High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP).

Phenotypic characterization of Diamond Blackfan Anemia (DBA) patients and their relatives was performed in 54 families. Complete blood count, fetal hemoglobin level, erythrocyte i antigen expression, and erythrocyte adenosine deaminase (eADA) activities were quantitated in patients and relatives. eADA was elevated in 28 of 34 transfusion-independent DBA patients, whereas persistence of erythrocyte i antigen was noticed in only 10 of 20 DBA patients. High eADA activities were also found in 14 of 149 healthy family members, allowing us to identify an isolated high eADA phenotype in these families. In contrast, increase in erythrocyte i antigen expression, elevated fetal hemoglobin levels, and macrocytosis were much less frequently noted in nonaffected members of the DBA families studied. Importantly, isolated high eADA phenotype was found to be significantly associated with genetic markers on chromosome 19 that segregate with the DBA phenotype. Isolated high eADA phenotype thus seems to reflect a silent phenotype of DBA in affected families. These findings suggest that elevated eADA activity in unaffected individuals needs to be taken into account during genetic assessment of DBA families and could be used for accurate assessment of mode of inheritance.

[Value and limits of selective bronchial obstruction in neonatal unilateral interstitial emphysema]. / Intérêt et limites de l'obstruction bronchique sélective dans l'emphysème interstitiel unilatéral néonatal.

BACKGROUND: Two methods of selective ventilation have been used for treating severe localized pulmonary emphysema in the neonates: controlateral selective intubation and selective bronchial obstruction. CASE REPORTS: Three neonates with acute respiratory distress required respiratory support that was complicated by development of severe localized pulmonary interstitial emphysema of the right lobe (two cases) and the middle lobe (one case). Selective bronchial obstruction with a Swann Ganz catheter SF was tentatively made: in one case, improvement was moderate and transitory, requiring middle lobectomy. The localized emphysema disappeared within 3 days in the two other cases but a localized emphysema appeared in the controlateral lung in one of them, requiring left inferior lobectomy because the ineffectiveness of selective intubation or selective obstruction. CONCLUSION: Selective bronchial obstruction may fail but this easy and well tolerated method should be tried in severe localized emphysema, specially in those patients who cannot be ventilated with high-frequency oscillation.

[Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis]. / Syndrome hémolytique et urémique néonatal, acidurie méthylmalonique et homocystinurie par déficit intracellulaire de la vitamine B12. Intérêt du diagnostic étiologique.

BACKGROUND: A hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria is seen during the first weeks of life. A molecular defect in the CbIC mutation has been found. This report describes a new case with this association. CASE REPORT: A girl, the second in this family, was born at term: her birth weight was 2,100 g, height was 47 cm and head circumference 31.5 cm. She was admitted at 32 days of age with hemolytic anemia and fragmencytosis, renal failure and thrombocytopenia. The renal failure required peritoneal dialysis followed by hemofiltration. The signs of pancytopenia of central origin and liver failure seen at that time raised the possibility of an intracellular defect of B12 metabolism. Chromatography of the amino acids and organic acids in the urine and plasma revealed homocystinemia, hypomethioninemia, homocystinuria and methylmalonic aciduria. The deficient B12 metabolism was confirmed in fibroblasts which showed deficits in both methyl and adenosyl-cobalamin synthesis. The metabolic disturbances were completely resolved after intravenous administration of hydroxy-cobalamin (2,000 micrograms per day) and folinic acid (25 mg per day) for 5 days. But the neurological abnormalities persisted, with retinitis pigmentosa and major leukodystrophic changes seen by MRI, and the infant died one month later. CONCLUSION: This new case emphasizes the importance of systematically screening all cases of neonatal hemolytic-uremic syndrome for this autosomal recessive disorder.