Cerebrospinal Fluid, Serum, and Blood Investigations in Amaurotic Family Idiocy

Increased Lysolecithin in Serum Extracts of Lipidoses, Particularly of Tay-Sachs Patients

“…In one Spielm eyer-V ogt case th e serum show ed a b o u t tw ice th e norm al lysolecithin v a lu e ; in a second p a tie n t who w as in a m ore advanced stage and who died of th is disease, th e lysolecithin co n cen tratio n of th e serum was a b o u t 3 tim es th e norm al level. A p a tie n t w ith lipid sto rag e sy m p to m s show ed sim ilar findings as th e la tte r cases, while a ques tio n ab le m acu lar d eg en eratio n [8] w ith vacuolized ly m p h o cy tes [9] in the blood b eh av ed like tw o norm al controls. In 3 o th er n orm al in d iv id u als stu d ied for a n o th e r purpose we could ascertain th a t th ey show ed no ly solecithin a t serum co n cen tratio n s a t w hich th e T aySachs p a tie n ts show ed a positiv e lysolecithin reaction.…”

Vacuolized Lymphocytes in CNS Diseases with Special Reference to Amaurotic Familial Idiocy

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* In our form er com m unication [16] it was reported th a t 10 ''n o rm al" children did not show v. 1. in blood smears.

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“…Case X I and VI show both inclusion bodies. T he relation of inclusion bodies to various forms of am aurotic idiocy has been discussed before [16]. Case X X was not diagnosed as am au ro tic idiocy in lifetim e. Only the m ental deterioration and tlic v. 1. aroused suspicion.…”