DEGENERESCENCE SPONGIEUSE FAMILIALE DU SYSTEME NERVEUX CENTRAL

Abstract

A case o f fami l ial spongy degenerat ion o f cent r a l nervaus sys tem i s repor ted . Cl inical manifestation ,hi s topathologi c changes and pat hogene sis have been disc us sed . The patie nt 15 a ') months o:d baby "'ho deve:oped nervous disorde r s as hypotonia and sucking di fficu lty short :y a f t e r birth . From t he second month he had hypert oni c and s pas t ic attacks and fina:ly di ~d in r espiratoy dis t r ess . The baby 's parents are c l os e re lative s and t heir fi - rst chi l d had developed s i mi l ar c linical s ymptoms and di - e d at 4 months of age .
Microscopical l y , pathologic change s i nclude spong i osis o f the enti re whi t e matte r o f t he central nervous system associated with diffuse gliosi s Al zheime r t ype 11 . Re cent ultrastructural and biochemical studies have demonst rated unique fe ature that are consist ent ,with t he accumulati on of excessive f l uid within t he as t rocyti c c ytoplasm and myelin l ame l l ae.