[A case of convergent disjunctive nystagmus].
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Biomedical subjects
Publications and source records attributed to R Dumas.
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The case reported concerns a 12 year old boy, admitted in 1970 with a clinical picture evoking a malignant hemopathy: thrombocytopenic purpura, leukopenia, multiple lymphadenopathies, enlarged spleen and, at histological examination, lympho-reticular hyperplasia of the spleen and lymphe nodes, simulating at the beginning, a nodular lymphoma. Immuno-hematological investigations revealed a complex auto-immune picture, which concerned essentially hematopoiesis. In fact, the pseudo-tumoral aspect of lymphenodes, was related to a dysfunction of the immune system, the pathogeny of which is presently better known.
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A 9 year-old girl with congenital hypomyelination neuropathy is reported. Clinical features were delayed motor development, disturbances of gait, deep sensory defect, areflexia and mild distal palsy with claw feet. E.M.G. revealed dramatically diminished motor conduction velocities. C.S.F. protein was normal. Histological examination of the right sural nerve revealed a severe loss of myelinated fibers. On electron microscopy, poorly myelinated and large amyelinated axons were enclosed by normal Schwann cells and surrounded by multiple single or double layered basement membranes which were concentrically arranged in an onion bulb pattern. This case of congenital hypomyelination neuropathy is compared with ten similar cases in the literature.
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