[Glucocorticoid-induced hypertrophic cardiomyopathy in premature infants: apropos of 4 cases]. / Myocardiopathie hypertrophique induite par les glucocorticoïdes chez le prématuré: à propos de quatre cas.

BACKGROUND: The steroidal treatment used to prevent bronchopulmonary dysplasia (BD) in the preterm babies may be the cause of several complications, one of them being hypertrophic cardiomyopathy. CASE REPORT: Four infants developed hypertrophic cardiomyopathy during glucocorticoid (dexamethasone and/or betamethasone) treatment for bronchopulmonary dysplasia. In one of them, septal hypertrophy led to left ventricular outflow tract obstruction and congestive heart failure. All four were premature infants born after 2 weeks of gestation and weighing 780 to 1,080 g. The first echocardiographic changes appeared between the 4th and 15th day of the glucocorticoid course when the cumulated dose was respectively 1.82-1.87-3.51 and 3.86 mg/kg. Hypertrophic cardiomyopathy resolved completely between 2 and 4 weeks after cessation of the treatment. CONCLUSION: The glucocorticoid dosage to prevent BD should be reduced to 0.3 mg/kg/j and the myocardial function should be monitored by repeated echocardiograms during the first 15 days of treatment.

The A985 to G mutation of the medium-chain acyl-CoA dehydrogenase gene and sudden infant death syndrome in Normandy.

Medium-chain acyl-CoA dehydrogenase deficiency is the most common genetic defect of hepatic fatty acid oxidation. Clinical signs are somnolence and lethargy potentially leading to coma. Death occurs during the first attack in about 20% of cases, suggesting sudden infant death syndrome. A point mutation (adenine to guanine at position 985) in exon 11 of the medium-chain acyl-CoA dehydrogenase gene accounts for 90% of medium-chain acyl-CoA dehydrogenase deficiency-causing alleles. Such a high prevalence of a single mutation makes it possible to estimate the incidence of medium-chain acyl-CoA dehydrogenase deficiency in the general population and in sudden infant death syndrome. The study was performed by polymerase chain reaction amplification from blood spots on filter paper in 2000 randomly selected newborns (group I) and in 225 infants dead from sudden infant death syndrome (group II). Among 2000 newborns, 17 were found to be heterozygote for the G985 mutation. In group II, one child was found with a single copy of the G985 mutation. So, the estimated frequency of the G985 mutation in the general population was 1/118 and the incidence of medium-chain acyl-CoA dehydrogenase deficiency was calculated as around 1/45,000 in Normandy.

[Screening of A985 to G mutation of medium-chain acyl-CoA dehydrogenase (MCAD) gene in Normandy. Evaluation of the role of MCAD deficiency in sudden infant death]. / Dépistage de la mutation A985-->G du gène de la medium-chain acyl-CoA deshydrogénase (MCAD) en Normandie. Evaluation du rôle du déficit en MCAD dans la mort subite du nourrison.

MCAD deficiency is recognized as the most common hereditary defect of hepatic fatty acid oxidation. Clinical signs are somnolence progressing to lethargy potentially leading to coma. Death is the outcome of the first attack in about 20% of cases, suggesting sudden infant death syndrome (SIDS). A point mutation (adenine to guanine at position 985) in exon 11 of the MCAD gene represents 90% of alleles causing MCAD deficiency. The high prevalence of this mutation allows the estimation of the incidence of MCAD deficiency in the general population and in SIDS. The study was performed after PCR amplification from blood spots on filter paper in 1,432 randomly selected newborns (group I), in 225 SIDS (group II) and in 47 infants of SIDS family (group III). In group I, 10 newborns were found to have the G985 mutation in the heterozygous form. In group II, among 225 SIDS cases, the G985 MCAD mutation was found once in the heterozygote state. In group III, the mutation was not found. The estimated frequency of the mutation was 1/143 in the reference group and the incidence of MCAD deficiency was calculated as 1/67,000 in Normandy.

[Cerebral arteriovenous malformations in a probable familial form of Rendu-Osler disease]. / Malformations artério-veineuses cérébrales dans une probable forme familiale de maladie de Rendu-Osler.

Cerebral arteriovenous malformations with neonatal manifestations are infrequent and virtually always fatal. Heart failure with an intracranial bruit is the most common presentation. Exceptionally, the aneurysm is a manifestation of Rendu-Osler-Weber syndrome which is inherited on an autosomal dominant basis. Development of cerebral arteriovenous malformations occurs very early as demonstrated by the discovery of two aneurysms with major repercussions on the cerebral parenchyma in a female with severe prematurity. Pregnant women with suspected Rendu-Osler-Weber syndrome should undergo ultrasound studies targeted at identifying untreatable cerebral lesions antenatally.

[Unusual cause of neonatal hemorrhage: congenital cutaneous aplasia of the vertex]. / Une cause inhabituelle d'hémorragie néonatale: l'aplasie cutanée congénitale du vertex.

We report on a case of familial congenital scalp defect with fetal bleeding during labor. The authors emphasize the frequency of familial forms and the potential risk of such abnormalities during labor's monitoring. Treatment and classification are reviewed. The prognosis is good, as shown by the mother's case 27 years later.

[Moebius syndrome with pharyngo-laryngeal paralysis in a premature infant]. / Syndrome de Moebius avec paralysie pharyngo-laryngée chez une prématurée. Difficultés du diagnostic et de la prise en charge néonatale.

A case of Moebius syndrome in a premature baby is reported. After a phase of neonatal severe respiratory distress syndrome, the baby presented with a persistent facial paralysis, already present at birth and inability to close the eyes (also present in her father), without ophthalmoplegia. An unusual pharyngeal and laryngeal paralysis was also present: it led to tracheal intubation then tracheostomy and gastrostomy. CT scan at 15 months of age showed hypoplasia of brain stem. The difficulties of managing bulbar paralysis in such a premature baby are emphasized.

[Early myoclonic encephalopathy. Delimitation of the syndrome in view of genetic counseling]. / Encéphalopathie myoclonique précoce. Essai de délimitation du syndrome en vue d'un conseil génétique.

Early myoclonic encephalopathy is a rare neurologic disease of unknown etiology whose course is always quickly unfavorable. Clinical features include lack of mental development and myoclonic jerks which appear during the neonatal period. There are no biological abnormalities but EEG shows a pattern of suppression-burst. In the spectrum of neonatal epileptic encephalopathic syndromes, it is important to distinguish this syndrome from non-ketotic hyperglycinemia and Ohtahara' syndrome. Two new familial cases authors to emphasize on the difficulty of nosological delineation of these syndromes. However it is necessary to delimit this disease for a genetic purpose.

[Neonatal nemaline myopathy with favorable outcome]. / Myopathie à bâtonnets de découverte néonatale et d'évolution favorable.

A case of neonatal nemaline myopathy without respiratory distress is reported in a neonate. Its relatively benign course allowed survival without major complications. The discovery of a "central core disease" myopathy in her asymptomatic father confirms the relation between both entities.

[Hemorrhagic colitis in newborn infants. Apropos of 32 cases]. / La colite hémorragique du nouveau-né. A propos de 32 cas.

The authors report 32 cases of neonatal hemorrhagic colitis observed during a 19-mth period in the neonatal unit of the University Medical Center of Caen. Neonatal hemorrhagic colitis is characterized by rectal bleeding alone occurring mostly in premature infants. There are no accompanying clinical, biological or radiological signs of necrotizing enterocolitis. The evolution is always benign without any particular therapy. Prematurity and cesarean section appear to be the most important etiological factors. The pathogenesis is probably multifactorial. The differential diagnosis with necrotizing enterocolitis is difficult in the beginning.

Treatment of caffeine intoxication by exchange transfusion in a newborn.

The symptoms of acute poisoning after accidental administration of ten times the usually prescribed dosage of caffeine in a premature infant included the following neurological signs: incessant tremors, hypertonia, continuous opisthotonos posture, whining and crying and digestive disturbances. The very high serum caffeine levels, 160 mg/l, determined 66 hours after the first administration was confirmed by the very high cerebrospinal fluid caffeine concentration 115 mg/l. Two exchange transfusions performed at an interval of 16 hours produced a large decrease in serum caffeine levels of approximately 40 mg/l each time, and a similar decrease in the cerebrospinal fluid concentration. The clinical status of the infant improved very rapidly and the child's psychomotor development was normal at 3 months of age.

[Refractory hypoxemia in the newborn. Treatment with tolazoline]. / Hypoxémie réfractaire chez le nouveau-né. Traitement par la tolazoline.

Persiting pulmonary arterial hypertension, whether secondary to known lung disease or apparently idiopathic, may induce refractory hypoxaemia in the newborn. Tolazoline, pulmonary vasodilator of choice here, was used to treat this syndrome in 13 newborns. Therapeutic indications, precautions and possible side-effects are discussed.