[A familial case of Thomsen's disease with early onset].
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Biomedical subjects
Publications and source records attributed to J Manassero.
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Since January 1986, the authors have examined twenty infant HIV positives. In two cases specially, some serious and precocious ophthalmic lesions have been found : an ophthalmic zona appeared at the age of three months, a cytomegalovirus retinitis diagnosed at the age of six months. From this series, the particularities of the HIV infection by maternal-fetal transmission are discussed.
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A new case of Hermansky-Pudlak syndrome is reported. Clinical, ophthalmological, hematological and dermatological explorations are all described in detail, with emphasis placed on the risks of non-recognition of the syndrome. The ocular albinism is associated with a cutaneous syndrome of highly variable expression and a thrombopathy generally without frank clinical consequence. The quasi spontaneous meningeal hemorrhage noted in this case is unusual. Literature data on this syndrome is reviewed and its main features are described.
Authors report one case of HENOCH-SCHONLEIN syndrome particular by the association of two serious complications of good prognosis: neurological signs with coma and necrosing enteritis necessitating an intestinal resection of 60 cm of small bowel.
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