignal with no enhancement or diffusion restriction were present in the right splenium of the corpus callosum, right posterior insular region and left subcortical parietal region.
No signal abnormalities were documented in the optic nerves.
A cervical and dorsal T2 STIR were performed and no medullary lesions were spotted.
Background and Clinical Perspective
Schilder’s disease, also known as myelinoclastic diffuse sclerosis, was first described in 1912 by Paul Schilder . It is considered to be a rare and aggressive variant of multiple sclerosis that predominantly affects children, and most frequently shows a monophasic course. Schilder’s disease is characterized by acute or subacute focal neurological deficits, such as spastic paresis, which differ from the typical clinical presentation of multiple sclerosis [1, 2].
The final diagnosis of Schilder’s disease relies on histology with the hallmark of myelinoclastic lesions within the bilateral centrum semiovale with sparing of axons and sharply demarcated borders .
Due to its low prevalence, few studies regarding Schilder’s disease are available. It is debatable whether it is a variant of multiple sclerosis or a pathological entity in its own right as they might be immunopathological distinct entities. Oligoclonal bands (OCBs) are only present in up to 20% of cases of Schilder’s disease, whereas in multiple sclerosis OCBs are present in up to 98% of cases .
On MRI, the presence of two large, roughly symmetrical, bilateral white matter lesions in the centrum semiovale is the hallmark imaging finding of Schilder’s disease. These lesions will appear T2 FLAIR-hyperintense with well-defined borders and on T1 may look heterogeneous. They do not wield significant mass effect and can reveal faint peripheral diffusion restriction and enhancement when in an acute phase [2, 4].
Spectroscopy usually shows increased choline and decreased NAA peaks.
Smaller T2 FLAIR-hyperintense supratentorial white matter lesions may also be present.
The absence of brainstem, optic nerves and spinal involvement is a distinctive trait of Schilder’s disease .
Schilder’s disease tends to have a monophasic course and relapses are very scarce .
Although there is currently no evidence-based therapy, corticosteroid treatment seems to be significantly effective as several case reports confirm clinical improvement and shrinkage of the lesions as well as disappearance of contrast enhancement.
The usage of disease modifying treatment options for multiple sclerosis (such as intravenous human immunoglobulins) may be considered in selected patients with Schilder’s disease .
After corticosteroid therapy, lesions tend to shrink and atrophy in the lesion area will persist in the chronic phase. Apart from abnormal neurologic findings after therapy, no MRI follow-up is usually required [2, 6].
Further research is paramount to establish definite recommendations and treatment guidelines.
All patient data has been completely anonymised throughout the entire manuscript and related files.
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 Kraus D, Konen O, Straussberg R (2012) Schilder's disease: non-invasive diagnosis and successful treatment with human immunoglobulins. Eur J Paediatr Neurol 16(2):206-8
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