Alice Lageron

A new human pathology with visceral accumulation of long-chain n-alkanes; tissue distribution of the stored compounds and pathophysiological hypotheses

This report deals with a new human disorder characterized by the accumulation of plant long-chain n-alkanes in viscera of a human patient. Lipid analysis of tissues from an adult male after sudden death (affected with diffuse visceral granuloma containing lipophilic crystallized material) showed the presence of abnormal compounds identified as long-chain n-alkanes with 29 (n-nonacosane), 31 (n-hentriacontane) and 33 carbons (n-tritriacontane). Study of n-alkane distribution in patient tissues showed a major accumulation in lumbo-aortic lymph nodes, adrenal glands, lung (the highest levels were found in lung granulomas) and liver; significantly lower amounts were detected in myocardium and kidney, whereas no detectable level was found in brain. On the basis of the structural composition and of the tissue distribution of the accumulated n-alkanes, their dietary (plant) origin and the pathophysiological mechanism of the storage are discussed.

Étude histologique et histoenzymologique du foie II: Dans la lithiase vésiculaire traitée par l'acide chénodesoxycholique

Resume Les modifications histologiques et histoenzymologiques des foies de sujets lithiasiques traites par ACDC sont analysees par rapport a ces memes foies avant traitement. Le profil histologique de ces foies est peu modifie a part une augmentation de la frequence de la congestion sinusoidale. Par contre, de nombreuses «lesions» histochimiques sont corrigees par ce traitement.

Hepatoma after thorotrast: Morphological and autoradiographic data

Two women, respectively given thorotrast 30 and 40 years ago, died of hepatoma. The spleen and liver of one and the liver of the other were studied by morphological, macro- and micro-autoradiographic methods. The part played by thorotrast in the neoplasic process and its effect on the mechanism of tumour induction are discussed.

Niemann Pick c or storage by excessive blood cell destruction: a case presenting a diagnosis problem.

A case of storage disease followed up during 12 a was studied by morphological, histochemical, immunological, and biochemical techniques. Data were analysed in an attempt to differentiate an acquired storage by excessive cell degradation from a storage of genetic origin. If, as it is our belief, a conclusion of acquired storage can be made, this observation in which the same cholesterol metabolism abnormalities as in Niemann Pick type C were seen, leads to a rediscussion of their diagnostic significance.

Visualization of the Sugar Moiety in Lymphoid Cell Lines from Fabry's Disease by Lectin Binding

Glycosphingolipid storage due to α-galactosidase deficiency (EC 3.2.1.22) characterizes the X-linked inherited Fabry’s disease (McKusick 30150). Accurate sugar moiety visualization obtained in kidney patients by lectin binding (Faraggiana et al., 1981; Lageron, 1987) prompted us to apply the same method to cell cultures. We chose to work on lymphoid cell lines (LC) obtained by Epstein-Barr virus transformation of lymphocytes, material often used in the study of genetic disease (Glade and Beratis, 1976), with the aim of determining what the lectin-binding method could bring to the knowledge of cell culture storage compared to other histochemical methods and whether modifications of the storage could be brought about by changes in the lipids in the culture medium.

Alkane Storage Disease (Very Long Chain N-Alkanes): An Original Type of Lipid Storage of Dietary Origin from Plant Wax Hydrocarbons

We have recently reported a unique case of a new type of lipid storage disorder (Duboucher et al., 1986; Rocchiccioli et al., 1987) which we have named Alkane Storage Disease. This novel human morbid entity is characterized by the visceral accumulation of odd-numbered long chain n-alkanes. These alkanes are characteristic of vegetal cuticular waxes and differ from those present in mineral oil paraffin (Lester, 1979; Levade et al., 1987). The nature of the stored compounds, their visceral distribution and the clinical anamnesis strongly suggest a dietary origin. We also discuss the hypothetical metabolic defect which may cause the n-alkane accumulation and the pathophysiological mechanism explaining their tissular distribution.

Increase in Sterol Synthesis and Decrease in Cholesterol Efflux in Niemann-Pick Disease Type C Fibroblasts

Niemann-Pick disease is an inborn error of metabolism characterized by a deficiency in sphingomyelinase activity and sphingomyelin storage in the A and B types. In the C type (NPC), cholesterol is often accumulated to a greater extent than sphingomyelin, and the primary defect is, at the present time, unknown. In previous studies, we pointed out close relationships between sphingomyelin and cholesterol metabolisms in human fibroblasts 1,2 and we demonstrated that NPC fibroblasts are able to degrade exogenous sphingomyelin3. We also suggested that in NPC disease, the primary defect could concern cholesterol rather than sphingomyelin metabolism2. Recently, a deficiency in cholesterol esterification has been described in NPC cells by Pentchev et al.4,5. In the present study, we investigated different aspects of cholesterol metabolism in 3 NPC patients fibroblasts: sterol synthesis, esterification and efflux.

Étude histoenzymologique d’un cas adulte de maladie de Gaucher

Resume Un fragment de rate provenant d’une forme chronique de maladie de Gaucher a ete explore par des techniques histochimiques. On retrouve la classique surcharge en cerebroside (reaction a la chloramine T-PAS positive, negativee par le methanol-chloroforme) et l’absence de β-glucosidase. Cependant un certain nombre de particularites sont relevees: association de MPS acides au materiel de surcharge lipidique, forte activite des enzymes de la voie des pentoses et de la glycolyse dans les cellules de surcharge.

Histoenzymological Study of One Case of Fabry Disease Before and After Transplantation

Fabry’s disease, a sex-linked inborn error characterized by the lysosomal alpha-galactosidase deficiency inducing a glycolipid storage presents a follow up closely related to renal function therefore, transplantation constitute the most valuable treatment when it is possible. It could be interesting to assess the degree of renal injury and to survey how the graft reacts with regard to the glycolipid storage. Histochemical study of kidney could bring up valuable data on these field.