RESUMEN
BACKGROUND: Fryns syndrome is a lethal autosomal recessive syndrome which includes congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a cleft palate / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and skeletal anomalies. CASES REPORT: We report on 3 patients with Fryns syndrome in the french Indian Ocean islands (La Réunion and Mayotte islands). Pregnancies were complicated by polyhydramnios. All patients had coarse face, cloudy corneae, cleft lip / palate or high-arched palate, hypoplastic nails and brachytelephalangy. They died in the neonatal period. Two had CDH and 1 did not have a diaphragmatic involvement but a severe respiratory distress syndrome with refractory hypoxemia. Cytogenetic studies of blood lymphocytes and skin fibroblasts were normal. CONCLUSIONS: Fryns syndrome is the most common multiple congenital anomaly associated with CDH. The diagnosis is strongly suggested when CHD and brachytelephalangy are associated. Phenotypes with CDH similar to Fryns syndrome have been described with cytogenetic aberrations with G-banded chromosome analysis and submicroscopic chromosome deletions detected by high resolution karyotyping or array comparative genomic hybridization (CGH). Exclusion of chromosome aberrations (including isochromosome 12p in skin fibroblasts) is needed prior to making the diagnosis of Fryns syndrome. In sporadic cases, high resolution karyotyping or array CGH should be performed for correct diagnosis and genetic counselling.
Asunto(s)
Anomalías Múltiples/diagnóstico , Huesos/anomalías , Labio Leporino/diagnóstico , Fisura del Paladar/diagnóstico , Anomalías Craneofaciales/diagnóstico , Hernia Diafragmática/diagnóstico , Hernias Diafragmáticas Congénitas , Pulmón/anomalías , Femenino , Humanos , Recién Nacido , SíndromeRESUMEN
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by coarse facies, diaphragmatic hernia, distal limb hypoplasia and malformations of the cardiovascular, gastrointestinal, genitourinary and central nervous systems. Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newborn with clinical features of Fryns syndrome except the diaphragmatic hernia. Cases of Fryns syndrome without diaphragmatic hernia are reviewed. Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns syndrome, especially pulmonary hypoplasia. Fetal mice, exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns syndrome. Nitrofen might target molecular mechanisms similar to those involved in Fryns syndrome.
Asunto(s)
Anomalías Múltiples/genética , Huesos Faciales/anomalías , Falanges de los Dedos de la Mano/anomalías , Genes Recesivos/genética , Hernia Diafragmática/genética , Resultado Fatal , Retardo del Crecimiento Fetal , Falanges de los Dedos de la Mano/diagnóstico por imagen , Edad Gestacional , Defectos del Tabique Interventricular/genética , Humanos , Recién Nacido , Masculino , Radiografía , SíndromeRESUMEN
Antiseptic solutions are commonly used for skin care but are not always safe. In preterm infants, application of antiseptic solutions can lead to serious burns. We report the case of a premature newborn who developed severe burns at 35 weeks post-conceptional age, after his mother used disposable antiseptic towels containing isopropyl alcohol for his skin care. Burns outcome led to diffuse skin burn and death of the baby. Several cases of isopropyl alcohol poisoning through skin absorption have been reported in neonate and infants. Because of its neonatal toxicity, isopropyl alcohol has been excluded from composition of antiseptic solutions commonly used in neonatology. However, isopropyl alcohol is still available in many housecleaning and cosmetic products, while its toxic effects in children are not clearly mentioned. A specific mention "toxic for infants and children" should appear on mass consumption products containing isopropyl alcohol. Moreover, health workers may individually inform parents about possible hazards of poisoning through skin absorption.
Asunto(s)
2-Propanol/envenenamiento , Accidentes Domésticos , Quemaduras Químicas/etiología , Enfermedades del Prematuro/inducido químicamente , Bacteriemia/complicaciones , Quemaduras Químicas/terapia , Enterococcus faecalis , Resultado Fatal , Infecciones por Bacterias Grampositivas/complicaciones , Humanos , Recién Nacido , Enfermedades del Prematuro/microbiología , Enfermedades del Prematuro/terapia , Masculino , Insuficiencia Multiorgánica/inducido químicamente , Insuficiencia Multiorgánica/microbiología , Padres/educación , Etiquetado de Productos , Infecciones por Pseudomonas/complicaciones , Absorción Cutánea , Cuidados de la Piel/efectos adversos , Cuidados de la Piel/instrumentación , Enfermedades Cutáneas Bacterianas/complicaciones , Infecciones Estafilocócicas/complicaciones , Staphylococcus epidermidisRESUMEN
UNLABELLED: A few years ago, most intestinal perforations in the premature newborn appeared within the clinical context of necrotising enterocolitis (NEC). Since then, we have observed an increase in the number of isolated perforations appearing outside typical NEC. The fact that the perforations are more often isolated, and the healing capabilities of the premature intestine, led us to propose peritoneal needle suction (PNS) alone as first treatment for intestinal perforations in the premature neonate. MATERIALS AND METHOD: The charts of 6 consecutive premature infants presenting with intestinal perforations treated initially by PNS alone were reviewed. RESULTS: The patients' median birth weight was 1030 g, with a median gestational age of 27 weeks. In 5 out of 6 infants (83 %), PNS achieved complete exsufflation without recurrence of the pneumoperitoneum and complete intestinal healing, allowing complete enteral feeding 30 to 71 days after perforation. One infant with recurrent pneumoperitoneum after 3 PNS and peritoneal drainage was operated. All infants survived. CONCLUSION: We believe that for early perforations of the premature neonate, the poor diffusion of the infection and the frequent capacity of the perforation to close and subsequently heal without scars, favour a minimally invasive management using PNS.
Asunto(s)
Perforación Intestinal/terapia , Agujas , Neumoperitoneo/terapia , Succión/métodos , Humanos , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Perforación Intestinal/complicaciones , Cavidad Peritoneal/diagnóstico por imagen , Neumoperitoneo/complicaciones , Radiografía , Succión/instrumentación , Resultado del TratamientoRESUMEN
Hyaline membrane disease (HMD) of premature newborn can lead to bronchopulmonary dysplasia (BPD). We report the observation of a 33 weeks premature newborn with HMD, treated with exogenous surfactant and mechanical ventilation. The patient developed respiratory distress with oxygen dependency initially related to BPD. Because of worsening of respiratory condition after 2 months, despite corticosteroid therapy, further investigation was performed. Cytomegalovirus (CMV) was found in urine and in the pharynx and CMV-pneumonia was diagnosed. Treatment with gancyclovir allowed a rapid regression of symptoms. Association between BPD and CMV-pneumonia has been previously reported but the causal relationship is controversial. In premature newborn, CMV-pneumonia can appear clinically and radiologically like a BPD. When evolution is atypical, with persistence of respiratory distress despite BPD treatment, CMV-pneumonia must be considered as a specific antiviral therapy may be discussed.
Asunto(s)
Displasia Broncopulmonar/complicaciones , Infecciones por Citomegalovirus/complicaciones , Enfermedades del Prematuro , Neumonía Viral/complicaciones , Displasia Broncopulmonar/diagnóstico , Infecciones por Citomegalovirus/diagnóstico , Femenino , Humanos , Recién Nacido , Enfermedades del Prematuro/diagnóstico , Neumonía Viral/diagnósticoRESUMEN
UNLABELLED: Pertussis remains in France the first cause of bacterial, infectious death in infant aged 10 days to 2 months. It is especially in this age group that malignant pertussis occurs. CASE REPORT: A 40-day-old infant was admitted in the intensive care unit with symptoms of bronchiolitis along with a 200 bpm permanent tachycardia. He presented a marked leukocytosis with lymphocytosis. On the second day, convulsions and coma occurred, followed rapidly by respiratory failure, with a subsequent deterioration due to the development of severe pulmonary hypertension. Circulatory failure caused the infant's death on the beginning of the 5th day. Pertussis was confirmed by PCR on nasopharyngeal swab. Intra-familial contamination was most likely. COMMENTS: Malignant pertussis is characterized by the very young age of patients, permanent tachycardia sine materia, dyspnea with early respiratory failure, frequent neurological symptoms, severe hyperleukocytosis and hyperlymphocytosis, and deep hyponatremia with oliguria and edema. Mortality remains superior to 75% despite the various treatments and life support measures that have been attempted. Adult pertussis, which represents one third of the cases of prolonged cough in this age group, is the main source of contamination of non-immunized young infants. This mode of transmission stresses the importance of the generalization of pertussis vaccine booster in early adolescence, which is recommended in France since 1998. Its extension towards the adult age is under study.
Asunto(s)
Tos Ferina/mortalidad , Adulto , Coma/etiología , Transmisión de Enfermedad Infecciosa , Resultado Fatal , Francia/epidemiología , Humanos , Hipertensión Pulmonar/etiología , Lactante , Leucocitosis/etiología , Masculino , Padres , Vacuna contra la Tos Ferina , Taquicardia/etiología , Tos Ferina/complicaciones , Tos Ferina/prevención & control , Tos Ferina/transmisiónRESUMEN
UNLABELLED: Percutaneous central venous catheterization for parenteral feeding is a permanent problem in the management of very low birth weight neonates. Usually, 23-gauge catheters (diameter: 0.6 mm) are used. In our unit, we have started to use 27-gauge catheters (diameter 0.35 mm) since 1995. The aim of this study was to report our experience with this materiel. SUBJECT AND METHODS: Between September 1, 1997 and January 30, 2000, 352 catheter implantations were performed using 27-gauge infusing sets in 200 premature infants (gestational age less than or equal to 33 weeks [mean 29.2], weight less than or equal to 1,500 g [mean: 1, 152.5 g]). Data were reviewed retrospectively with the view to determine the modality of use and complications. Peculiar insertion modalities were prospectively evaluated in the 50 last included infants (92 catheters). RESULTS: In 97% of cases, the physician needed no help to insert the catheter. In 99.5% of cases (199 neonates), the insertion was successful (the procedure failed in one case). The mean duration procedure was 26 min (range 10 to 85 min). The mean age at insertion of the first catheter was 29 hours (range 0 to 216). Mean catheter maintenance duration was 15 days (range 1 to 53). In 31 cases, documented sepsis related to the catheter were noted (8.8% or 5.8 infections for 1,000 catheter-days). Endocarditis was observed in one case. A pericardial effusion was diagnosed in two cases. No death related to the catheter was noted. CONCLUSION: In our experience, 27-gauge catheter implantation is an easy and safe procedure. We noted no major maintenance problems. Complications were not observed more frequently than those usually encountered with 23-gauge catheters. We conclude that 27-gauge catheter utilization is an attractive alternative for percutaneous central venous catheterization, in very low birth weight neonates.
Asunto(s)
Cateterismo/métodos , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Nutrición Parenteral/instrumentación , Cateterismo/efectos adversos , Diseño de Equipo , Femenino , Humanos , Recién Nacido , Masculino , Estudios RetrospectivosRESUMEN
BACKGROUND: Feingold syndrome is a combination of hand and foot anomalies, microcephaly, tracheo-esophageal fistula, esophageal/duodenal atresia, short palpebral fissures and developmental delay. The most frequent physical findings are clinodactyly of the second and fifth fingers with absent or hypoplastic middle phalanges, and syndactyly of the toes. Inheritance is autosomal dominant (MIM number 164280) with full penetrance concerning hand anomalies, variable expressivity and great intrafamilial variability. CASE REPORT: We report the case of an African boy with duodenal atresia, microcephaly, brachymesophalangy of the second and fifth fingers, unilateral thumb hypoplasia, bilateral syndactyly of toes 2-3 and amesophalangy of the toes. Karyotype was normal. No other member of the family was affected. A fresh mutation is possible. CONCLUSION: Brachymesophalangy affecting mainly the second and fifth fingers and amesophalangy of the lateral toes are cardinal clinical findings in Feingold syndrome. These clinical findings define the syndrome of brachydactyly A4-Temtamy type (MIM 112800), suggesting that brachydactyly A4 would be a partially expressed Feingold syndrome. The incidence of esophageal/duodenal atresia is 29%, including all the known cases. All karyotypes of reported patients were normal.
Asunto(s)
Anomalías Múltiples/patología , Dedos/anomalías , Dedos del Pie/anomalías , Anomalías Múltiples/genética , Enfermedades Duodenales/genética , Enfermedades Duodenales/patología , Humanos , Lactante , Cariotipificación , Masculino , Microcefalia/genética , Linaje , SíndromeAsunto(s)
Neoplasias Abdominales/tratamiento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Linfoma de Burkitt/tratamiento farmacológico , Síndrome de Reye/inducido químicamente , Antibióticos Antineoplásicos/administración & dosificación , Antibióticos Antineoplásicos/efectos adversos , Antimetabolitos Antineoplásicos/administración & dosificación , Antimetabolitos Antineoplásicos/efectos adversos , Antineoplásicos Alquilantes/administración & dosificación , Antineoplásicos Alquilantes/efectos adversos , Antineoplásicos Hormonales/administración & dosificación , Antineoplásicos Hormonales/efectos adversos , Antineoplásicos Fitogénicos/administración & dosificación , Antineoplásicos Fitogénicos/efectos adversos , Niño , Ciclofosfamida/administración & dosificación , Ciclofosfamida/efectos adversos , Citarabina/administración & dosificación , Citarabina/efectos adversos , Doxorrubicina/administración & dosificación , Doxorrubicina/efectos adversos , Etopósido/administración & dosificación , Etopósido/efectos adversos , Humanos , Masculino , Metotrexato/administración & dosificación , Metotrexato/efectos adversos , Prednisona/administración & dosificación , Prednisona/efectos adversos , Vincristina/administración & dosificación , Vincristina/efectos adversosRESUMEN
A case of situs inversus with discordant atrio-ventricular and ventriculo-arterial structures was diagnosed at the ultrasonography examination performed at 34 weeks gestation. This observation underscores the importance of recognizing the position of the viscerae and discordant segments of the heart, atria, ventricles and greater vessels. Overall frequency of situs inversus is estimated at 1/10,000 births. It is often associated with an inborn cardiopathy, especially corrected transposition of the greater vessels resulting from abnormal rotation of the cardiac tube. The anatomic, pathologic, embryologic, etiologic and and sonographic features of situs inversus and related anomalies of the cardiac structures is presented.
Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Situs Inversus/diagnóstico por imagen , Transposición de los Grandes Vasos/diagnóstico por imagen , Ultrasonografía Prenatal , Anomalías Múltiples/embriología , Adulto , Femenino , Humanos , Incidencia , Recién Nacido , Embarazo , Tercer Trimestre del Embarazo , Pronóstico , Situs Inversus/embriología , Transposición de los Grandes Vasos/embriologíaRESUMEN
BACKGROUND: Primary myelofibrosis is rare in infants and children; its association with auto-immune markers has only been reported in adults. CASE REPORT: An 8 month-old girl was admitted because of severe anemia and neutropenia. The marrow aspirate showed dysgranulopoiesis and partial interruption of maturation after the myelocyte level. The bone marrow biopsy revealed reticulinic myelofibrosis. The condition worsened with development of agranulocytosis and thrombocytopenia. Investigations ruled out malignant hemopathy, metastatic infiltration of the marrow and osteopathy. A myelodysplastic syndrome was discussed, but presence of anti-granulocyte auto-antibodies and positive Coombs test led to consider an autoimmune etiology. A corticosteroid therapy was attempted, effective only on the platelet lineage. Addition of intravenous gammaglobulin therapy corrected the problem. After a 24 month-course of the disease, it was necessary to prolong therapy. CONCLUSION: The efficacy of gammaglobulins may be an additional argument for auto-immunity, although no other auto-immune pattern has been observed in our patient, contrary to reported cases in adults.
Asunto(s)
Glucocorticoides/uso terapéutico , Inmunoglobulinas Intravenosas/uso terapéutico , Prednisona/uso terapéutico , Mielofibrosis Primaria/tratamiento farmacológico , Terapia Combinada , Femenino , Humanos , Lactante , Mielofibrosis Primaria/complicaciones , Inducción de RemisiónRESUMEN
UNLABELLED: The mortality rate is an indicator of public health related to social, economic and sanitary conditions. In 1990, the early neonatal and infant mortality rates published by the National Institute of Statistics and Economic Studies (INSEE) for Reunion Island were surprisingly lower than those published for continental France, in spite of a less favourable socio-economic status. Therefore, we considered is useful to try to re-establish the true rates by means of a retrospective survey based first on the vitality and maturité criteria of the French Register Office, then on those of the World Health Organisation (WHO). POPULATION AND METHODS: Among all the childbirths registered in Reunion Island between January 1st and December 31st 1990, we collected the cases of stillbirths and neonatal deaths that occurred in hospital or at home. The vitality and maturity criteria were defined according to all clinical and para-clinical records available. RESULTS: After an adjustment of the vitality criteria based on the medical files, the use of the French Register Office maturity criteria resulted in the following date: stillbirth rate 8.69% (versus 9.89), early neonatal mortality rate 3.88% (versus 2.65%), and infant mortality rate 8.12% (versus 6.7%). Then, using the WHO maturity criteria, we found the following rates: stillbirth 12.7%, early neonatal mortality 5.1%, perinatal mortality 17.74%, infant mortality 9.34%. CONCLUSION: The non-observance of vitality criteria leads to a decrease of early neonatal mortality rate, and consequently of infant mortality rate. On the other hand, the WHO maturity criteria are either ignored or debated. Those two facts contribute to the publication of wrong still birth, early neonatal mortality and infant mortality rates. Therefore, the fetal-infant mortality rate seems to be more reliable than the infant mortality rate.
Asunto(s)
Mortalidad Infantil , Muerte Fetal/epidemiología , Francia/epidemiología , Humanos , Recién Nacido , Vigilancia de la Población , Sistema de Registros , Reproducibilidad de los Resultados , Estudios Retrospectivos , Reunión/epidemiología , Factores Socioeconómicos , Organización Mundial de la SaludRESUMEN
Retinoids are synthetic vitamin A derivatives, particularly used in dermatology. Their prescription in women of childbearing age can cause, if pregnancy occurs, a serious malformative embryopathy, mainly involving external ear, brain and heart. A neonatal case caused by isotretinoin (RoAccutane) emphasizes the clinical and epidemiological data concerning this embryopathy. The aetiopathological hypothesis of an interaction between isotretinoin and Hox genes is advanced. Prophylactic measures are difficult since neonatal reported cases are uncommon, but antenatal exposition to this strong teratogenic agent results in multiple spontaneous abortions or pregnancy interruptions.
Asunto(s)
Anomalías Múltiples/inducido químicamente , Encéfalo/anomalías , Oído Externo/anomalías , Cardiopatías Congénitas/inducido químicamente , Isotretinoína/efectos adversos , Efectos Tardíos de la Exposición Prenatal , Teratógenos , Anomalías Múltiples/prevención & control , Adulto , Femenino , Cardiopatías Congénitas/prevención & control , Humanos , Recién Nacido , EmbarazoRESUMEN
BACKGROUND: Herpes simplex virus (HSV) may cause severe disease in the neonate with high mortality and devastating sequellae. This infection presents exceptionally as isolated fulminant hepatitis. CASE REPORT: An 8 day-old baby was admitted because of seizures, fever and vomiting. Initial investigations including CSF analysis were negative and the patient was given ampicillin plus netilmicin. Two skin vesicles were seen 5 days later containing HSV. A second CSF analysis was negative as was the brain scan. At that time, liver involvement was evident: ASAT 3700 IU/l; ALAT 1035 IU/l; prothrombin 37%; fibrinogen 1 g/l. Hemogram showed WBC: 2,500/mm3 and PNN: 702/mm3. The patient was given acyclovir 40 mg/kg/day IV. Blood and CSF culture remained negative; CSF interferon concentration was 4 IU/ml. Serologic investigations in both parents were inconclusive. The disease worsened rapidly with consumption coagulopathy requiring ventilation support. The dose of acyclovir was increased to 60 mg/kg/day, 9 days after admission. Improvement was noted on the 10th day and acyclovir was administered orally on the 21st day. The condition was completely normal 6 months later. CONCLUSION: Early administration of acyclovir may favor complete recovery of neonatal HSV hepatitis.
Asunto(s)
Aciclovir/uso terapéutico , Hepatitis Viral Humana/tratamiento farmacológico , Herpes Simple/tratamiento farmacológico , Aciclovir/administración & dosificación , Administración Oral , Humanos , Recién Nacido , Inyecciones Intravenosas , MasculinoAsunto(s)
Vólvulo Gástrico/diagnóstico por imagen , Femenino , Humanos , Recién Nacido , RadiografíaRESUMEN
The dengue fever is an intertropical arbovirus, well known in French Polynesia where the first cases of dengue haemorrhagic fever appeared at the end of 1989. The authors report their experience in the paediatrics ward of the Centre Hospitalier Territorial (CHT) of Papeete, where, from 1990 to 1992, 310 cases of dengue fever have been registered with 79 cases of dengue shock syndrome (25.5%) and 12 deaths (4%). Then, following an epidemiologic summary and a description of how the clinical picture evolves in children, they insist on the fact that the pathophysiology of dengue fever is unknown, and there is no predictive factor; even if, in this study, the young age seems to be factor of severity. Therefore, an epidemiologic survey, and a very close monitoring of each case are necessary, in order to start an aggressive symptomatic treatment as soon as possible. The antivector's fight is still the only prevention against this arbovirosis.