Importancia de la resonancia magnética en la encefalopatía bilirrubínica / Importance of magnetic resonance imaging in bilirubin encephalopathy

Con el objetivo de resaltar el valor diagnóstico de la resonancia magnética en la encefalopatía bilirrubínica se presenta el caso clínico de un recién nacido de 37 semanas de edad gestacional que reingresa al octavo día de vida por ictericia constatándose cifras de bilirrubina indirecta de 30,1 mg/dl. La disminución de las mismas se logró con exanguinotransfusión, fototerapia intensiva y adecuado aporte. Se solicita resonancia magnética de cráneo que informa, a nivel de ambos globos pálidos y subtalámico, un aumento de la señal en T1 y T2; contribuyendo al diagnóstico de encefalopatía bilirrubínica aguda.

In order to highlight the value of magnetic resonance imaging in the diagnosis of bilirubin encephalopathy, the clinical case of a 37 week of gestational age newborn is presented. The newborn was readmitted to hospital with jaundice on the eighth day of life, indirect bilirubin being 30.1 mg/dl. This level was decreased with exchange transfusion, intensive phototherapy and the appropriate oral supply. Magnetic resonance imaging of the skull was requested, revealing T1 and T2 hyperintensity within the globus pallidus, and the subthalamic nuclei; which contributed to the diagnose of acute bilirubin encephalopathy.

Encefalopatía por Kernicterus. serie clínica / Kernicterus (bilirubin encephalopathy): case reports

Introducción: La ictericia es común en los recién nacidos (RN). Niveles de bilirrubina a partir de 20 mg/dL (en RN de término) pueden causar parálisis cerebral coreoatetósica, hipoacusia sensorioneural, trastornos de la mirada y displasia del esmalte dental, cuadro clínico conocido como kernicterus. Objetivo: Describir 5 casos de kernicterus controlados en una Unidad de Neurología, entre los años 2002-2012. Casos clínicos: Se presentan 5 niños con edades gestacionales entre 35 y 39 semanas, con peso de nacimiento rango 2.580 y 4.250 g y niveles de bilirrubina entre 24 y 47 mg/dL. Dos RN estaban en su domicilio cuando iniciaron la encefalopatía aguda. Todos se trataron con fototerapia y en 3 casos se realizó además exanguineotransfusión. La edad del diagnóstico de kernicterus fluctuó entre los 12 días y 10 años (3 pacientes se diagnosticaron en etapa neonatal) con una resonancia magnética que demostró impregnación de ganglios basales. Todos evolucionaron con trastornos del movimiento de severidad variable. En 3 pacientes se diagnosticó hipoacusia sensorioneural y en dos hubo trastornos de la mirada. Los test psicométricos evaluaron retraso cognitivo en 3 pacientes y desarrollo normal en los restantes. Conclusión: El kernicterus en una enfermedad devastadora que aún está presente en la realidad nacional. Es una causa de parálisis cerebral prevenible, por lo cual es necesario educar a los padres, población y equipo de salud para la detección precoz y tratamiento oportuno de la hiperbilirrubinemia neonatal.

Introduction: Jaundice is common in newborn babies (NB). Bilirubin levels of 20 mg/dL or higher may cause choreoathetoid cerebral palsy, sensorineural hearing loss, eye disorders and enamel dysplasia in term infants; clinical picture compatible with kernicterus. Objective: To describe five cases of kernicterus treated at a Neurology Unit between 2002 and 2012. Case reports: Five cases of babies with gestational ages between 35 and 39 weeks, birth-weight ranging from 2580 to 4250 grams and bilirubin levels between 24 and 47 mg/dL are presented. Two infants were at home when acute encephalopathy developed, all were treated with phototherapy and 3 of them underwent exchange transfusion. The age of diagnosis of kernicterus was between 12 days to 10 years; three patients were diagnosed in neonatal period through MRI that revealed basal ganglia impregnation. All patients evolved presenting movement disorders of varying severity. Three of them were diagnosed with sensorineural hearing impairments and two presented eye disorders. Psychometric tests showed cognitive delay in three patients and normal development in the remaining children. Conclusion: Kernicterus in a devastating disease present in the national reality. It is a preventable cause of cerebral palsy; therefore, it is necessary to educate parents, population and health care professionals about neonatal hyperbilirubinemia early detection and treatment.

Estimación visual de la ictericia neonatal y detección del riesgo de hiperbilirrubinemia significativa / Visual estimate of clinical jaundice and detection of the risk of significant hyperbilirubinemia

La predicción del riesgo de hiperbilirrubinemia significativa a través de la medición de una bilirrubina previa al alta ha sido validada en neonatos. La estimación visual de la extensión de la ictericia es comúnmente usada para la decisión de la obtención de la prueba de bilirrubina. Determinar la confiabilidad de la evaluación visual de la ictericia en la detección del riesgo de hiperbilirrubinemia significativa. 123 neonatos fueron examinados antes del alta por un pediatra quien asignó la extensión de la ictericia según su progresión céfalo-caudal. Una medida simultánea de bilirrubina transcutánea fue hecha por otro observador. Luego se comparó la calificación del riesgo de hiperbilirrubinemia significativa por ambos métodos, a través de un nomograma clasificado por zonas de riesgo. Resultados: El porcentaje de coincidencia global en relación a la designación de riesgo por ambos métodos fue 73%, pero esta proporción decreció a 56,3% cuando se analizó sólo para las zonas de alto riesgo. De hecho, 18 (43,7%) de los 32 neonatos calificados de alto riesgo por la prueba transcutánea fueron erróneamente identificados por la evaluación visual como niños de bajo riesgo. A pesar de que la concordancia general entre la estimación visual de la ictericia y la bilirrubina real es aceptable, la confiabilidad de la valoración visual como el procedimiento primario para identificar el riesgo de una hiperbilirrubinemia significativa es limitada. La detección de la severidad de la ictericia debe basarse en otros métodos, como la medición de la bilirrubina sérica o transcutánea

Pre-discharge bilirrubin percentiles have proved to be useful in predicting which infants will develop significant neonatal hyperbilirubinemia. The extent of clinical jaundice is commonly used to decide when to take a sample test for serum bilirubin. To determine the reliability of visual assessment of jaundice in the identification of the risk of significant hyperbilirubinemia. Clinical estimate of cephalocaudal progression of jaundice was carried out by a pediatrician in 123 neonates. Transcutaneous bilirubin (TCB) was simultaneously measured by an independent observer. Measurements by both methods were plotted into a nomogram stratified by risk zones to determine their level of agreement as to the classification of the risk. General agreement between the two measurements was 73%. However, this proportion decreased to 56.3% when only high-risk zones were analyzed. In fact, 18 (43.7%) of the 32 infants with transcutaneous bilirubin levels in high-risk zones were missclasified as low-risk cases by visual estimate. Although there was good general agreement between clinical evaluation of jaundice and TCB, visual assessment was not fully reliable as a primary screening method to identify significant hyperbilirubinemia. Further means should be used to support decisions regarding this risk, such as serum bilirubin sampling or transcutaneous bilirubin

Kernicterus as a 'Never-Event': a newborn safety standard?

Kernicterus, preventable in most cases but with untreatable and tragic sequelae, is a matter of public health concern that requires implementation of safer community healthcare standards to prevent its occurrence.

Newborn jaundice and kernicterus--health and societal perspectives.

Kernicterus, a preventable injury to the brain from severe neonatal jaundice, has re-emerged in the United States as a public and societal health concern. Kernicterus, in its usually recognized form, causes devastating disabilities, including athetoid cerebral palsy and speech and hearing impairment. This condition not only ranks amongst the highest cost per new case (per CDCs Financial Burden of Disability study, 1992), but also results in profound and uncompromising grief for the family and loss to siblings of healthy, talkative playmates. And for the child with kernicterus (usually remarkably intelligent, but trapped in an uncontrollable body), grief and frustration are enormous. In 2001 national healthcare organizations, including Centers for Disease Control (CDC), the Joint Commission for the Accreditation of Healthcare Organizations (JACHO) and the American Academy of Pediatrics (AAP) issued alerts to all accredited hospitals and public health professionals in the United States that all healthy infants are at potential risk of kernicterus if their newborn jaundice is unmonitored and inadequately treated. The re-emergence of kernicterus in the United States is the result of interacting phenomena including (a) Early hospital discharge (before extent of jaundice is known and signs of impending brain damage have appeared); (b) Lack of adequate concern for the risks of severe jaundice in healthy term and near newborns; (c) An increase in breast feeding; (d) Medical care cost constraints; (e) Paucity of educational materials to enable parents to participate in safeguarding their newborns; and (f) Limitations within in healthcare systems to monitor the outpatient progression of jaundice. A multidisciplinary approach that encompasses both healthcare and societal needs should be evaluated at a national level for practical and easy to implement strategies. An approach that is based on principles of evidence-based medicine, patient-safety and family centeredness is presented in this article. These strategies should also be based on public awareness campaign such that the healthcare providers can attempt to achieve a "Zero Tolerance of Kernicterus" and thereby decrease both childhood disabilities and infant mortality within the community.

Ictericia neonatal I. fisiopatología, etiología, diagnóstico y encefalopatía bilirrubínica / Neonatal jaindice I. phisiology, etiology, diagnosis, and bilirubin encephalopathy

La ictericia neonatal es uno de los principales problemas a que se enfrentan los pediatras y neonatólogos en la consulta externa y en las áreas de urgencias y hospitalización. Decidir cuándo esta ictericia es fisiológica y cuándo requiere un abordaje completo a fin de determinar el origen y establecer el tratamiento adecuado, es uno de los retos más grandes en los últimos años debido a la falta de consenso entre los diferentes grupos de especialistas. En esta revisión se presentan aspectos de fisiopatología para entender mejor los mecanismos de producción de hiperbilirrubinemia indirecta en el neonato, se analizan las principales causas de ésta y se hace hincapié en los problemas hemolíticos y los conceptos actuales con relación a la ictericia por leche materna. Asimismo se presentan algunas entidades no tan comunes pero que deben considerarse en el diagnóstico diferencial de estos pacientes. Se presentan de manera modificada las recomendaciones de 1994 de la Academia Americana de Pediatría para el abordaje diagnóstico de estos niños al tomar en cuenta las características particulares de nuestra población y también se analizan los mecanismos implicados en la encefalopatía bilirrubínica, el cuadro clínico y algunas controversias relacionadas con el neurodesarrollo de estos niños.

Clinical significance of serum and cerebro spinal fluid bilirubin indices in neonatal jaundice.

To assess the value of unbound bilirubin (UB) and saturation index (SI) in serum and CSF as indicators of Kernicterus, we studied 50 icteric neonates (serum indirect bilibrubin (IB) greater than or equal to 7 mg/dl) and 20 controls (IB less than 7 mg/dl) during the first week of life. Serum and CSF were obtained simultaneously in all neonates. Of 36 neonates with IB greater than 12 mg/dl 19 had evidence of kernicterus. UB was estimated by Sephadex gel filtration and SI by salicylate displacement technique. Positive correlation (r = +0.85) was obtained between serum and CSF UB levels. There was a significant difference (p less than 0.05) between mean serum and CSF UB levels in kernicterus and non-kernicterus neonates (kernicterus serum UB = 0.71 +/- 0.22) mg/dl, CSF UB = 0.16 +/- 0.06 mg/dl: non-kernicteric serum UB = 0.40 +/- 0.10 mg/dl, CSF UB = 0.10 +/- 0.03 mg/dl). A critical serum UB level 0.5 mg/dl and a danger zone of CSF UB (0.1 to 0.15 mg/dl) was observed in presence of kernicterus. Neonates with kernicterus and 30% non-kernicteric had serum SI greater than or equal to 8. Mean values of serum and CSF SI were comparable in all neonates. The serum and CSF UB and SI, and the mean percentage cross over of UB from serum to CSF when statistically compared were not significantly influenced by risk factors.