RESUMEN
Wolff-Parkinson-White (WPW) syndrome is a rare cardiac condition arising from abnormal embryologic development of the annulus fibrosus in combination with the cardiac conduction system. The abnormality results in the development of accessory pathways and preexcitation changes which can provoke episodes of tachyarrhythmias. The most common presentation of WPW syndrome is supraventricular tachycardia. Beyond customary abortive therapy, chronic management strategies vary based upon timing and clinical severity of the initial disease presentation. Prompt diagnosis and rate control have a dramatic impact on the outcomes of morbidity and mortality. The purpose of this article is to present a case study of a preterm infant who manifested with WPW syndrome. Additionally, the article will explore the pathophysiology of WPW syndrome and the timing and presentation of common clinical manifestations of the disease, along with current diagnostic and treatment strategies to achieve optimal patient outcomes in the neonatal population.
Asunto(s)
Recien Nacido Prematuro , Síndrome de Wolff-Parkinson-White , Humanos , Síndrome de Wolff-Parkinson-White/diagnóstico , Síndrome de Wolff-Parkinson-White/fisiopatología , Síndrome de Wolff-Parkinson-White/terapia , Recién Nacido , Electrocardiografía , Masculino , FemeninoRESUMEN
Respiratory distress in the newborn is associated with numerous etiologies, some common and some rare. When respiratory distress is accompanied by laterality defects, namely, situs inversus (SI), the index of suspicion for comorbid primary ciliary dyskinesia (PCD) should be raised. Primary ciliary dyskinesia is characterized by ciliary dysmotility and the accumulation of thick secretions in the airways that obstruct air and gas exchange. Neonatal clinicians should know that while PCD is definitively diagnosed in infancy or early childhood, findings suspicious for PCD should be communicated to primary care providers at discharge from the hospital to facilitate timely subspecialty involvement, diagnosis, and treatment. This article will present a case report of a term newborn with SI totalis who was later diagnosed with PCD. We will discuss epidemiology, pathophysiology, clinical manifestations, and diagnostics, followed by management strategies. Additionally, we discuss the outpatient needs and lifespan implications.
Asunto(s)
Síndrome de Kartagener , Situs Inversus , Humanos , Recién Nacido , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/terapia , Síndrome de Kartagener/fisiopatología , Síndrome de Kartagener/complicaciones , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/etiología , Síndrome de Dificultad Respiratoria del Recién Nacido/terapia , Situs Inversus/diagnósticoRESUMEN
Neonatal hypoglycemia (NH) is broadly defined as a low plasma glucose concentration that elicits hypoglycemia-induced impaired brain function. To date, no universally accepted threshold (reference range) for plasma glucose levels in newborns has been published, as data consistently indicate that neurologic responses to hypoglycemia differ at various plasma glucose concentrations. Infants at risk for NH include infants of diabetic mothers, small or large for gestational age, and premature infants. Common manifestations include jitteriness, poor feeding, irritability, and encephalopathy. Neurodevelopmental morbidities associated with NH include cognitive and motor delays, cerebral palsy, vision and hearing impairment, and poor school performance. This article offers a timely discussion of the state of the science of NH and recommendations for neonatal providers focused on early identification and disease prevention.
Asunto(s)
Hipoglucemia , Humanos , Hipoglucemia/etiología , Hipoglucemia/diagnóstico , Recién Nacido , Glucemia/análisis , Glucemia/metabolismo , Enfermería Neonatal/normas , Enfermería Neonatal/métodos , Enfermedades del Recién Nacido/diagnósticoRESUMEN
Although a rare cause of neonatal seizures, inborn errors of metabolism (IEMs) remain an essential component of a comprehensive differential diagnosis for poorly controlled neonatal epilepsy. Diagnosing neonatal-onset metabolic conditions proves a difficult task for clinicians; however, routine state newborn screening panels now include many IEMs. Three in particular-pyridoxine-dependent epilepsy, maple syrup urine disease, and Zellweger spectrum disorders-are highly associated with neonatal epilepsy and neurocognitive injury yet are often misdiagnosed. As research surrounding biomarkers for these conditions is emerging and gene sequencing technologies are advancing, clinicians are beginning to better establish early identification strategies for these diseases. In this literature review, the authors aim to present clinicians with an innovative clinical guide highlighting IEMs associated with neonatal-onset seizures, with the goal of promoting quality care and safety.
Asunto(s)
Convulsiones , Humanos , Recién Nacido , Convulsiones/diagnóstico , Tamizaje Neonatal/métodos , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/complicaciones , Diagnóstico Diferencial , Enfermedad de la Orina de Jarabe de Arce/diagnóstico , Enfermedad de la Orina de Jarabe de Arce/complicacionesRESUMEN
Tracheoesophageal fistula (TEF) with or without esophageal atresia (EA) results from maldevelopment of the trachea and esophagus during maturation of the primitive foregut. EA/TEF commonly presents shortly after birth because of increased oral secretions and the inability to advance a nasogastric or orogastric tube to the proper depth. Given that prenatal diagnosis is uncommon and early intervention is important to reduce morbidity and mortality risk, early recognition and diagnosis are imperative. We present a case series of two neonates diagnosed with EA/TEF, type "C" and type "E," born at low-acuity centers, who required transport to a tertiary center for surgical support. The pathophysiology as well as types of TEFs, symptomology, stabilization goals, corrective treatment, and long-term implications will be examined. Finally, the educational needs of parents and caregivers will be discussed.
Asunto(s)
Atresia Esofágica , Fístula Traqueoesofágica , Humanos , Recién Nacido , Atresia Esofágica/complicaciones , Atresia Esofágica/diagnóstico , Atresia Esofágica/terapia , Tráquea , Fístula Traqueoesofágica/diagnóstico , Fístula Traqueoesofágica/terapiaRESUMEN
Cytomegalovirus (CMV), a beta-herpes virus, is the most common viral infection in infants. Transmission may occur congenitally (cCMV) or postnatally (pCMV). Early detection and intervention are crucial in reducing morbidities, notable developmental delays, and sensorineural hearing loss. However, more than 90% of infants are asymptomatic at birth. Treatment involves intravenous ganciclovir or the oral prodrug, valganciclovir, drugs usually reserved for use with symptomatic infants because of the toxicity profile. Research currently supports standardized antenatal CMV screening and treatment of affected pregnant patients with hyperimmune globulin as well as vaccination against CMV in unaffected pregnant patients, although widespread adoption is lacking. Standardized postnatal CMV screening is a proven, cost-effective way to detect and diagnose CMV and optimize outcomes across the lifespan. This article presents a case series of cCMV and pCMV and a review of the state of science of CMV as well as promising scientific advances that are on the horizon.
Asunto(s)
Infecciones por Citomegalovirus , Citomegalovirus , Femenino , Humanos , Recién Nacido , Embarazo , Antivirales/uso terapéutico , Infecciones por Citomegalovirus/diagnóstico , Infecciones por Citomegalovirus/tratamiento farmacológico , Ganciclovir/farmacología , Ganciclovir/uso terapéutico , Tamizaje Neonatal , Valganciclovir/farmacología , Valganciclovir/uso terapéuticoRESUMEN
Congenital syphilis (CS) infection occurs by way of vertical transmission of the bacteria Treponema pallidum from mother to fetus. While nearly eliminated by the turn of the twenty-first century, CS has resurged in recent years and currently represents a worldwide public health calamity secondary to insufficient prenatal care and inadequate maternal treatment. Fetal and neonatal consequences include stillbirth, cutaneous and visceral symptoms, asymptomatic infection, and death. Given the rise in cases in both wealthy and resource-poor areas, neonatal clinicians are obligated to maintain acumen specific to risk factors, manifestations, and treatment regimens. However, limited data guide postnatal treatment regimens, particularly in preterm neonates. We present a case report of a preterm female with CS and integrated review of the literature. Our findings indicate that CS is preventable through efficient and judicious perinatal screening, early detection, and adequate treatment of maternal syphilis during pregnancy.
Asunto(s)
Enfermedades Fetales , Enfermedades del Recién Nacido , Complicaciones Infecciosas del Embarazo , Sífilis Congénita , Sífilis , Recién Nacido , Embarazo , Femenino , Humanos , Sífilis Congénita/diagnóstico , Sífilis Congénita/tratamiento farmacológico , Sífilis/diagnóstico , Sífilis/tratamiento farmacológico , Complicaciones Infecciosas del Embarazo/diagnóstico , Complicaciones Infecciosas del Embarazo/terapia , Atención PrenatalRESUMEN
To date, 22q11.2 deletion syndrome (DS) is regarded as the most commonly diagnosed DS in humans. The location of the deletion on chromosome 22 affects the phenotypic presentation, which ranges from subtle to severe. Common manifestations include congenital heart defects, calcium deficiency, clefts and other midline defects, immunodeficiencies, and neurocognitive delay. This wide range of clinical manifestations can complicate diagnostic reasoning as many align with other disease processes commonly observed in preterm neonates. This article presents the case of a preterm neonate born at 25-weeks' gestation with 22q11.2 DS. The clinical presentation of this neonate included a right aortic arch, ventricular septal defect, hypocalcemia, borderline severe combined immunodeficiency, and abnormal thyroid function. The infant's hospital course is followed to highlight the challenges clinicians face when suspicious of a genetic disorder in a preterm neonate.
Asunto(s)
Síndrome de DiGeorge , Cardiopatías Congénitas , Defectos del Tabique Interventricular , Humanos , Recién Nacido , Deleción Cromosómica , Cromosomas Humanos Par 22 , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/terapia , Cardiopatías Congénitas/diagnóstico , Defectos del Tabique Interventricular/complicaciones , Defectos del Tabique Interventricular/genéticaRESUMEN
Cystic fibrosis (CF) is the most common genetic disorder in Caucasian individuals, with an incidence of 1/2,500-3,500 live births. When CF was first described in 1938, most children died in infancy. Currently, the average lifespan is 28-47.7 years. Although new breakthroughs have occurred, CF is still incurable. Both early diagnosis and treatment by multidisciplinary teams are essential to optimize short- and long-term outcomes. It is imperative for neonatal clinicians to keep up to date on the most current research, treatment, and management of CF to provide the best outcomes. This article offers clinicians an updated review of the pathophysiology and clinical manifestations of CF, as well as current evidence-based diagnostics and treatment regimens.
Asunto(s)
Fibrosis Quística , Humanos , Recién Nacido , Fibrosis Quística/diagnóstico , Fibrosis Quística/genética , Fibrosis Quística/terapia , IncidenciaRESUMEN
Relative adrenal insufficiency (AI) is a disease process commonly associated with preterm birth and critical illness. Further, the incidence of AI is inversely proportional to gestational age. The incidence of AI is likely underreported; however, it is reported to occur in 150-280/1,000,000 live births worldwide. Functional development of the adrenal gland does not occur until after 30 weeks of gestation; however, advances made in neonatal care increase the survivability of infants born well before this period. Among infants with AI, the adrenal gland is transiently incapable of secreting physiologic levels of cortisol in response to stressors. Common and nonspecific signs include hypotension, poor perfusion, and dysregulation of fluid, electrolytes, and euglycemia. Recognition, diagnosis, and steroid therapy is critical, as inappropriately managed AI can lead to an adrenal crisis, shock, and death. Understanding the presentation and common risk factors for developing relative AI is crucial for quick diagnosis and timely management to prevent morbidity and mortality in this vulnerable population.
Asunto(s)
Insuficiencia Suprarrenal , Nacimiento Prematuro , Glándulas Suprarrenales , Insuficiencia Suprarrenal/diagnóstico , Insuficiencia Suprarrenal/epidemiología , Insuficiencia Suprarrenal/etiología , Edad Gestacional , Humanos , Hidrocortisona , Lactante , Recién NacidoRESUMEN
Congenital hypothyroidism (CH) is a disorder of thyroid hormone deficiency which develops secondary to incomplete thyroid development or inadequate thyroid hormone production. State-mandated newborn screening throughout the United States has increased the detection rate of CH, allowing for early intervention. Although the overall mortality rate of CH is low, delayed or omitted treatment can lead to devastating neurocognitive outcomes. As such, CH is regarded as the leading cause of preventable intellectual disability in children. Early identification, facilitated by astute neonatal nursing and medical care, is contingent upon an active working knowledge of the disease process and awareness of the limitations of the newborn screen.
Asunto(s)
Hipotiroidismo Congénito , Discapacidad Intelectual , Niño , Hipotiroidismo Congénito/diagnóstico , Hipotiroidismo Congénito/terapia , Humanos , Recién Nacido , Tamizaje Neonatal , Estados Unidos/epidemiologíaRESUMEN
Chylothorax, a lymphatic flow disorder characterized by an abnormal circulation of lymph fluid into the pleural cavity, is the most common cause of pleural effusions during the neonatal period. This condition affects 1/15,000 neonates every year. Affected neonates often manifest with respiratory distress, electrolyte imbalances, sepsis, and even immunodeficiencies. Mortality risk is highest among neonates undergoing cardiac surgery as well as those with associated hydrops fetalis. Conservative treatment options include bowel rest with administration of parenteral nutrition, followed with medium-chain triglyceride enteral feedings, and octreotide therapy. Severe or persistent cases require surgical intervention. This can involve a unilateral or bilateral pleurectomy and thoracic duct ligation, with or without pleurodesis. Early identification and successful treatment of this condition is contingent upon awareness of the most current evidence and a timely cross-disciplinary approach to care.
Asunto(s)
Quilotórax , Derrame Pleural , Quilotórax/diagnóstico , Quilotórax/etiología , Quilotórax/terapia , Humanos , Hidropesía Fetal , Recién Nacido , Ligadura , PleurodesiaRESUMEN
Pulmonary hemorrhage (PH) is a pathology associated with significant morbidity and mortality, particularly among preterm infants in the NICU. The diagnosis is made when hemorrhagic secretions are aspirated from the trachea concurrent with respiratory decompensation that necessitates intubation or escalated support. The implementation of mechanical ventilation and widespread exogenous surfactant administration have significantly reduced respiratory morbidities. However, when PH develops, death remains the most common outcome. Treatment for PH remains primarily supportive; thus, a thorough understanding of underlying disease processes, manifestations, diagnostic testing, and current evidence is vital to enable early identification and proactive management to reduce morbidity and mortality.
Asunto(s)
Enfermedades Pulmonares , Surfactantes Pulmonares , Síndrome de Dificultad Respiratoria del Recién Nacido , Hemorragia/diagnóstico , Hemorragia/etiología , Hemorragia/terapia , Humanos , Recién Nacido , Recien Nacido Prematuro , Enfermedades Pulmonares/diagnóstico , Enfermedades Pulmonares/terapia , Surfactantes Pulmonares/uso terapéutico , Síndrome de Dificultad Respiratoria del Recién Nacido/tratamiento farmacológicoRESUMEN
Congenital diaphragmatic hernia (CDH) is a developmental defect in the diaphragm that allows abdominal viscera to herniate into the thoracic cavity. Pulmonary hypoplasia and pulmonary hypertension are consequences of this disease process. The incidence is approximately 2.4-4.1/10,000 births, and survival rate is estimated at 70-90 percent. To avoid potentially devastating delays in care, it is crucial that neonatal nurses and care providers in both tertiary and nontertiary care centers be familiar with the pathogenesis of CDH and the standard of care for initial stabilization of the neonate. Novel fetal and postnatal surgical repair techniques are also described here.
Asunto(s)
Hernias Diafragmáticas Congénitas , Femenino , Feto , Hernias Diafragmáticas Congénitas/diagnóstico , Hernias Diafragmáticas Congénitas/terapia , Humanos , Recién Nacido , Embarazo , Atención PrenatalRESUMEN
Arnold-Chiari malformation (ACM), a defect that involves downward displacement of the hindbrain and herniation of the cerebellar vermis, tonsils, pons, medulla, and fourth ventricle through the foramen magnum, is the most complex of the 4 types of Chiari malformations. Unique to the other types of Chiari malformations, approximately 95 percent of infants with ACM also present with an associated myelomeningocele (MMC), the most severe form of spina bifida. Among affected infants, those with symptomatic comorbidities incur a significantly higher morbidity and mortality risk. Prompt identification and diagnosis of ACM, as well as evidence-based postnatal and postsurgical nursing and medical care, is critical. Early surgical intervention can repair an existing MMC and restore proper cerebrospinal fluid circulation, which can dramatically improve patient outcomes and quality of life, and reduce disease and health care burden.
Asunto(s)
Malformación de Arnold-Chiari , Hidrocefalia , Meningomielocele , Malformación de Arnold-Chiari/diagnóstico , Malformación de Arnold-Chiari/cirugía , Humanos , Lactante , Calidad de VidaRESUMEN
BACKGROUND: Wolff-Parkinson-White (WPW) is a congenital defect of the cardiac conduction system (CCS), with proliferation of extra embryologic conduction pathways and rapid conduction of electrical impulses. The estimated neonatal incidence of 0.1% to 0.2% may be misrepresented secondary to missed or misdiagnosis. Undiagnosed WPW can result in sudden cardiac death. PURPOSE: To discuss the pathogenesis, manifestations, diagnosis, management, and lifespan implications of WPW in the prenatal and postnatal periods. METHODS/SEARCH STRATEGY: A literature review was conducted using PubMed, CINAHL, and Google Scholar (2013-2019). Search terms included (newborn OR infant), wolff parkinson white, pathogenesis, management, and ventricular preexcitation. After removal of duplicates, 267 references were identified, abstracts reviewed, and 30 publications fully evaluated. FINDINGS/RESULTS: Separation of the heart chambers begins around 7 weeks' gestation with formation of the annulus fibrosis complete after term. The unknown external environmental influence on the development of the preterm infant's CCS places neonates at risk for persistent atrioventricular reentrant tachycardia with WPW development. Ensuring an appropriate diagnosis is crucial, as an incorrect diagnosis could mean death. IMPLICATIONS FOR PRACTICE: Due to the rarity of WPW, any fetal or neonatal supraventricular tachycardia requires further evaluation with an electrocardiogram and involvement of an experienced cardiologist for diagnosis. One episode of supraventricular tachycardia warrants evaluation for WPW, as recurring episodes may result in irreversible damage. IMPLICATIONS FOR RESEARCH: The recommendations for treatment of WPW in the prenatal and immediate postnatal periods are based heavily on standards of care for the adult population. A paucity of evidenced-based literature exists and future research is crucial to understand the true incidence, physiologic effects, and lifespan implications of WPW on neonates.
Asunto(s)
Síndrome de Wolff-Parkinson-White , Adulto , Electrocardiografía , Sistema de Conducción Cardíaco , Frecuencia Cardíaca , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Síndrome de Wolff-Parkinson-White/diagnóstico , Síndrome de Wolff-Parkinson-White/terapiaRESUMEN
BACKGROUND: Neonatal alloimmune thrombocytopenia (NAIT) is defined as an uncommon platelet disorder caused by maternal alloimmunization to human-specific antigens (HPAs) that are paternally inherited, resulting in low fetal/neonatal platelet levels and debilitating effects on the newborn. The incidence of NAIT is 1 in every 1000 live births within the United States; it is the most common cause of severe thrombocytopenia (<30 × 109/L) and intracranial hemorrhage in term newborns. PURPOSE: The purpose of this article is to discuss the pathophysiology, clinical manifestations, diagnosis, and treatment of NAIT and its implications upon the lifespan of the neonate. METHODS: A literature review was conducted using PubMed, CINAHL, and Google Scholar (2014-2019). Search terms included NAIT, neonatal/fetal alloimmune thrombocytopenia, newborn platelets, and intracranial bleeding and NAIT. RESULTS: NAIT can affect first pregnancies and often goes undiagnosed until delivery. Universal screening tools with a focus on HPA-1a typing via noninvasive testing have been successfully trialed and have yielded promising results indicating a 75% reduction in risks associated with NAIT; however, none have been incorporated into practice and prophylactic treatment remains unavailable. IMPLICATIONS FOR RESEARCH: Adopting a universal screening tool and prophylaxis for NAIT would allow for early diagnosis and treatment in utero. IMPLICATIONS FOR PRACTICE: Many healthcare providers are not familiar with NAIT often focusing on other causes of thrombocytopenia as a potential diagnosis.