Anatomo-chemical studies on a case of congenital sudanophilic leucodystrophy

Pelizaeus-Merzbacher disease: a form of sudanophil leucodystrophy

“…The extreme poverty of myelinated fibres in much of the centrum ovale and in the cerebral cortex was equivalent to that characterizing the congenital type I. Chemically, the white matter showed an extremely low level of neutral hexose (cerebroside), even lower than what has been found in other examples of the congenital form (Norman and Tingey, case 2, 1963;Bargeton-Farkas and Edgar, 1964). These values are considerably less than those in the normal neonatal brain or, in our experience, in other forms of leucodystrophy (Tingey and Edgar, 1963).…”

“…The water content was as large as in the neonatal brain. The unequivocally high levels of lipid hexosamine, neuraminic acid, and residual hexosamine are features common to leucodystrophies of different types, the former being particularly indicative of an endogenous disease of myelin (Edgar, 1961;Bargeton-Farkas and Edgar, 1964). Lipid hexosamine was also greatly increased in the cerebral cortex which was otherwise not obviously abnormal except for the low neutral hexose.…”

Syndrome of micrencephaly, strio-cerebellar calcifications, and leucodystrophy

“…The chemical analysis of this brain did not show the unequivocally raised lipid hexosamine which is so often found in various forms of leucodystrophy, but the latter change is not necessarily present in all familial demyelinating diseases (Bargeton-Farkas and Edgar, 1964). For example, in the brothers described by Liithy and Bischoff (1961) there was widespread patchy demyelination but no increase in the lipid hexosamine.…”

Autosomal recessive form of connatal Pelizaeus‐Merzbacher disease

“…In the family described by Watanabe et al, the proband's male third cousin and male second cousin once removed were affected. Twenty male relatives of a 5-generation X-linked recessive pedigree are described by Zeman et al [ 19641. Five additional reports describe simplex families-some with little or no information about normal sibs, others where the proposita was the only child [Adachi and Schneck, 1970;Bargeton-Farkas and Edgar, 1964;Cassidy et al, 1987;Peiffer and Zerbin-Rubin, 1963;Schnabel , 19701. Seven multiplex families with some additional family information remain. If we exclude the two X-linked pedigrees, 13 families (including ours) are available for analysis.…”