Schilder's Diffuse Sclerosis

Abstract

The natural history and the evolution of the concept of Schilder''s diffuse sclerosis have been described by Poser and van Bogaert in 1956 and there is really not much to add to their analysis. The major progress made in the clinical, genetic, enzymatic and biochemical workup of many of the conditions previously grouped under the denomination of Schilder''s disease confirms its heterogeneity. We will discuss (1) the myelinoclastic disorders; (2) the leukodystrophies with disorders such as adrenoleukodystrophy and the still very ill-defined sudanophilic leukodystrophies; (3) the subacute sclerosing leukoencephalitis, better known today as the subacute sclerosing panencephalitis. In conclusion, the name of Schilder is to be remembered as are all the names of the great neurologists and neuropathologists of the past but it would be better to avoid nowadays the eponym of Schilder''s disease in order to prevent confusion between different disorders.

Myelinoclastic Diffuse Sclerosis Presenting as a Mass Lesion in a Child with Turner’s Syndrome

“…There are no published cases of evoked poten tials in pediatric MDS patients; however, visual evoked responses in particular may be helpful in verifying the diagnosis [2], Neuroimaging techniques have become an important part of the clinical evaluation. MRI and computerized tomography scans show evidence of one or two, often roughly symmetric, well-demarcated plaques measuring at least 3 x 2 cm in the semicentrum ovale [12,14,15]. The plaques usually enhance very brightly and there may be evidence of some mass effect.…”

Schilder's Disease: Case Study With Serial Neuroimaging

“…It represents a more acute form of multiple sclerosis and is a very rare disease that occurs especially in children of both sexes. 7,11 The histologic features of brain tissue are identical to those of multiple sclerosis. The most common manifestation is an acute hemiplegia with headache, vomiting, and behavioral deterioration.…”

Adrenoleukodystrophy in Norway: High Rate of De Novo Mutations and Age-Dependent Penetrance

“…During the first and middle part of the 20 th century, there was much uncertainty as to the cause and classification of childhood disorders of rapid neurological deterioration with diffuse demyelination demonstrated on autopsy. The term "Schilder's disease" or "Schilder's diffuse sclerosis" was applied to several disorders now seen as separate disease entities, among them cases now believed to be X-ALD [17]. The term "adrenoleukodystrophy" (ALD) was introduced by Blaw in 1970 [18].…”

“…On the other hand, the dramatic clinical picture of childhood CER, often seen in conjunction with Addisonism, may have been readily identified even early on. To some extent, the improved understanding of X-ALD has led to some conditions being chipped off as other distinct disease entities, as happened when the several disorders covered by the term "Schilder's disease" were elucidated [17]. However, this process of separation took place before the epidemiological studies were performed, from the 1990s onward.…”