[A case of trisomy 6-12].
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Biomedical subjects
Publications and source records attributed to P Monnet.
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A young patient, with alpha chain disease, is in good clinic condition, a little more than 4 years after the diagnosis. She received, during 1 year, antibiotics of tetracycline type, then antimitotics during 2 years. 9 months after antimitotics treatment was achieved, histologic signs remained unmodified, without evidence of degenerescence. Immunoelectrophoresis which was normal at the end of chemotherapy is always normal after 15 months without treatment.
Four boys are described who developed respiratory difficulties and broncho-pulmonary disease in the neonatal period. Three had situs inversus, and one situs ambiguus (Ivemark's syndrome). The symptoms continued for several months or years and in three children progressed to bronchiectasis. The other child is recovered. Two the children were brothers and a third sib. presented with bronchopulmonary disease at birth that continued for 17 months. He did not have situs inversus.
Generalized BCG infection can occur after vaccination in patients with a severe combined or T-cell immunodeficiency. In the reported case, generalized BCG infection developed in an infant with a severe combined immunodeficiency disease and presented mainly with hematological manifestations. This infection led to death of the patient in spite of an histocompatible bone marrow transplantation performed late in the course of the disease and followed by a minimal graft-versus-host reaction. Based on this case report and others from the literature, it is suggested that neonatal BCG vaccination should be performed after knowing at least the complete family history. Although the presented patient died, it should seem reasonable to treat such patients with an early immunological reconstitution and with anti-TB antibiotics.
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