Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.

The phenotype of mosaic variegated aneuploidy (MVA) syndrome is characterized by severe microcephaly, growth deficiency, mental retardation, and mild physical anomalies. The MVA syndrome is associated with mosaicism for several different aneuploidies involving many different chromosomes with or without premature centromere division (PCD). To date 28 cases of MVA syndrome have been reported. We report the first case of MVA syndrome without microcephaly. The clinical features in our patient included craniofacial dysmorphic features, growth retardation, and developmental delay. Cytogenetics analyses and FISH studies showed multiple aneuploidy with trisomy 18, 19, and 8, respectively in blood lymphocyte and fibroblasts without PCD. This case is compared with the other of MVA syndrome previously reported in literature. From this case report, we suggest that microcephaly is not mandatory for the diagnosis of MVA syndrome.

[Necrotizing tracheobronchitis in ventilated newborn infants]. / Trachéobronchite nécrosante chez le nouveau-né ventilé.

BACKGROUND: Necrotizing tracheobronchitis is a severe complication observed in some mechanically ventilated neonates. CASE REPORT: A twin premature (GA = 31 weeks), weighing 1,500 g required oral endotracheal intubation for mechanical ventilation because he suffered from respiratory distress syndrome. He was given indomethacin on day 4 for patent ductus arteriosus. Progressive weaning of ventilation on day 9 was dramatically complicated by hypoxia, respiratory acidosis and right pneumothorax. Immediate endoscopy showed total obstruction of trachea by necrotic secretions the suction of which was followed by rapid improvement of the respiratory condition. Bacterial examination of secretions showed coagulase-negative staphylococcus. The patient was given steroids + antibiotics. Prolonged ventilation resulted in bronchopulmonary dysplasia and the patient was only extubated at week 12 after a normal endoscopic control. CASE REPORT: A premature girl (GA = 32 weeks), weighing 1,800 g required oral endotracheal intubation for mechanical ventilation because she suffered from respiratory distress syndrome. The respiratory condition worsened on day 3, requiring tracheography which showed distal tracheal obstruction. Immediate endoscopy showed thin, adherent and necrotic membranes which were removed by suction. The patient was given steroids +antibiotics and was extubated on day 14 after a normal endoscopic control. CONCLUSIONS: This iatrogeneous complication must be recognized in a ventilated infant when the respiratory condition dramatically worsens. Emergency bronchoscopy permits endotracheal suction of necrotic secretions.

[Use of tissue plasminogen activator in the treatment of aortic thrombosis in newborn infants]. / Utilisation de l'activateur tissulaire du plasminogène (tPA) dans le traitement des thromboses aortiques du nouveau-né.

BACKGROUND--Aortic thrombosis is more frequent since the use of umbilical artery catheters in neonatal intensive care units. Some drugs or surgery are proposed to prevent complications; experience with tissue plasminogen activator (tPA) is still limited. CASE REPORT NO 1--A neonate, weighing 2400 g, developed respiratory distress requiring insertion of a catheter into her umbilical artery at H12. Ultrasonography on day 3 showed aortic thrombosis extending to the right renal artery which was confirmed by angiography. tPA 0.1 mg/kg was administered through the catheter, followed by 0.3 mg/kg/h for 3 hours and heparin, 100 IU/kg/hour for 54 hours. Angiography, performed 18 hours later, showed complete disappearance of the thrombosis. CASE REPORT NO 2--A neonate, weighing 2520 g suffered at 12 hours of life from seizures, apnea and bradycardia which required insertion of a catheter into her umbilical artery. Cyanosis of the right leg with weakening of femoral pulsations, 14 hours later, lead to the diagnosis of aortic thrombosis which was confirmed by aortography. The patient was given tPA 0.1 mg/kg followed by 0.3 mg/kg/h for 3 hours and heparin 100 IU/kg/hour for 6 hours. Amplitude of femoral pulsations strikingly increased within 6 hours with the disappearance of cyanosis. CONCLUSION--These results suggest that tPA can be useful in neonates presenting with aortic thrombosis.

[Removal of amino acids by continuous hemofiltration and hemodiafiltration]. / Epuration des acides aminés par hémofiltration et hémodiafiltration continues.

BACKGROUND: Continuous hemodiafiltration is potentially more efficient than hemofiltration for removing low molecular metabolites. CASE REPORT: A newborn (2100 g) was admitted suffering from acute distress with statuts epilepticus, liver failure with generalized hyperaminoacidemia, hypoglycemia and oligo-anuria. Peritoneal dialysis, performed on the 17th day of life, was ineffective and the patient was treated by continuous hemofiltration alternating with hemodiafiltration. Clearance of amino-acids was studied for 15 minutes under each technique. The amino-acid concentrations were measured in the infused fluid and in the ultrafiltrate. The baby died on the 20th day despite this treatment. RESULTS: Amino acid clearance by hemodiafiltration was 181 +/- 176% greater than by hemofiltration. The mean improvement for all amino acids was 148%, with extremes of +43% for citrulline and 941% for glutamic acid. CONCLUSION: Continuous hemodiafiltration is an efficient method of removing amino acids; it could be used to treat severe inborn errors of metabolism such as leucinosis.

[Anesthesia for lithotripsy]. / Anesthésie pour lithotritie.

Extracorporeal shock wave lithotripsy has become the standard method of treating renal stone disease. The appropriate choice of anaesthetic technique depends on the shock wave technic mode. Recent modifications of lithotriptors have reduced the physiological consequences of the procedure and most often these treatments can be performed without local or general anaesthesia. However, some sedation/analgesia may be necessary and a good knowledge of anaesthesia for lithotripsy remains most useful so as to meet any particular requirements.

[Hemorrhagic shock with encephalopathy syndrome or major hyperthermia syndrome?]. / Syndrome de choc hémorragique avec encéphalopathie ou syndrome d'hyperthermie majeure?

A five month-old infant presented with gastro-intestinal symptoms followed by a multiple organ failure with: shock, status epilepticus, disseminated intravascular coagulation, hepatic and renal failure. The infant survived with major neurological sequelae. The diagnosis and the actuality of the so-called "hemorrhagic shock and encephalopathy syndrome" are discussed.

[Vertex spikes in newborn infants in acute cerebral anoxia. Prognostic value]. / Les pointes au vertex chez le nouveau-né en anoxie cérébrale aiguë. Intérêt pronostique.

The authors report 10 cases of newborns with neonatal hypoxic encephalopathy and presence of spikes in the vertex area on EEG. Evolution was characterized by the onset of a spastic paraparesy with frontal atrophy on CT scan examination and disappearance of the spikes after 2 months of age. This graphic pattern is usually absent in neonatal anoxic encephalopathy. Vertex spikes thus appear to have a prognostic value in neonates with brain anoxia.

[Neonatal kidney insufficiency and intrauterine exposure to ketoprofen]. / Insuffisance rénale néonatale et exposition intra-utérine au kétoproféne.

An acute kidney failure (AKF) was present at birth in a 28 week-old premature infant exposed in utero to ketoprofen during the last 4 days of pregnancy. Usual causes of AKF were not identified. Thus, AKF might be due to a ketoprofen-induced impairment in renal prostaglandin synthesis.

[Feasibility and acceptability of insulin therapy using a pen suitable for injecting regular or intermediate insulin. Results of the French multicenter study conducted by the Optipen-France Study Group]. / Faisabilité et acceptabilité d'une insulinothérapie par stylo à injection d'insuline ordinaire et/ou intermédiaire. Résultats de l'étude multicentrique française groupe d'etude Optipen-France.

Most of the commercially available insulin-pens are only suitable for regular insulin and have to be used in combination with syringe injections of long-acting insulin preparations. The aim of the french multicentric study is to estimate the clinical interest of a new insulin-pen (Optipen-Hoechst) with two main characteristics: the ability of a predetermination of the insulin dosage to be administered and the suitability for both regular, intermediate and pre-mixed regular (25%) and intermediate (75%) Hoechst insulin preparations. This new pen can so be used alone in all insulin regimen, consisting only of regular and/or intermediate insulin injection. Ninety five insulin treated patients, with at least two daily injections of these kinds of insulin, have been selected injection in a 8 weeks follow up study: After been included they were treated for two weeks by syringe injections of Hoechst insulin solutions (U40), equivalent to the former insulin preparations. Optipen was then used during 4 weeks to inject similar U100 insulin solution, without any other changes in diet and home blood glucose monitoring. Metabolic control was assessed by glycemic measurements, fructosamine and glycosylated hemoglobin determinations and remained unchanged all over the study. The acceptability of pen-treatment was excellent since 95% of the population decided not to return to syringe injections at the end of the study. Injections by mean of an Optipen are more convenient at home as well as outside. Further long term randomized studies are necessary to definite the clinical indications for Optipen use in insulin treated patient.

Pharmacokinetics of cefotaxime in preterm infants.

Pharmacokinetic parameters of cefotaxime (CTX) and its metabolite desacetylcefotaxime (DCTX) were assessed on the 3rd day of treatment in 10 preterm infants (28-37 weeks gestation) aged 3-8 days and receiving 25 mg/kg CTX twice daily. Blood samples were collected from an umbilical artery catheter at 0, 0.08, 0.25, 0.5, 0.75, 1, 2, 4, 8, 12 h after a short peripheral infusion (5 min) and were assayed by high-performance liquid chromatography. During the 12 h following the CTX infusion, serum concentrations of CTX remained above the mean bactericidal concentration for pathogens commonly isolated during the neonatal period. The mean (+/- SD) elimination half-life, volume of distribution, total body clearance and area under the serum concentration-time curve (AUC0-12 h) for CTX were: 3.68 +/- 1.48 h (range: 1.89-6.82), 431 +/- 149 ml/kg (219-636), 1.57 +/- 0.80 ml/kg/min (0.60-3.27) and 373 +/- 206 micrograms/ml/h (170-867), respectively. The AUC0-12 h for DCTX was 170 +/- 93 micrograms/ml/h (61-374). A significant inverse relationship was found between gestational age and the elimination half-life of CTX, and the AUC of both CTX and DCTX.

[Nosocomial Staphylococcus epidermidis and Staphylococcus aureus septicemias in neonates]. / Septicémies nosocomiales à staphylocoques epidermidis et aureus chez le nouveau-né.

Sixteen neonates developed staphylococcal septicemia (S. epidermidis in 10 cases and S. aureus in six). Two infections were due to maternofetal contamination and four to contaminated foreign material. Clinical symptoms included non-specific evidence of neonatal bacterial infection and, in S. aureus infections, suggestive skin or bone localizations. Fifteen patients recovered without sequelae and one died as a result of S. aureus septicopyemia. In view of the patterns of resistance to antimicrobial agents exhibited by S. aureus and S. epidermidis, the vancomycin-amikacin combination seems the most appropriate treatment in neonatal staphylococcal septicemias. However, the fosfomycin-cefotaxim combination can be proposed for the treatment of staphylococcal infections with osteoarticular or meningeal involvement.

[Posthemorrhage porencephalic cysts in the neonatal period. Diagnosis. Etiology. Development. Value of transfontanellar echography]. / Les kystes porencéphaliques post-hémorragiques de la période néonatale. Diagnostic. Etiologie. Evolution. Intérêt de l'échographie transfontanellaire.

Cerebral echotomography interest in showing neonatal cerebral hemorrhage and their follow up toward porencephaly is pointed out in 4 neonates. The authors recall the electroencephalographic features which can lead to the diagnosis. Then, they insist upon a new concept which is the long delay between onset of the cyst and onset of hemiplegia. The rationnal for this concept is the gradual maturation of the pyramidal tracts in infancy.

[Epileptic apneas in the neonatal period]. / Les apnées épileptiques en période néonatale.

On the occasion of the reports of 6 cases, the authors summarize the clinical and electro-encephalographic features of apneic seizures, the value of polygraphic recordings to detect them, their poor prognosis and the contra-indication of xanthine treatment.