RESUMO
OBJECTIVES: To compare the ability of detailed routine ultrasound examination, performed without knowledge of maternal serology and fetal status, with that of targeted prenatal imaging performed in prenatal diagnostic units in cases of known fetal infection to identify cytomegalovirus (CMV)-infected fetuses that will develop long-term sequelae. METHODS: All prenatal imaging reports were collected for 255 children with congenital CMV in a registered cohort between 2013 and 2017 (NCT01923636). All women had undergone detailed routine fetal ultrasound examination at 20-24 and 30-34 weeks as part of routine antenatal care. All cases of known fetal CMV infection had also undergone targeted prenatal ultrasound examination. Postnatal structured follow-up for up to 48 months of age involved clinical, audiological and neurological assessment, including Brunet-Lezine scoring. Long-term sequelae (> 12 months) were considered to be mild in cases with isolated unilateral hearing loss and/or vestibular disorders, and severe in cases with bilateral hearing loss and/or neurological sequelae. All imaging reports were analyzed retrospectively with the knowledge of congenital CMV infection, searching for reference to findings that were, or could have been, related to fetal infection. Findings were analyzed in relation to whether the cases were diagnosed with CMV in utero or only postnatally. RESULTS: There were 237 children with complete follow-up data (> 12 months), for a median of 24 (range, 12-48) months. Of these, 30% (71/237) were diagnosed with CMV prenatally and 70% (166/237) were diagnosed within 3 weeks after birth. 72.5% (29/40) of children with long-term sequelae, including 74% (14/19) with severe long-term sequelae, were not identified in the prenatal period. Among those diagnosed prenatally, the sensitivity of prenatal imaging for predicting long-term sequelae and severe long-term sequelae was 91% and 100%, respectively, while, in the group diagnosed only postnatally, non-specific infection-related ultrasound findings had been reported without raising suspicion in 48% of cases with long-term sequelae and 64% of those with severe long-term sequelae. CONCLUSIONS: Routine detailed ultrasound examination in pregnancy is not an appropriate screening tool for congenital CMV infection that leads to long-term sequelae, in contrast with the high performance of targeted prenatal imaging in known cases of fetal infection. The non-specific nature of ultrasound features of CMV and their evolution, and a lack of awareness of caregivers about congenital CMV, are likely explanations. Awareness of the sonologist regarding congenital CMV and knowledge of the maternal serological status in the first trimester seem key to the performance of prenatal ultrasound. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.
Assuntos
Infecções por Citomegalovirus/diagnóstico por imagem , Ultrassonografia Pré-Natal/normas , Citomegalovirus/isolamento & purificação , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/transmissão , Feminino , Humanos , Transmissão Vertical de Doenças Infecciosas , Estudos Longitudinais , Programas de Rastreamento/efeitos adversos , Valor Preditivo dos Testes , Gravidez , Complicações Infecciosas na GravidezRESUMO
OBJECTIVE: To evaluate the impact in maternity hospitals of using an embroidered "I sleep on my back" sleeping bag on observing the sleeping recommendations at 1 month after birth. METHOD: This was a multicentere prospective study, exposed/unexposed type, in which mothers answered questionnaires (by telephone and online) 1 month after giving birth. The exposed group consisted of mothers who had given birth in a maternity hospital of the ELENA network in which the embroidered sleeping bag was used as a preventive action; the unexposed group of mothers gave birth in a maternity hospital of the RP2S network, without this specific preventive action. RESULTS: A total of 540 mothers participated in the study: 245 in the exposed group and 295 in the unexposed group. In the exposed group, 87.3% of infants slept exclusively on their back versus 75.9% in the unexposed group (P<0.001); 91% of the mothers reported having actually used the sleeping bag. Except for room-sharing, compliance with the other sleeping recommendations was higher in the exposed group. CONCLUSION: Sleeping practices when infants were 1 month old were not optimal in our study population. A simple preventive initiative in maternity hospitals, using the embroidered "I sleep on my back" sleeping bags, is relevant and effective in improving compliance with the sleeping recommendations for infants at home.
Assuntos
Roupas de Cama, Mesa e Banho , Cuidado do Lactente/métodos , Comportamento Materno , Assistência Perinatal/métodos , Sono , Morte Súbita do Lactente/prevenção & controle , Adulto , Feminino , Seguimentos , Maternidades , Humanos , Lactente , Cuidado do Lactente/instrumentação , Recém-Nascido , Masculino , Cooperação do Paciente/estatística & dados numéricos , Guias de Prática Clínica como Assunto , Fatores de Proteção , Fatores de Risco , Morte Súbita do Lactente/etiologia , Decúbito DorsalRESUMO
BACKGROUND: Objective tools are needed to improve pain assessment in newborns. The aim of this study was to assess the correlation between the Newborn Infant Parasympathetic Evaluation (NIPE) index and two pain scales during a painful procedure in premature infants. METHOD: Each baby born at least at 26 weeks of gestational age (GA) undergoing a planned painful procedure in the Neonatal Intensive Care Unit (NICU) was eligible. NIPE index, heart rate variability (HRV) indices and Neonatal Acute Pain scale (DAN) were recorded across three periods: the first at rest 5 min before the painful procedure (T1), the second during it (T2) and the third 3 min after the end of it (T3). The Premature Infant Pain Profile-Revised (PIPP-R) pain scale was recorded at T2. RESULTS: Sixty-four recordings were performed in 29 preterm infants (mean GA = 29.9 ± 4.2 weeks). Twenty-eight tachograms were coupled to NIPE for analysis. We did not find a correlation between the NIPE index and DAN and PIPP-R at the pain time T2. Between T1 and T2, heart rate was higher (159 ± 16 vs. 169 ± 12, p < 0.001). Considering the linear HRV indices, we did not observe a modification in parasympathetic or sympathetic activity, while for the nonlinear HRV indices (H exponent, Approximate and conditional Entropy), a significant change towards a loss of physiological chaotic cardiac behaviour was detected. CONCLUSIONS: The NIPE index seems to be not reliable to assess acute pain in the preterm infant, but other HRV indices could be explored as additional tools next to pain scales in NICUs. SIGNIFICANCE: The NIPE monitor was developed for objective pain assessment in neonates based on HFnu variations, but it does not seem reliable enough for assessing acute pain in real time in preterm neonates. Pain assessment in preterm babies still relies on pain scales.
Assuntos
Dor Aguda/diagnóstico , Medição da Dor/métodos , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , NeonatologiaRESUMO
Progressive cerebellar ataxias are well-known hereditary neurological disorders. Among them, spinocerebellar ataxia type 7 (SCA7) is inherited as an autosomal dominant trait and is ascribed to the expansion of a CAG trinucleotide repeat within the ATXN7 gene. An anticipation phenomenon can occur during paternal transmission and sometimes is responsible for a severe infantile form. The specificity of SCA7 is the retinal involvement with retinitis pigmentosa and cone rod dystrophy. We describe a familial form with two siblings who died of a severe infantile form. Diagnosis was made in their father, who had a recent history of macular atrophy and presented with gait disturbance thereafter. Retrospectively, substantial triplet repeat expansion was confirmed in the two affected infants. These infantile forms are rare and difficult to diagnose in the absence of suggestive family symptoms.
Assuntos
Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genética , Ataxina-7/genética , Encéfalo/diagnóstico por imagem , Evolução Fatal , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Linhagem , Expansão das Repetições de TrinucleotídeosRESUMO
INTRODUCTION: The blood count provides qualitative and quantitative essential information on bloodlines. Reference hematologic parameters have been established in children and neonates, but few data are available regarding the premature population during the first month of life. The main objective of this study was to establish normative values for blood parameters for premature infants born between 26 and <37 weeks of gestation, during the first month of life, taking into account gestational and postnatal age and treatments that can impact the threshold values. METHODS: A single-center retrospective study was conducted based on the clinical and laboratory data of preterm infants born between January 1, 2012 and December 31, 2013 and hospitalized in the intensive care, neonatal, and maternity units of University Hospital of Saint Etienne (France). Data were collected by crossing the PMSI database (date of birth and gestational age), the administrative patient database (IPP), and the pre-analytical laboratory database. Anthropometric and clinical data were extracted for both mother and child. The samples were all made from central or peripheral venous blood. All blood parameters were taken into account. RESULTS: The degree of prematurity is a factor greatly influencing the values of the blood parameters at birth. All three blood lines increase in proportion to gestational age. We were able to highlight for some blood parameters specific kinetic profiles according to gestational age. CONCLUSION: Blood parameters of preterm neonates depend on both the degree of prematurity, postnatal age, and perinatal treatments. A good knowledge of these physiological variations may help target transfusion or therapeutic indications in everyday practice.
Assuntos
Bases de Dados Factuais , Idade Gestacional , Recém-Nascido Prematuro/sangue , Contagem de Células Sanguíneas , Feminino , Humanos , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
INTRODUCTION: The emotional process is characterized by a negative bias in depression, thus it was legitimate to establish if they same is true in very young at-risk children. Furthermore, sleep, also proposed as a marker of the depression risk, is closely linked in adults and adolescents with emotions. That is why we wanted first to better describe the characteristics of emotional recognition by 3-year-olds and their links with sleep. Secondly we observed, if found at this young age, an emotional recognition pattern indicating a vulnerability to depression. MATERIAL AND METHOD: We studied, in 133 children aged 36 months from the AuBE cohort, the number of correct answers to the task of recognition of facial emotions (joy, anger and sadness). Cognitive functions were also assessed by the WPPSI III at 3 years old, and the different sleep parameters (time of light off and light on, sleep times, difficulty to go to sleep and number of parents' awakes per night) were described by questionnaires filled out by mothers at 6, 12, 18, 24 and 36 months after birth. Of these 133 children, 21 children whose mothers had at least one history of depression (13 boys) were the high-risk group and 19 children (8 boys) born to women with no history of depression were the low-risk group (or control group). RESULTS: Overall, 133 children by the age of 36 months recognize significantly better happiness than other emotions (P=0.000) with a better global recognition higher in girls (M=8.8) than boys (M=7.8) (P=0.013) and a positive correlation between global recognition ability and verbal IQ (P=0.000). Children who have less daytime sleep at 18 months and those who sleep less at 24 months show a better recognition of sadness (P=0.043 and P=0.042); those with difficulties at bedtime at 18 months recognize less happiness (P=0.043), and those who awaken earlier at 24 months have a better global recognition of emotions (P=0.015). Finally, the boys of the high-risk group recognize sadness better than boys in the control group (P=0.015). CONCLUSION: This study confirms that the recognition of emotion is related to development with a female advantage and a link with the language skills at 36 months of life. More importantly, we found a relationship between sleep characteristics and emotional recognition ability and a negative bias in emotional recognition in young males at risk for depression.
Assuntos
Depressão/etiologia , Emoções , Expressão Facial , Reconhecimento Psicológico/fisiologia , Sono/fisiologia , Pré-Escolar , Estudos de Coortes , Depressão/diagnóstico , Depressão/psicologia , Feminino , Humanos , Masculino , Mães/psicologia , Psicologia da Criança , Fatores de RiscoRESUMO
ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease. A newborn of consanguineous parents of Algerian descent presented cholestatic jaundice, dehydration, and Fanconi syndrome at 10 days of life. The blood smear showed a very characteristic gray appearance of platelets. A homozygous mutation was evidenced in the VPS33B gene. This gene codes for a protein involved in trafficking of intracellular vesicles. The mutation (c.604-2A>G) present in the heterozygous state in the parents affects an invariant base of the splice acceptor site and to our knowledge has not been reported yet. This child died at the age of 3 months. Prenatal diagnosis was offered to the family; another pregnancy was carried to completion and a girl was born without the disease. The combination of cholestasis and proximal tubulopathy should suggest the diagnosis in a newborn with orthopedic problems. A blood smear greatly facilitates diagnosis.
Assuntos
Artrogripose/genética , Colestase/genética , Fenótipo , Insuficiência Renal/genética , Artrogripose/diagnóstico , Artrogripose/terapia , Colestase/diagnóstico , Colestase/terapia , Consanguinidade , Análise Mutacional de DNA , Evolução Fatal , Triagem de Portadores Genéticos , Aconselhamento Genético , Homozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Doenças Raras , Insuficiência Renal/diagnóstico , Insuficiência Renal/terapia , Proteínas de Transporte Vesicular/genéticaRESUMO
BACKGROUND: Knowledge of drug tolerance and safety in children is limited. The study of spontaneous notifications of adverse events (AEs) can be an important source of information. OBJECTIVE: Describe the characteristics of drug adverse effects (DAEs) in children 0-17 years of age reported to the pharmacovigilance center of Saint-Étienne in 2004-2013. METHODS: This retrospective descriptive study was conducted based on DAE notifications, classified according to age, sex, severity of organ affected (using classification by the System organ class [SOC]) and by suspected drug (Anatomical therapeutic chemical [ATC] drugs). RESULTS: A total of 371 notifications were analyzed. The male:female ratio was 1. Serious cases accounted for 36%, of which 73% resulted in hospitalization or prolongation of hospitalization. The most frequent DAEs were cutaneous (21.1%), infection (13.5%) and general (11.5%). The most frequently involved therapeutic classes were anti-infectives for systemic use (38.7%), mainly vaccines and antibiotics, as well as antineoplastic and immunomodulatory therapy (19.2%) and drugs acting on the nervous system (12.5%). CONCLUSIONS: The analysis of notifications of adverse drug reactions is an important source of information and is underutilized in pediatrics. The data from this study confirm those of European databases with spontaneous reporting. The majority of anti-infectives including antibiotics raises the question of the proper use of this class in this population. Larger studies focused on the drugs at risk would improve the knowledge and safe use of medicines in children.
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Antibacterianos/efeitos adversos , Antineoplásicos/efeitos adversos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Fatores Imunológicos/efeitos adversos , Farmacovigilância , Vacinas/efeitos adversos , Adolescente , Anti-Infecciosos/efeitos adversos , Criança , Pré-Escolar , Feminino , França/epidemiologia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Risco , Distribuição por SexoRESUMO
Neonatal seizure incidence is approximately 3.5/1000 live births. Inborn metabolic diseases account for approximately 1-4% of neonatal seizure cases. Among them, the catabolism anomaly of sulfite to sulfate caused by sulfite oxidase or cofactor molybdenum deficiency (MoCD) is a rare metabolic disorder in which neurological damage is similar to that found in neonatal asphyxia. We report the case of a newborn child with a MoCD. Born of related parents, this child had intrauterine growth retardation predominating on size diagnosed in the third trimester of pregnancy. After an uneventful birth, he presented convulsions at the 12th hour of life, confirmed by an electroencephalogram. Anticonvulsants and adjuvant treatments were ineffective; the child then required intubation at day 5 of life. The initial biological assessment found an elevated blood lactate level and the chromatography of amino acids showed a significant decrease of cystine and the abnormal presence of sulfocysteine, suggestive of a lack of sulfite oxidase activity. The uric acid level measured secondarily was low, suggesting a MoCD. Brain MRI was performed at day 5 for diffuse ischemic injury of different ages. After limiting acute care, the child died at day 14 of life. The genetic study of the child found a homozygous mutation c.564+1G>A in the MOCS2 gene, confirming the diagnosis of MoCD, present in the heterozygous state in both parents. Investigations in a logical sequence quickly suggested the MoCD diagnosis in presence of a low plasma concentration of cysteine, the abnormal presence of sulfocysteine, and low uric acid levels. The diagnosis of sulfite oxidase deficiency was made. Until now, no treatment has proven effective but a new treatment appears to be effective in cases with a MOCS1 mutation.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/etiologia , Encefalopatias/etiologia , Erros Inatos do Metabolismo dos Metais/complicações , Sulfito Oxidase/deficiência , Humanos , Recém-Nascido , Masculino , Índice de Gravidade de DoençaRESUMO
Infantile pyknocytosis is a neonatal hemolytic disorder which causes anemia and icterus and is characterized by the presence of an increased number of distorted red blood cells called pyknocytes. Resolution spontaneously occurs in the first semester of life. It has been generally described as a rare entity, with an occasional family history. We report seven cases of infantile pyknocytosis observed in our hospital in 3 years. Most of the infants presented with hemolytic icterus and profound anemia that was reaching its peak by the 3rd week of life. Three neonates received one to three red blood cell transfusions, according to former recommendations. However, the following four received a treatment with recombinant erythropoietin administered subcutaneously. Only one of these four cases required a transfusion. All of them were free of hematological disease 2-3 months after completion of treatment. Infantile pyknocytosis is a recognized cause of neonatal hemolytic anemia, which requires careful examination of red cell morphology on a peripheral blood smear. The cause of this transient disorder remains unknown. Our observations show that recombinant erythropoietin therapy is effective in treating infantile pyknocytosis and increases the reticulocyte response, thus improving the hemoglobin level.
Assuntos
Anemia Hemolítica/terapia , Anemia Neonatal/terapia , Eritrócitos Anormais/patologia , Eritropoetina/uso terapêutico , Transfusão de Eritrócitos , Feminino , Humanos , Lactente , Recém-Nascido , MasculinoRESUMO
Soft infant carriers such as slings have become extremely popular in the west and are usually considered safe. We report 19 cases of sudden unexpected death in infancy (SUDI) linked to infant carrier. Most patients were healthy full-term babies less than 3 months of age, and suffocation was the most frequent cause of death. CONCLUSION: Infant carriers represent an underestimated cause of death by suffocation in neonates. WHAT IS KNOWN: ⢠Sudden unexpected deaths in infancy linked to infant carrier have been only sparsely reported. WHAT IS NEW: ⢠We report a series of 19 cases strongly suggesting age of less than 3 months as a risk factor and suffocation as the mechanism of death.
Assuntos
Asfixia/etiologia , Causas de Morte , Equipamentos para Lactente/efeitos adversos , Morte Súbita do Lactente/etiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fatores de RiscoRESUMO
Severe combined immune deficiencies (SCIDs) are a heterogeneous group of severe cellular immunodeficiencies. Early diagnosis is essential to allow adapted care before life-threatening systemic infections or complications associated with live vaccines. Adenosine deaminase 1 deficiency (ADA1) is an inborn error of metabolism leading to severe lymphopenia and characteristic bone lesions. Herein, we present the typical case of a child in whom ADA SCID was diagnosed at 2 months of life, revealed by lung involvement and extreme lymphopenia. Immune restoration in terms of peripheral lymphocyte count with enzyme replacement therapy, namely pegylated bovine ADA, is satisfactory so far. The search for a compatible donor is underway. Correcting the genetic defect by gene transfer is also being considered. The phenotype of this very rare condition is described. A severe peripheral lymphopenia in a young child is a finding of utmost importance for the diagnosis of a primary cellular immunodeficiency.
Assuntos
Adenosina Desaminase/deficiência , Agamaglobulinemia/diagnóstico , Doenças em Gêmeos/diagnóstico , Imunodeficiência Combinada Severa/diagnóstico , Feminino , Humanos , LactenteRESUMO
In France, nearly 500 infants still die unexpectedly every year. In 2009, the French Institute for Public Health Surveillance published a survey showing great heterogeneity in the management of sudden unexpected infant death (SUID) cases. The aim of this study was to evaluate the actual diagnostic approach to SUID in the different reference centers in France and to determine the degree to which the 2007 recommendations of the French National Authority for Health (Haute Autorité de santé [HAS]) are applied. We conducted a multicenter cross-sectional epidemiological study by email sent to the 36 SIDS reference centers with questions on examinations usually performed in SIDS cases. We also submitted six SUID test cases for death classification to the different reference physicians. Twenty-nine of 36 centers (80.5%) responded. Among the recommended tests, only blood cultures, analysis of cerebrospinal fluid, and a proposal to autopsy are done in 100% of the centers. Other investigations are not carried out systematically: skeleton radiography (65.5%), cranial CT scan (58%), eye fundus (20.7%), metabolic analysis (65.5%), and blood toxicology (62%). The main reasons for non-completion of these tests were hospital practices, lack of resources, technical difficulties, cost of tests, and difficulty in interpreting results (50% reported not knowing the postmortem biological standards). None of the institutions apply the HAS recommendations entirely. The classification of causes-of-death test cases also varied between the centers, with a maximum of 62% concordance in their responses. In 2013, in France, there is still substantial heterogeneity in the diagnostic set-up of SUIDS, a non-exhaustive implementation of the recommendations of the French National Authority for Health, and an unsatisfactory SUIDS classification tool because of considerable discordance between physicians. These results explain the current difficulties in obtaining reliable epidemiological data, because many teams do not use all the investigations recommended to find the cause of death. Therefore, the establishment of a national registry would provide accurate and up-to-date epidemiological, environmental, medical, and biological data to identify the events causing death and propose appropriate means of prevention.
Assuntos
Sistema de Registros , Morte Súbita do Lactente/diagnóstico , Estudos Transversais , Feminino , França , Humanos , Lactente , Masculino , Guias de Prática Clínica como Assunto , Morte Súbita do Lactente/epidemiologiaRESUMO
BACKGROUND: The number of visits to the pediatric emergency services has increased in the past 20 years in France and around the world, especially for neonates (under 28 days of age). OBJECTIVES: Determine for neonates the reasons requiring medical consultation in the emergency pediatric unit of Saint-Etienne University Hospital (France) and isolate the proportion of "non-urgent" preventable consultations that could be managed outside of emergency units. METHOD: Epidemiological, retrospective study on computerized data on neonates who were referred to the pediatric emergency unit of the Saint-Étienne University Hospital from 1 January to 31 December 2011. Four composite criteria "child not addressed by a healthcare professional; severity score G1, G2, G3 based on an internal scale; no further review undertaken; and return home" were used to define "non-urgent" consultations. RESULTS: A total of 419 infants were included in the study. The leading reasons for consultations were crying (14.1%), vomiting (11.9%), chest tightness (10.7%), fever (8.1%), and diarrhea (7%). The main diagnoses were acute nasopharyngitis (11.5%), gastroesophageal reflux (10%), colic (8.1%), and excessive parental anxiety (7.6%). The percentage of "non-urgent" consultations was 52.4%. CONCLUSIONS: Final diagnoses are quite similar to the reasons for consultation. The baby's unexplained crying and the inexperience of young parents resulted in an irrational anxiety. This study highlights the need for parental support at home after discharge from the maternity ward and the use of large-scale educational initiatives.
Assuntos
Serviço Hospitalar de Emergência/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Estudos Epidemiológicos , Feminino , França , Humanos , Recém-Nascido , Masculino , Pediatria , Estudos RetrospectivosRESUMO
GACI (generalized arterial calcification of infancy) is a rare autosomal recessive disorder characterized by arterial and periarticular calcifications. Most children die in the first months of life of cardiovascular complications. Hypophosphatemic rickets (HR) resistant to medical treatment may complete the phenotype and is associated with a milder phenotype. This report discusses the case of a girl who presented neonatal ectopic periarticular calcifications with spontaneous regression, and then at the age of 3 years developed HR. There was no clinical improvement after treatment with calcitriol and phosphate, and correction of alkaline phosphatase induced the recurrence of periarticular and tissular calcifications : the treatment was reduced and the bone distortion treated by surgery. GACI diagnosis was confirmed by genetic analysis. At the age of 4.5 years, she developed a retinal abnormality and decreased radial pulse: these clinical signs are usually observed in pseudoxanthoma elasticum (PXE). It is now established that GACI and PXE belong to the same entity characterized by arterial and tissular calcifications of which this original case report is an illustration.
Assuntos
Calcificação Vascular/congênito , Calcificação Vascular/diagnóstico , Criança , Feminino , Humanos , Recém-Nascido , Mutação , Diester Fosfórico Hidrolases/genética , Pseudoxantoma Elástico/diagnóstico , Pirofosfatases/genética , Raquitismo Hipofosfatêmico/diagnóstico , Raquitismo Hipofosfatêmico/genética , Calcificação Vascular/genéticaRESUMO
We report a case of clonidine poisoning in a breastfed newborn. At 2 days of life, this boy presented a consciousness deficit with drowsiness, hypotonia, and suspected generalized seizures. There were no cardiorespiratory problems outside of progressive central apneas beginning the 5th day. Further initial investigations were normal (extensive biological exams, cranial ultrasonography and transfontanellar Doppler, electroencephalography, and brain MRI study), excluding the main causes of neonatal hypotonia (encephalitis, infection, metabolic disorder). However, new medical questioning revealed maternal daily intake of 0.15 mg clonidine for hypertension during and after pregnancy. Since it was impossible to quantify clonidine quantification in newborn serum and breast milk, a weaning test was performed the 9th day. Twenty-four hours after cessation of breastfeeding, complete regression of symptoms was obtained. Poisoning by clonidine after fetal and neonatal exposure through breast milk is rare but severe enough to simulate a neurological disease. Diagnosis is based on the search for drug use and the cessation of breastfeeding if doubt persists. Recovery of normal examination results is then rapid and complete.
Assuntos
Clonidina/farmacocinética , Clonidina/intoxicação , Transtornos da Consciência/induzido quimicamente , Hipertensão Induzida pela Gravidez/sangue , Hipertensão Induzida pela Gravidez/tratamento farmacológico , Troca Materno-Fetal/fisiologia , Leite Humano/metabolismo , Hipotonia Muscular/induzido quimicamente , Fases do Sono/efeitos dos fármacos , Clonidina/uso terapêutico , Transtornos da Consciência/sangue , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Convulsões/sangue , Convulsões/induzido quimicamente , Apneia do Sono Tipo Central/sangue , Apneia do Sono Tipo Central/induzido quimicamenteRESUMO
OBJECTIVES: To describe the ultrasonographic (US) and fetal karyotyping data of fetuses with cystic hygroma diagnosed in the first trimester. PATIENTS & METHODS: Maternal and fetal data of 69 consecutive fetal cystic hygroma were analysed between 2002 and 2009. RESULTS: The mean size of the cystic hygroma was 6.3 mm ± 2.4 mm. US abnormalities were present in 54% of cases (37/69) (essentially hydrops fetalis in 45%), with an unfavourable prognosis (P=0.006). Chromosomal abnormalities were present in 53% of cases (36/68) (including 44% of Down syndrome). The rate of unfavourable outcome of pregnancy was 71% of cases (49/69) and was associated with the oldest mothers (P=0.011). In the chromosomally normal pregnancies, there were 59% (19/32) fetus with no apparently abnormalities. Among these 19 children, 13 have been followed up until an average age of 5 years and a half, the infant development was strictly normal. DISCUSSION AND CONCLUSION: The current results suggest to look for the poor prognosis data: nuchal thickness superior to 6 to 6,5 mm, presence of a hydrops fetalis and/or US abnormalities, fetal karyotyping and/or US evolution of cystic hygroma.
Assuntos
Aberrações Cromossômicas , Hidropisia Fetal/diagnóstico , Linfangioma Cístico/diagnóstico , Diagnóstico Pré-Natal/métodos , Prognóstico , Adulto , Pré-Escolar , Feminino , Feto , Humanos , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/genética , Cariotipagem , Linfangioma Cístico/diagnóstico por imagem , Linfangioma Cístico/genética , Gravidez , Resultado da Gravidez , Primeiro Trimestre da Gravidez , UltrassonografiaRESUMO
The high frequency of bradycardia observed during the neonatal period requires cardiac monitoring but also understanding its intrinsic mechanisms, including responsiveness of the autonomic nervous system (ANS). Heart rate variability and spontaneous baroreflex analysis can help understand the autonomic dysregulation of cardiorespiratory control, possibly responsible for sudden infant death. In clinical neonatology practice, neonatal bradycardia does not warrant continuation of monitoring if it remains isolated, asymptomatic, and short (<10 s), followed by a rapid cardiac acceleration indicating an adapted sympathetic response. Further evaluation of ANS responsiveness is possible for newborns including analyzing the complexity of the heart rate and respiratory variability. This allows better targeting children with high risk after discharge. The real-time evaluation of autonomic regulation could become a valuable tool in clinical practice.