[Thymic and parathyroid agenesia (DiGeorge's syndrome). Apropos of a case with abnormal vena caval return]. / L'agenesie thymique et parathyroidienne (syndrome de Di George). A propos d'un cas comportant un retour veineux cave anormal

A child with a complete absence of thymus and parathyroids (Di George's syndrome) associated with a cardiac malformation (truncus arteriosus and abnormal caval venous return) is described ; the child died at the age of 1 month. An exchange-transfusion, performed at 4 days of age induced a mild graft versus host reaction which could only be recognized histologically and distorted the results of immunological tests. On this occasion, the main clinical, anatomical and immunological features of the Di George's syndrome are reviewed. They suggest a possible relationship between the severity of the cardiac malformation and the more or less complete character of the dysgenesia of the thymus and the parathyroids.

Human milk lacto-engineering. Growth nitrogen metabolism, and energy balance in preterm infants.

Fourteen 3-day metabolic balance studies were carried out in 8 healthy male preterm infants (birthweight 1 270 +/- 170 g, gestational age 30 +/- 2 weeks) fed 183 +/- 7 ml/kg/day of a human milk formula made of incompletely skimmed human milk enriched with lyophilized whole human milk, minerals, medium chain triglycerides and linoleate. Daily intakes per kilo bodyweight were for protein 3.5 +/- 0.3 g, fat 7.0 +/- 2.1 g, and energy 573 +/- 88 kJ (137 kcal). Weight gain was 29 +/- 5 g per day and nitrogen retention was 317 +/- 52 mg/kg/day. Fat absorption was 76 +/- 12%. Renal acid and solute loads were low and there was no metabolic acidosis, hyperazotemia or hyperaminoacidemia, except for tyrosine. It is concluded that preterm infants fed a human milk formula have similar growth rates and nitrogen retentions as foetuses in utero or preterm infants fed their own mother's milk.

[Cataract due to galactokinase deficiency in a premature infant]. / Cataracte par déficit en galactokinase chez un prématuré

Report of a case of galactosemia due to galactokinase deficiency. The author recalls the clinical (opacity of the lens) and biological features (important galactosuria, gallactiloluria, normal aminoaciduria, minimal hyperglycemia following galactose load). Since symptoms of increased intracranial pressure were present in this case, as in another one previously described, the commonly accepted statement that cataract is the only lesion in galactokinase deficiency must be reconsidered.

[Bronchopulmonary dysplasia]. / Dysplasie broncho-pulmonaire.

A retrospective study of 2 125 preterm infants, who were ventilated at the Institut de Puériculture in Paris over 9 years (1974-1982) for respiratory distress at birth, showed that 45 (2%) developed clinical and radiological bronchopulmonary dysplasia (BPD): 8 minimal forms, 23 moderate forms and 14 severe forms, 30 of these patients survived (66%). The pathogenesis of this chronic respiratory disease is multifactorial: oxygen + pressure + duration + endotracheal intubation. Efforts should be made to limit the damaging effect of each of these factors, which should be kept down to the minimum values compatible with adequate oxygenation. The presence of emphysema and of a patent ductus arteriosus has also been incriminated, but they may reflect the severity of the initial lung lesion. Rickets, whose incidence was found to be 27%, majors respiratory distress. In the ensuing months, babies with BPD are susceptible to recurrent viral or bacterial respiratory tract infection, failure to thrive and cor pulmonale. The presence of the mother and the care of a psychomotor development specialist are needed for these infants who will be confined for months in conditions which are unsuited to their sensory, physical, emotional and cognitive development.