Pelizaeus-Merzbacher disease: a form of sudanophil leucodystrophy

Sudanophil leucodystrophy: a study of inter-sib variation in the form taken by the demyelinating process

“…If the eponym is to be perpetuated (and it is probably too firmly established to be abandoned), it can properly be used either to denote a purely clinical syndrome, as advocated by Zeman, Demyer, and Falls (1964), or to denote a morphological type of sudanophil leucodystrophy rather than a separate nosological entity. OTHER FEATURES The presence of pachygyria in both sibs confirms the conclusion reached in a previous paper that prenatal malformation of the brain may be an early expression of the abnormal gene responsible for the leucodystrophy (Norman et al, 1966). Another inherited malformation was the selective aplasia of the dentate fascia, for the same abnormality was also found on re-examining the brother's brain.…”

“…The results are shown in the Table, in which comparisons are made with the findings in the previously reported younger brother, G.P.W. (Norman et al, 1962).…”

“…The present case could, therefore, well be classified as an example of this 'disease', whereas another name would have to be found for the brother's condition, for example, 'diffuse sudanophil leucodystrophy'. It follows from this that the definition of Pelizaeus-Merzbacher disease based on this single pathological criterion of discontinuous demyelination ('myelin islands') becomes even more inadequate than previous studies have already suggested (Norman, Tingey, Harvey, and Gregory, 1966). If the eponym is to be perpetuated (and it is probably too firmly established to be abandoned), it can properly be used either to denote a purely clinical syndrome, as advocated by Zeman, Demyer, and Falls (1964), or to denote a morphological type of sudanophil leucodystrophy rather than a separate nosological entity.…”