[A diagnosis paved with good intentions!].
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Biomedical subjects
Publications and source records attributed to F Roy-Peaud.
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CONTEXT: The association of a systemic disease (SD) and a myelodysplastic syndrome (MDS) may not be a coincidence. We report 14 cases. METHODS: A retrospective study was conducted in patients presenting with an MDS, hospitalised between 1989 and 1999, in the search for a concomitant systemic disease. RESULTS: Ninety-seven patients, 61 men and 36 women, with a mean age of 74 +/- 11 years suffered from an MDS and 14 of them a concomitant SD: one nodular periateritis, 2 systemic vascularitis, 2 cutaneous vascularitis, 2 atrophic polychondritis, 4 Gougerot-Sjogrën syndrome, 2 systemic lupus and one cutaneous lupus. The systemic disease did not appear to influence survival. CONCLUSION: It is possible that the association is not a coincidence and therefore an MDS should be searched for when confronted with an SD, so that treatment may be adapted appropriately.
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Acute intermittent porphyria, the most commun acute porphyria in France, is an autosomal dominant disorder of heme biosynthesis. The basic biochemical defect is reduced activity of the enzyme porphobilinogen deaminase. Clinical evolution is characterized by acute attacks, with a severe prognosis due to acute abdominal pain and risk of neurological complications, induced by drug intake, infection, alcohol intake or unknown factors. We report the case of a patient with an inappropriate antidiuretic secretion syndrome and secondary hyperaldosteronism associated with acute intermittent porphyria and polyradiculoneuritis syndrome. This syndrome was found to be induced a delayed reaction to thiopental. A favorable response was achieved with heme-arginate treatment.