[On a case of Abt-Letterer-Siwe disease].
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Biomedical subjects
Publications and source records attributed to E Grassi.
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The Authors present two cases of unilateral and bilateral lesions of the femoral nerve and emphasize the frequency, the characteristics, the mechanisms and the course of such lesions.
The Authors, on the ground of the literature and of their own observations, stress the diagnostic non specificity of hypotrophic facio-scapulo-humeral syndromes: these sindromes, contrary to the current opinion, aren't always of primitive myodistrophic nature but may also be "neurogenic", inflammatory, collagenopathis, etc. In this connection they present an illustrative case of facio-scapulo-humeral syndrome which had clinical features typically "myogenic" but turned out to be "neurogenic" after electromyographic and histochemical investigation.
The AA., after a review cases of girls suffering from a muscular dystrophy like Duchenne, present two cases that they think to set in the same nosographical context. Even though they admit its extreme rarity and the possiblility that many cases previously published are controversial, they accept that Duchenne myodistrophic syndromes certainly occur in girls, even if their substantial nature remain uncertain.
On the light of previous reports on a possible correlation between echinocytogenesis and primitive muscular dystrophies, we have investigated the presence and time dependent development of echinocytes in the blood of normal subjects, patients and healthy carriers of D.M.D. A very few echinocytes are present in the fresh blood of all the patients and some carriers, but not in the blood of control normal subjects. With time, more echinocytes develop in all cases but much more markedly for sick people and carriers. These results might explain conflicting data on the echinocyte content in the blood reported in the literatura and provide a guideline for a correct analysis of the phenomenon and its possible relevance in the eugenetic diagnosis of carriers.
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