Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.

We report on a brother and sister with adrenal insufficiency due to isolated adrenocorticotropin hormone deficiency discovered in the neonatal period. The first-born, a male infant, died; pathological findings suggested bilateral adrenal hypoplasia transmitted as an autosomal recessive trait. Plasma estriol levels were assayed during the mother's next pregnancy. The prenatal diagnosis allowed immediate and effective management of the second affected child. The supplementary evidence from the endocrine findings, unavailable on her brother, enabled us to make a diagnosis of isolated central ACTH deficiency. As the defect was found in infants of both sexes in the same family, it is in all likelihood transmitted as an autosomal recessive trait. We consider it important for genetic counselling to perform autopsies on all newborn infants whose death has no apparent cause. Maternal plasma estriol assays during pregnancy can help diagnose fetal adrenal insufficiency, whether the defect is central or adrenal.

Clinical and bacteriological survey after change in aminoglycoside treatment to control an epidemic of Enterobacter cloacae.

The effect of a change in the first line antibiotic treatment in a neonatal unit was studied. A total of 238 neonates (G1), admitted between 1 January and 31 July 1989, and treated with gentamicin, were compared with 398 (G2) admitted between 1 August 1989 and 31 July 1990 who received amikacin, in the combination of ampicillin plus an aminoglycoside. This change was implemented in an attempt to prevent the spread of an epidemic strain of Enterobacter cloacae resistant to third generation cephalosporins and all aminoglycosides, except amikacin. The change in treatment had no effect on the incidence of nosocomial infections [19.7% (G1) vs. 16.3% (G2) RR = 1.21 (0.86-1.70)], but the proportion of patients with nosocomial infections caused by the E. cloacae decreased (6.3% vs. 2.0% RR 3.14 CI 1.35-7.28). Certain trends in the bacterial ecology emerged: E. aerogenes and Enterococci increased in G2. The proportion of gentamicin-resistant strains such as E. cloacae or Staphylococci decreased and there was no increase in aminoglycoside-resistant strains, except in Escherichia coli, in which resistance to amikacin rose from 0 to 3%. This study illustrates the influence of antimicrobial therapy on the species and the resistance of strains isolated in nosocomial infections. It also highlights the need for epidemiologic surveillance, and poses the question of how best to modify antibiotic policy.

An outbreak due to echovirus type 30 in a neonatal unit in France in 1997: usefulness of PCR diagnosis.

Between February and August 1997, 53 patients with enterovirus meningitis were hospitalized in Clermont-Ferrand, France. All but one were children. Echovirus type 30 was involved in 70% of cases with identified serotype. The outbreak ceased on August 8. Two months later, a neonate was admitted to the neonatal unit with an echovirus type 30 meningitis thought to be acquired at delivery. Twenty days later a nosocomial outbreak of echovirus type 30 involving five neonates occurred. Two of them presented with meningitis and two with febrile seizure; One was asymptomatic. The retrospective examination of the maternal sera in a neutralization test, using the index case strain as a source of antigen, showed that none of the neonates was passively immunized before hospitalization. The use of genome detection in cerebrospinal fluid allowed rapid diagnosis and infection was contained by re-inforcing hygiene measures. Prospective examination of stools in the neonatal and paediatric units showed no further occurrences of the disease. No sporadic case was observed in the general population. Hence, nosocomial infections can occur a long time after an outbreak in the general population; rapid diagnosis with molecular tools is useful both for a definite diagnosis in patients already hospitalized, and to act as a rapid alert, even in intervals between seasonal outbreaks.

Cerebrospinal fluid enzymology: creatine kinase, lactate dehydrogenase activity and isozyme pattern as a brain damage index.

Blood serum and cerebrospinal fluid from a 4.5-year-old girl suffering from convulsive episodes of toxic origin were investigated for lactate dehydrogenase (LDH) and creatine kinase (CK) activities. Elevated levels of both enzymes were found. Furthermore CK was higher in the CSF (680 I.U./1) than in blood serum (160 I.U./1). The CSF activity was demonstrated mainly as the BB form (96%) for CK and H4 (63%) was the predominant form for LDH. Identical investigations were performed 45 h later and results compared with the first set. These data provide an additional example of interest in CSF enzymatic studies as a brain damage index.

[Acute myocarditis in children. Study of 11 clinical cases]. / Myocardites aiguës de l'enfant. Etude de 11 cas cliniques.

The diagnosis of acute myocarditis in children is based on histological criteria. Often viral in origin, it results in acute left ventricular dysfunction, the clinical manifestations of which are very variable. The potential severity of the disease is maximal in its initial phase, justifying rapid and intensive treatment. Long-term outcome is relatively good although there is a risk of chronic left ventricular dysfunction. This retrospective study is based on 11 cases of acute myocarditis admitted to the paediatric unit of Clermont-Ferrand University Hospital between February 1989 and March 1999. The initial symptoms were non-specific. Echocardiography was the key diagnostic procedure. Half of the patients had severe cardiac failure requiring admission to the intensive care unit. Four cases presented with a severe complication: two embolic events, one syncopal atrioventricular block and one cardiac arrest. The cardiac treatment was classical (digitalis, diuretics, angiotensin converting enzyme inhibitors, anticoagulants). The aetiology was established in 3 cases (toxoplasmosis, haemolytic and uraemic syndrome, Kawasaki) and a viral cause was suspected in 6 other cases (adenovirus in 3 cases, herpes virus, RSV and enterovirus in 1 case). There were no deaths in the acute phase. The long-term outcome was globally good: complete regression in 8 cases, 1 chronic left ventricular dysfunction and 2 late deaths due to intractable cardiac failure. This short series illustrates the often misleading presentation of acute myocarditis in childhood, the value of systematic investigation in the hope of a specific treatment becoming available in the near future for the often viral aetiology.

[Follicular bronchiolitis: a pediatric case report]. / Bronchiolite folliculaire: une observation pédiatrique.

A case of bronchiolitis of insidious evolution appearing in an unweened infant aged six months is reported. Initially an acute episode of bronchial obstruction was followed by respiratory failure with failure to thrive. The total inefficacy of conventional treatment (corticosteroids, nebulised and oral bronchodilators) led to assisted ventilation for three weeks, four months after the onset of symptoms. All investigations aimed at achieving a diagnosis were negative and this led to an open lung biopsy. This showed characteristic lesions of bronchiolitis and follicular bronchitis without other parenchymatous disease. With continuous antibiotics and physiotherapy the respiratory status improved, both clinically and radiologically. Amongst the explanations of the pathophysiology of follicular bronchitis they also discussed the existence of heterozygous delta F 508 in their observation to explain the chronicity of the problems. They stress the need to look for a mutation of delta F 508 in infants who present with unexplained obstructive bronchial pathology.

[Management of severe acute asthma in children in pediatric urgent and intensive care units]. / Prise en charge de l'asthme aigu sévère de l'enfant en unité de soins d'urgence et de soins intensifs pédiatriques.

Mortality in cases of severe asthma attacks in children is evaluated at 1%. During initial medical care, repeated evaluation of clinical and para-clinical severity criteria constitutes the main therapeutic guide. Emergency care treatment is based mainly on oxygen therapy, bronchodilatory therapy by discontinuous inhalation, and general corticotherapy. Intravenous theophylline treatment is controversial. The response after a few hours should allow a decision to be made [1] to follow up with outpatient treatment (rapid marked improvement), [2] to continue the hospital treatment (stabilization), or [3] to transfer to intensive care (worsening, exhaustion). In the intensive care unit, the treatment is based on continuous intravenous administration of beta 2 mimetics in addition to the above therapies. The objective is to avoid resorting to assisted ventilation. When this proves necessary, it must not be detrimental; controlled alveolar hypoventilation allows dynamic hyper-inflation linked to ventilation to be reduced. Prevention of relapse is indispensable. This requires hospitalization in a specialized care unit after discharge from intensive care.

[5-year evaluation of bacteriological samples (CSF, blood cultures, urine) in neonatology]. / Bilan de cinq années de prélèvements bactériologiques (LCR, hémocultures, urines) en néonatologie.

We report the result of the bacteriological samples performed for 5 years (1980-1984) in neonates, referred to the neonate unit of the hospital of Clermont-Ferrand, for infection (2,894 infants). The CSF tests show aseptic meningitis in 4% of the cases and in 0.4% meningitis with bacteria on the direct examination and in culture. We emphasize the interest of carrying out the soluble bacterial antigen assay (Strepto B, Coli K1) to find out the bacteria involved in the meningitis. 13.7% of the infants have one or several positive blood culture. The germ is a E. Coli in 30% of the cases, and less frequently a streptococcus D. They are few listeria. In 1984, the frequency of streptococcus B is increasing. Septicemia due to anaerobic germs or Candida Albicans emerge during the stay in the unit. Among 12,704 bacteriological urine analysis, we compare the real urinary infections (in which the enterobacteria are the main strain: 75.3%) and the significant bacteriuria.

[Maternal treatment with indomethacin and severe neonatal pulmonary hypertension (author's transl)]. / Utilisation obstétricale de i'indométacine et risques d'hypertension artérielle pulmonaire néonatale sévére.

The authors report five cases of premature newborns whose mothers had been treated with indomethacin. In all patients, clinical and biological symptoms were those of pulmonary hypertension with persistence of the fetal circulation. In two cases, autopsy showed an important reduction of the lumen of pulmonary arterioles due to a thickening of the tunica media. The role of indomethacin in such respiratory syndrome is very likely. Therefore, indications for that treatment in pregnant women should be reduced.

[Association of thrombopenia due to platelet alloimmunization with galactosemia in the neonatal period]. / Association d'une thrombopénie par allo-immunisation plaquettaire et d'une galactosémie en période néonatale.

The authors report on a newborn with two uncommon causes of bleeding. Platelet alloimmunization in PLA system was associated with galactosemia proved by the galacto uridyltransferase assay. The immediate outcome was favourable. The authors discuss the problem of diagnosis raised by this association.

[C-reactive protein and orosomucoid determinations in a neonatal pathology unit]. / Dosages de C-réactive protéine et d'orosomucoïde dans une unité de pathologie néonatale.

We report the result of CRP and ORM assays performed at the admission in the unit, in 157 neonates (NN). The NN were divided into 3 groups: 122 "controls" (group I), 21 having septicemia with or without meningitis but with symptoms of infection (group II), 16 having a positive blood culture without symptom of infection (group III). In group I, the CRP level does not depend on gestational age at birth, neither on the age at the assay. The level of ORM depends on both factors. Neonatal infection leads to a very significant rise of the CRP rate (often above 100 mg/l). The rise of ORM is not so dramatic. These data suggest that the assay of these two proteins are useful in the diagnosis of neonatal infection if they are performed together and at several times.

Qualitative cytology of cerebrospinal fluid as an indicator of neonatal brain damage and psychomotor outcome.

The authors report a double blind study on 57 full-term neonates prospectively subjected to clinical, electroencephalographical, cerebrospinal fluid and developmental examinations. Usual neonatal pleiocytosis depends on histiomonocytic cells which probably are a reflection of constant small brain damage during delivery. Infants suffering neurological sequelae at age one are recognizable as early as the 60th to 84th hours of life in view of persisting high histiomonocytic counts greater than 10 M. elements/l) and granulocytic peaks (greater than 2 M. elements/l) in clear samples. This method is then of interest, despite its invasive nature and limits (traumatic punctures, time-limits).

[Extramembranous glomerulonephritis during congenital syphilis]. / Glomérulonéphrite extra-membraneuse au cours d'une syphilis congénitale.

A 3 month old girl with congenital syphilis presented with the nephrotic syndrome due to extra membranous glomerulonephritis. The presence of the first component of the classical pathway of complement activation (C1q) in the glomerular deposits and the antitreponemal antibodies in circulating cryoglobulins (titre 1 : 320) support the hypothesis that immune complexes are responsbile for the glomerulonephritis in congenital syphilis.

[Familial lymphohistiocytosis. Anatomopathological study of 2 cases detected neonatally]. / Lymphohistiocytose familiale. Etude anatomopathologique de 2 observations à révélation néonatale.

Two brothers presented with hemophagocytic reticulosis with neonatal onset. Early clinical and biological symptoms included pallor, hepatosplenomegaly and anemia, thrombocytopenia. Evolution was lethal in both cases, at 5 months and 13 days of age, respectively. Diagnosis was confirmed in both by the pathologic findings: diffuse lymphohistiocytic cellular proliferation with hemophagocytosis and atrophy of the lymphoid tissue. The diagnostic difficulties of this disease in the neonatal period are emphasized.

[Asymmetrical hypertrophic cardiomyopathy in neonates of diabetic mothers]. / Hypertrophie septale asymétrique du nouveau-né de mère diabétique.

In 11 neonates of diabetic mothers echocardiography was systematically performed and led to the discovery of 6 cases with hypertrophic cardiomyopathy. This abnormality, which may induce cardiorespiratory failure, is usually benign and consists of systolic murmur and transitory cardiomegaly; all these symptoms spontaneously regress within a few weeks. This cardiomyopathy may present with obstructive signs requiring treatment with beta adrenergic blocking agents; however, it is more often pure and needs no treatment. It may be observed after pregnancies that were not well supervised and might be induced by fetal hyperinsulinism.

[Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)]. / Association, chez le même sujet, d'une deletion du bras court du chromosome 4 (4p-) et d'un deficit complet en parahydroxyphenylpyruvate oxydase hépatique (tyrosinose).

The authors report the association in a child of monosomy 4p- and tyrosinosis. They discuss the localization of the para-hydroxyphenylpyruvate oxidase locus on the short arm of chromosome 4. They suggest the study of para-hydroxyphenylpyruvate oxidase activity in each child with monosomy 4p-.

[Morbidity and psychomotor development at 2 years of age in children born in Puy-de-Dome in 1983. Study of children groups defined by perinatal risk]. / Morbidité et développement psychomoteur à deux ans des enfants nés dans le Puy-de-Dôme en 1983. Etude des groupes d'enfants définis par un risque périnatal.

All infants born in the Puy-de-Dôme area in 1983 and referred to a neonatal care unit were studied prospectively. Children were seen at their homes at 9 months and at 2 years of age and results were compared with those found in controls. High risk groups were defined on the basis of neonatal variables including prematurity, neurologic anomalies, respiratory distress, assisted ventilation, and growth retardation. At birth, prematurity was associated with an increased risk of respiratory distress and infections were more common in small-for-dates infants. Evaluations at 9 months and at 2 years of age showed increased prevalences of growth retardation and strabismus in the high-risk infants, and neurodevelopmental tests disclosed lower performances in these children. Conversely, infectious diseases and readmissions between birth and two years of age were not increased in the high risk groups, as compared with the control group.

[Transient hypothyroidism in 8 low birth weight newborns. Role of topical application of iodine chemicals]. / Hypothyroidie transitoire chez huit nouveau-nés de petit poids de naissance. Rôle de l'application cutanée de produits iòdés.

Very low plasma levels of thyroxine with a parallel decrease in the free thyroxine index were observed in 8 low birth weight infants. The tri-iodo-thyronine levels were slightly but significantly reduced and there was a concommitant increase in thyrotropin concentrations. The abnormalities, which were usually seen between the 10th--45th day, were transitory and resolved completely. The possible role of topical iodinated products is discussed.

Sequential rotavirus infections: characterization of serotypes and electrophoretypes.

Few studies have characterized the rotaviruses observed in repeated infections in the same patient. Rotavirus serotypes and electrophoretypes were determined from faecal samples of 24 children hospitalized between 1984 and 1989 in a Clermont-Ferrand hospital and who had had repeated rotavirus shedding. The patients were aged between 3 days and 4 years. Fifty infections were recorded. Of the 48 serotypes obtained, 18 were serotype 1 (37.5%), 10 serotype 2 (20.8%) and 20 serotype 4 (41.7%). Serotype 3 was not found. Seven serotype 2 infections were characterized during rehospitalization. Six patients had two subsequent infections with the same serotype.