RESUMO
INTRODUCTION: We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages. MATERIAL AND METHODS: We analysed our 19 year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin. RESULTS: The 19 year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them. DISCUSSION: Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs.
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Encefalopatias Metabólicas Congênitas , Doenças Fetais , Testes Genéticos , Complicações Infecciosas na Gravidez , Diagnóstico Pré-Natal , Encefalopatias Metabólicas Congênitas/genética , Encefalopatias Metabólicas Congênitas/patologia , Encefalopatias Metabólicas Congênitas/fisiopatologia , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/fisiopatologia , Aconselhamento Genético , Humanos , Gravidez , Complicações Infecciosas na Gravidez/genética , Complicações Infecciosas na Gravidez/patologia , Complicações Infecciosas na Gravidez/fisiopatologiaRESUMO
OBJECTIVE: To analyze thrombocytopenia as an early marker of late-onset neonatal Candida sepsis and to determine whether there are significant differences in platelet count between neonates infected by different infectious agents. MATERIAL AND METHODS: We retrospectively reviewed the medical charts of 42 neonates with late-onset sepsis with positive blood culture in our neonatology service between January 1, 2003 and December 31, 2004. Only the first episode of sepsis in any single patient was included. The principal parameter examined was the incidence of thrombocytopenia according to the microorganisms causing the sepsis (Gram-positive bacteria, Gram negative bacteria and fungi). The statistical analysis was performed using SPSS version 11.5. The data are expressed as mean+/-standard deviation. The chi-squared test was used to compare qualitative variables. For quantitative variables, the Kolmogorov-Smirnov was used; ANOVA was used for parametric variables and the Kruskal-Wallis test for non-parametric variables. A value of p<0.5 was considered significant. RESULTS: Late-onset sepsis was diagnosed in 42 (2.3%) of 1,757 newborn admissions. Gestational age at birth was 31+/-4.9 weeks (24-41.5 weeks) with a mean birth weight of 1,618+/-911 g (750-4,070 g). There were 34 boys (81%) and eight girls (19%). When patients infected with the three groups of microorganisms were compared, no significant differences were found except for birth weight, days of stay in the neonatal intensive care unit, thoracotomy, days of mechanical ventilation, antibiotic therapy before sepsis, and thrombocytopenia. Gram-positive sepsis was found in 47.6%, Gram-negative sepsis in 33 % and fungal sepsis in 19%. The only cause of fungal sepsis was Candida, mainly C. glabrata (50%), followed by C. albicans (37.5%) and C. parapsilosis (12.5%). The most reliable marker of Candida sepsis was thrombocytopenia, which was found in 17.7% of the episodes of late-onset sepsis. The incidence of thrombocytopenia was significantly higher in Candida sepsis than in bacterial sepsis (100% vs 5.9%) (p<0.001). Only two patients with bacterial sepsis had thrombocytopenia and both cases were caused by Gram-negative bacteria. CONCLUSION: Thrombocytopenia is a highly specific marker of neonatal Candida sepsis. Analysis of platelet counts is a simple laboratory test that helps to guide diagnosis and the use of early empirical therapy.
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Candidíase/complicações , Infecção Hospitalar/complicações , Recém-Nascido de muito Baixo Peso , Trombocitopenia/complicações , Feminino , Humanos , Recém-Nascido , Masculino , Estudos RetrospectivosAssuntos
Anormalidades Múltiplas/genética , Poliploidia , Evolução Fatal , Humanos , Recém-Nascido , MasculinoRESUMO
UNLABELLED: The aim of this study is to do an analytical study of cleft palate and cleft lip in our hospital. PATIENTS AND METHODS: 85 clinical charts of patients attended in our hospital born between 1976 and 2001 in Aragon and Rioja were reviewed. We studied the incidence of oral cleft, associated malformations and morbidity, familial antecedents and perinatal data, phonatory disfunctions, serose otitis, growth failure and psychiatry problems. RESULTS: The mean incidence was 0.5/1000 newborns. 41.5% presented associated malformations and 19.3% were associated with a specific syndrome, being more frequent in patients affected of cleft palate and cleft lip (50%) than patients with only cleft palate (41.2%) or only cleft lip (8.8%). The most frequent malformations were: facial defects (50%), skeletal (33%), congenital cardiopathies (33%). 19% were born prematurely. The percentage of serose otitis that required control at hospital was 37.3%. 34.2% presented phonatory problems. There was a high incidence of growth failure and psychiatry problems. CONCLUSION: Oral clefts represent a complex clinical condition with a high percentage of medical complications that require a multidisciplinary treatment. The high incidence of congenital defects associated with this condition demand an exhaustive screening in the newborns affected.
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Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Anormalidades Múltiplas/epidemiologia , Feminino , Humanos , Incidência , Recém-Nascido , MasculinoRESUMO
INTRODUCTION: Neonatal infection is a major cause of morbidity in the neonatal period. Several parameters have been used to assess neonatal sepsis. C-reactive protein (CRP) shows high specificity for bacterial infections, but an increase in CRP is often not detected until 12 to 24 hours after onset of the infection. OBJECTIVE: To evaluate the usefulness of interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-alpha) in the early diagnosis of vertically-transmitted neonatal bacterial infection. METHODS: Thirty-four newborns admitted to the neonatal intensive care unit with an initial diagnosis of respiratory distress were included. Twelve newborns presented the criteria for clinical sepsis or pneumonia (group I) and six had positive blood culture. The remaining patients did not present the clinical criteria for infection (group II). IL-6, TNF-alpha, CRP levels and the ratio between immature and mature neutrophil count were assessed at 8.8 +/- 7.3 hours of life. In 17 patients the same parameters were assessed at 67.4 +/- 24.8 hours of life. The statistical analysis was performed using the Mann-Whitney test. The sensitivity and specificity of these markers were assessed. RESULTS: No differences were found in the perinatal features of either group. Analysis of markers of infection revealed the following significant differences: ratio between immature and mature neutrophil count: (0.25 +/- 0.21 vs 0.12 +/- 0.09; p=0.048), CRP first determination (1.4 +/- 0.8 mg/dL vs 1 +/- 0.5 mg/dL; p=0.036), CRP second determination: (3.8 +/- 1.8 mg/dL vs 1.4 +/- 1.1 mg/dL; p=0.008), IL-6 first determination: (582.2 +/- 810.5 pg/mL vs 31.3 +/- 24.2 pg/mL; p=0.000). Sensitivity/specificity (%): ratio between immature and mature neutrophil count: 41.6/83.6; CRP first determination: 16.6/90.9; CRP second determination: 83.3/87.5; IL-6 (optimum cut-off value: 55 pg/mL): 100/72.7, and TNF-alpha: 16.6/85. CONCLUSIONS: IL-6 determination in the first hours of life is a more sensitive early marker of neonatal infection than other classical markers because of its early elevation. Like CRP, early TNF-alpha determination has high specificity but low sensitivity.
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Transmissão Vertical de Doenças Infecciosas , Interleucina-6/metabolismo , Sepse/metabolismo , Sepse/transmissão , Fator de Necrose Tumoral alfa/metabolismo , Biomarcadores , Idade Gestacional , Humanos , Recém-NascidoRESUMO
BACKGROUND: Despite their increasing importance in children's nutrition, studies on selenium levels in neonates in Spain are scarce and often contradictory. OBJECTIVES: To establish the standard serum levels of selenium in healthy full term neonates in our area and to contribute knowledge of the perinatal factors that influence these levels. METHODS: We determined selenium levels in serum by atomic absorption spectrophotometry in 247 neonates: 70 healthy full term neonates, 60 sick full term neonates, 18 neonates with intrauterine growth retardation (> 37 weeks; birthweight < 2500 g), 44 healthy preterm neonates and 55 sick preterm neonates. RESULTS: Healthy full term newborns showed higher serum selenium levels than healthy preterm neonates (35.11 6.94 g/l, range: 18.4-48 g/l versus 28.65 5.95 g/l, range: 15-44.4 g/l, p < 0.001). In the group with intrauterine growth retardation, serum selenium levels were higher than in the healthy preterm group (30.80 6.97 g/l, range: 20-45.6 g/l versus 28.65 5.95 g /L, range: 15-44.4 g/l) but lower than in the full term and normal birthweight group (idem versus 35.11 6.94 g/l, range 18.4-48 g/l). Likewise, the low birthweight group (< 2500 g) showed lower mean serum selenium levels than the normal birthweight group (27.98 6.75 g/l, range 15-48 g/l versus 33.09 7.52 g/l, range 14.4-48 g/l; p < 0.001). CONCLUSIONS: Prematurity and low birthweight are the best predictors for risk of neonatal hyposeleniemia.
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Selênio/sangue , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Recém-Nascido de muito Baixo Peso , Estudos Prospectivos , Selênio/deficiência , Espectrofotometria Atômica/instrumentaçãoRESUMO
INTRODUCTION: Smith Lemli Opitz syndrome is an autosomal recessive metabolic disease, two forms can be differentiated: type I and type II. CASE REPORT: We present the clinical case of a female newborn with antecedents of oligoamnios and intrauterine growth retardation who presented a characteristic malformative syndrome, severe neurological impairment, anomalies of the limbs, pyloric stenosis, and renal and cardiac defects. Determination of cholesterol and its precursors by gas chromatography confirmed the clinical diagnosis of a severe form with exitus at six months of age. At the same time a review of the syndrome is presented.
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Síndrome de Smith-Lemli-Opitz/diagnóstico , Colesterol/metabolismo , Retardo do Crescimento Fetal , Humanos , Recém-Nascido , Masculino , Fenótipo , Síndrome de Smith-Lemli-Opitz/genética , Síndrome de Smith-Lemli-Opitz/metabolismoRESUMO
INTRODUCTION: Although focal cerebral ischemic or hemorrhagic lesions are infrequent in the term newborn, they must be considered when neurologic symptoms appear, especially when seizures are present. OBJECTIVE: Possible risk factors to suffer from these pathologies have been studied, as well as their evolution, to try to give a prognosis. PATIENTS AND METHODS: The term newborns with focal ischemic or hemorrhagic cerebral lesions who presented symptoms in the neonatal period have been studied for 10 years (January 1990-March 2000) in our Children s Hospital Miguel Servet of Zaragoza (Spain). The newborns have been studied in our hospital, and their evolution followed in the Neuropediatric Consulting Room. From each case data about familiar history, pregnancy, labor, clinical manifestations, physical examination, complementary studies, diagnosis and neurodevelopment evolution have been collected. RESULTS. From the nine cases found, four were infarctions of the left medial cerebral artery, and five were hemorrhages. Except in two cases in which an important birth trauma was present, any other antecedent that could be the cause was found. All except one manifested as seizures. Neuroimaging studies visualized the stroke in all of them. A slight motor deficit remains in seven children, and it is severe in one. CONCLUSIONS: Cerebrovascular strokes are infrequent in term newborns. Most of the times their etiology is not found. These accidents usually manifestate as focal seizures in the immediate neonatal period, and neuroimaging studies (ECO-TC) are essential for the diagnosis. The long term evolution is favorable in most of the cases, although focal motor deficit remains present frequently.
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Isquemia Encefálica/diagnóstico , Encéfalo/irrigação sanguínea , Hemorragia Cerebral/diagnóstico , Encéfalo/diagnóstico por imagem , Isquemia Encefálica/complicações , Hemorragia Cerebral/complicações , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Idade Materna , Transtornos das Habilidades Motoras/etiologia , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: The objective of this study was to analyze, from an aetiological angle, the cases seen with symptomatic epilepsy by the Seccion de Neuropaediatria del Hospital Miguel Servet de Zaragoza. PATIENTS AND METHODS: We studied the cases diagnosed as having symptomatic epilepsy between May 1990 and November 1999. RESULTS: Of a total of 4,466 children assessed during the study period, the diagnosis of epilepsy was established in 461 children (10.3% of the total). This included idiopathic epilepsy in 110 cases (23.9%), cryptogenic epilepsy in 119 cases (25.8%) and symptomatic epilepsy in 232 cases (50.3%). The aetiologies of the symptomatic epilepsies were: prenatal encephalopathies in 137 cases (59%), perinatal encephalopathies in 33 (14.3%), postnatal encephalopathies (due to accidents, acquired infections and postnatal cerebrovascular accidents) in 20 (9%), tumours ( including the post-operative period) in 14 (6%), neurocutaneous syndromes in 13 (5.6%), metabolic and degenerative disorders in 13 (5.6%) and one case of vascular malformation. CONCLUSIONS: The symptomatic epilepsies make up half the epilepsies evaluated by the department of neuropaediatrics. In 59% the cause was prenatal. Other causes of symptomatic epilepsy were also represented in the series. A detailed study of these should help us to understand and manage them better. We consider aetiological aspects to be very important in the study of epilepsy, since the aetiology is one of the most important factors in prognosis.
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Epilepsia/etiologia , Adolescente , Criança , Pré-Escolar , Epilepsia/diagnóstico , Departamentos Hospitalares , Humanos , Neurologia , Pediatria , Encaminhamento e Consulta , EspanhaRESUMO
OBJECTIVES: To define the oxidative phosporilation deficit syndrome in the neonatal in terms of incidence and clinical, biochemical and genetic features. MATERIAL AND METHODS: We report 9 newborns diagnosed as oxidatic phosporilation deficit during the last 8 years in our hospital by means of clinical, metabolic, pathological and molecular studies, among other evaluations. The diagnosis was established based on ensymatic deficit of the respiratory chain, associated with alterations in the mtDNA in one case, and with mitochondrial ultrastructural anomalies in 5 cases. RESULTS: There was an incidence of 1/3.555 newborns and 1/832 newborns admitted in our Neonatal Unit. In four of them there were familial antecedents and polihidramnios in two. Most of them, 8 out of 9, were born at term after a normal pregnancy and delivery, with normal Apgar score and auxological examination. Symptomatology started immediately at the neonatal period as acute neurological damage in most of them. There was a severe evolution as 5 children died and 4 survived with severe damage. All of them had the classical phenotype of early severe encefalopathy, associated with dismorphic features, hypotomía, neurosensorial defects, brain dysgenesis and atrophy, anomalies in the EEG and in 5 of them there were also systemic anomalies, mainly cardiopathy. The most frequent biochemical alteration was a significative increment of the quotient lactate/piruvate. Five patients presented ultrastructural alterations of the mitochondria in thr muscle biopsy but Cox stain was not positive in any case. Three cases has a deficit of the complex IV, e of the complex I-IV, 2 of the complex I and one the complex I-III-IV. Only one patient had multiple deletions in the mtDNA. CONCLUSIONS: Oxidatic phosporilation deficit are frequent and severe diseases of prenatal onset with limited fetal effects, homogeneous clinical phenotype with frequent damage of the central nervous system and variable extraneurological alteration and inconsistent biochemical pattern. Enzymatic studies ar need for making the diagnosis in all suspected cases,
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Erros Inatos do Metabolismo , Fosforilação Oxidativa , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/epidemiologia , Erros Inatos do Metabolismo/etiologia , Erros Inatos do Metabolismo/metabolismo , FenótipoRESUMO
We report a neonate with isolated cytochrome c oxidase (COX) defect and severe multisystemic involvement. The patient had severe encephalopathy, predominant since birth, and died due to hypoxic-ischemic myocardiopathy. He was the second son of non-consanguineous, healthy parents who also had a daughter with chronic encephalopathy. The neonate presented dysmorphic phenotype, hepatic and muscular involvement, and possibly tubular involvement. Metabolic studies revealed markedly increased lactic/pyruvic concentrations. Diagnosis was based on muscular enzymatic studies and ultrastructural mitochondrial anomalies, while the mitochondrial DNA and results of the COX technique were normal. Histological examination revealed a massive subendocardial infarction. Aspects of this entity with relevance for genetic counseling are discussed.