[Congenital transient leukemia: a case report]. / Un cas de leucémie congénitale transitoire.

UNLABELLED: Neonates with Down's syndrome have an increased risk for congenital leukaemia, particularly acute megakaryoblastic leukaemia (FAB, M7) which most often resolves spontaneously and is called transient leukaemia. It can be observed in non-constitutional trisomy 21 infants then presenting trisomy 21 on blasts cells. OBSERVATION: We report a transient leukaemia with an isolated pericardial effusion in a phenotypically normal neonate. Trisomy 21 was found on blasts cells. Complete remission remains after 32 months. DISCUSSION: Congenital leukaemias, with trisomy 21 on blasts cells have a good prognosis that justifies observation before using chemotherapy.

[Perinatology for the pediatrician]. / Périnatologie pour le pédiatre praticien.

From the standpoint of the pediatrician, the new knowledges in perinatology allowed progresses in certain fields (identification of high risk pregnancies, decrease in perinatal mortality, decrease of major handicaps in high risk newborns). However, the new knowledge's did not improve the rate of preterm deliveries. Some aspects of antenatal and intrapartum fetal assessment as well as the postnatal evaluation of the newborn will be discussed. The figures and tables summarize data directly linked to the practitioner's every day's concerns.

Severe transient neonatal lactic acidosis during prophylactic zidovudine treatment.

Zidovudine (ZDV) treatment during pregnancy, delivery and the postnatal period is effective in reducing the maternal-infant transmission of the human immunodeficiency virus. Reported adverse effects in the neonate during this longterm treatment are bone marrow suppression and elevation in aspartate aminotransferase activity. We report a case of severe ZDV-associated lactic acidosis in a neonate, which resolved rapidly following discontinuation of ZDV. The mechanisms leading to this side effect are poorly understood.

Energy-nitrogen balances and protein turnover in small and appropriate for gestational age low birthweight infants.

The aim of the present study was to compare, under the same nursing conditions, the energy-nitrogen balance and the protein turnover in small for gestational age (SGA) and appropriate for gestational age (AGA) low birthweight infants. We compared 8 SGA's (mean +/- s.d.: gestational age 35 +/- 2 weeks, birthweight 1520 +/- 330 g) to 11 AGA premature infants (32 +/- 2 weeks, birthweight 1560 +/- 240 g). When their rate of weight gain was above 15 g/kg/d (17.6 +/- 3.0 and 18.2 +/- 2.6 g/kg/d, mean postnatal age 18 +/- 10 and 20 +/- 9 d respectively) they were studied with respect to their metabolizable energy intake, their energy expenditure, their energy and protein gain and their protein turnover. Energy balance was assessed by the difference between metabolizable energy and energy expenditure as measured by indirect calorimetry. Protein gain was calculated from the amount of retained nitrogen. Protein turnover was estimated by a stable isotope enrichment technique using repeated nasogastric administration of 15N-glycine for 72 h. Although there was no difference in their metabolizable energy intakes (110 +/- 12 versus 108 +/- 11 kcal/kg/d), SGA's had a higher rate of resting energy expenditure (64 +/- 8 versus 57 +/- 8 kcal/kg/d, P less than 0.05). Protein gain and composition of weight gain was very similar in both groups (2.0 +/- 0.4 versus 2.1 +/- 0.4 g protein/kg/d; 3.5 +/- 1.1 versus 3.3 +/- 1.4 g fat/kg/d in SGA's and AGA's respectively). However, the rate of protein synthesis was significantly lower in SGA's (7.7 +/- 1.6 g/kg/d) as compared to AGA's (9.7 +/- 2.8 g/kg/d; P less than 0.05). It is concluded that SGA's have a more efficient protein gain/protein synthesis ratio since for the same weight and protein gains, SGA's show a 20 per cent slower protein turnover. They might therefore tolerate slightly higher protein intakes. Postconceptional age seems to be an important factor in the regulation of protein turnover.

Energetic and metabolic cost of growth in Gambian infants.

The aim of the study was to measure the energy used for growth of healthy fullterm and breast-fed Gambian infants. The weight gain (WG) of 14 infants (mean age +/- SEM 17 +/- 1 d, weight 3.581 +/- 0.105 kg) was measured over a 2-week period; the energy intake (EI) from breast milk was assessed for 24 h in the middle of the study period by weighing the infant before and after each breast-feed. On the same day, sleeping energy expenditure (SEE) and respiratory quotient (RQ) were measured for 30 min on five occasions through the 24-h period. EI averaged 502 +/- 25 kJ/kg.d, and SEE 230 +/- 6 kJ/kg.d; thus, an average of 272 kJ/kg.d were available for physical activity and the energy stored for growth. The total energy spent by infants while sleeping and for periods of physical activity was calculated to be 1.7 x SEE. The mean RQ measured on five occasions averaged 0.879 +/- 0.009. SEE was correlated with WG (r = 0.747, P less than 0.005), with a slope of the regression line of 5.5 kJ/g; this value can be considered as an estimate of the energy spent for new tissue synthesis in the resting infant. The efficiency of weight gain was lower in this study (67%) than in studies conducted on fast-growing preterm infants or children recovering from malnutrition.

Magnesium sulphate as an alternative and safe treatment for severe persistent pulmonary hypertension of the newborn.

Eleven newborns admitted consecutively to the neonatal unit with respiratory failure and severe persistent pulmonary hypertension (PPHN) were included in a clinical trial to assess the efficacy of magnesium sulphate (MgSO4) in the treatment of PPHN. A loading dose of 200 mg/kg MgSO4 was given over 20 minutes, followed by a continuous infusion of 20-150 mg/kg/hour to obtain a magnesium blood concentration between 3.5 and 5.5 mmol/l. Mean (SD) duration of treatment was 75.5 (19.8) hours. No other vasodilatory drug was administered before or during the treatment and patients were not hyperventilated. Mean (SEM) PaO2 values significantly increased from 42.6 (8.8) before treatment to 70.3 (24.1) mm Hg after 24 hours, with no change in pH or PCO2. Oxygen index and alveolar-arterial oxygen gradient (A-aDO2) were significantly lower after 24 hours; respectively, 46.8 (15.2) to 28.0 (9.0) and 624.3 (11.3) to 590 (58) mm Hg. Mean airway pressure could be significantly reduced from 19.5 (3.1) to 13.9 (3.9) cm H2O after 72 hours. Mean ventilatory time support was 131 hours and mean total oxygen dependency 10 days. No systemic hypotension nor any other adverse effect were noted. All infants survived and the neurodevelopmental assessment was normal at 6 and 12 months of age. It is concluded that magnesium sulphate is a non-aggressive and low-cost treatment of short duration which is easy to apply. It may have a role in the various treatment of PPHN.

An attempt to separate xiphopagus twins sharing a common heart, liver, and duodenum.

An attempt was made to separate 7-wk-old conjoined twins. It proved unsuccessful because of extensive cardiac malformations in the shared heart. Details of operation and postmortem findings are described.

Partial trisomy 20q in a newborn with dextrocardia.

A female newborn is reported with dextrocardia and a partial trisomy 20q, derived from a t(2;20) paternal translocation. The most discriminating findings of the condition include brachycephaly, bulging forehead, deep set eyes, short nose, large ears, dimpled chin, short neck and a heart defect. Previously reported patients with this rare chromosomal anomaly are reviewed.

Water, energy and early postnatal growth in preterm infants.

Non-invasive methods, including stable isotope techniques, indirect calorimetry, nutritional balance and skinfold thickness, have given a new insight into early postnatal growth in neonates. Neonates and premature infants in particular, create an unusual opportunity to study the fluid and metabolic adaptation to extrauterine life because their physical environment can be controlled, fluid and energy balance can be measured and the link between metabolism and the energetics of their postnatal growth can be assessed accurately. Thus the postnatal time course of total body water, heat production, energy cost of growth and composition of weight gain have been quantified in a series of "healthy" low-birth-weight premature infants. These results show that total body water is remarkably stable between postnatal days 3-21. Energy expenditure and heat production rates increase postnatally from mean values of 40 kcal/kg/day during the first week to 60 kcal/kg/day in the third week. An apparent energy balance deficit of 180 kcal/kg can be ascribed to premature delivery. The cost of protein metabolism is the highest energy demanding process related to growth. The fact that nitrogen balance becomes positive within 72 h after birth places the newborn in a transitional situation of dissociated balance between energy and protein metabolism during early postnatal growth: skinfold thickness, dry body mass and fat decrease, while there is a gain in protein and increase in supine length. This particular situation ends during the second postnatal week and soon thereafter the rate of weight gain matches statural growth. The goals of the following review are to summarize data on total body water and energy metabolism in premature infants and to discuss how they correlate with physiological aspects of early postnatal growth.

[Parents' recollection of the initial announcement of hemophilia in children]. / Vécu parental de l'annonce du diagnostic d'hémophilie chez l'enfant.

UNLABELLED: Discovering chronic illnesses in children initially shatters the family balance and triggers emotional reactions. PATIENTS AND METHODS: We retrospectively report parents' experiences and emotional reactions to learning the diagnosis of hemophilia in their children. Twenty-six parents (18 mothers, 8 fathers) of 24 hemophiliac A or B children (major n=8, moderate n=6, mild n=10), aged from 0 to 18 years, were individually asked to answer a separate questionnaire for each child during a systematic consultation. We obtained 29 completed questionnaires. RESULTS: The diagnostic circumstances were a major bleeding episode (n=8), frequent hematomas (n=4), preoperative blood sample (n=4), and familial screening (n=8). In 9 cases, both parents were informed of the diagnosis at the same time and in 13 cases, the mother was alone. The most frequent feelings were future apprehension (n=20), initial shock reaction (n=18), anxiety (n=12), and guilt (n=10) expressed by mothers only. Parents' emotional states were neither correlated with the severity of the disease nor with the diagnostic circumstances. All parents questioned reported being satisfied with the quality of the initial information. CONCLUSION: The crisis generated by learning the diagnosis of a chronic disease in their children warrants delivering initial information to both parents at the same time, especially in hemophilia since mothers tend to be more concerned.

Protein metabolism and postnatal growth in very low birthweight infants.

Due to the development of new 'bedside' investigative methods, relatively abstract physiologic concepts such as energy cost of growth, efficiency of protein gain, metabolic cost of protein gain and protein turnover have been quantified in very low birthweight infants. 'Healthy' premature infants expend about 30% of their energy to cover the metabolic cost of growth. Stable isotope techniques using 15N-(or 13C)-labeled amino acids gave a new insight into this very high energy demanding process represented by the protein accretion in growing tissues. It has been demonstrated that the rate of protein synthesis (10-12 g/kg/day) greatly exceeds that necessary for net protein gain (2 g/kg/day). The postnatal growth and protein metabolism have different characteristics in 'healthy', 'sick' or 'intrauterine undernourished' very low birthweight infants.

Ocular and orbital complications after sclerosing injections in a case of a frontal cutaneous angioma.

A baby is treated for frontal cutaneous angioma by two sclerosing injections, the second injection giving rise to severe complications and life-long sequelae: total amaurosis of the right eye with eventual bulbar phthisis, sectorial iris necrosis and cataract formation, as well as ugly sunken cutaneous scarring of the right upper eye-lid, forehead and scalp. It is the only case we know of, where such complications occurred after craniofacial angioma treatment by sclerosing injections.