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Resumen: El término “kernicterus” se aplicó inicialmente a la tinción amarilla de los ganglios basales en estudios necrópsicos, pero es un término impreciso y se habla más de encefalopatía por bilirrubina o de disfunción neurológica inducida por la bilirrubina. Clínicamente la toxicidad por hiperbilirrubinemia puede ser muy variable y en países desarrollados tiende a desaparecer. Material y métodos: Revisamos una serie de 7 pacientes con encefalopatía por bilirrubina y diferentes grados de compromiso neurológico, atendidos en los últimos 10 años en el Servicio. Solo falleció un paciente en período neonatal con hiperbilirrubinemia, sepsis y fallo multiorgánico. Resultados: Las causas etiológicas de la hiperbilirrubinemia fueron muy variadas. Los 7 pacientes presentaron ictericia, clínica neonatal, la neuroimagen ya permitió demostrar las lesiones en núcleo pálido con hiperintensidad de T1. Todos los pacientes presentaron manifestaciones clínicas en período neonatal, y secuelas neurológicas más o menos graves en los 6 supervivientes que se intentan correlacionar con los demás parámetros bioquímicos, clínicos, de neuroimagen y neurofisiológicos. Conclusiones: Hemos constatado un incremento de las observaciones de disfunción neurológica inducida por la bilirrubina y nos planteamos conocer las causas de esta situación. La mayor supervivencia de los grandes prematuros, el aumento de la población inmigrante y la posibilidad del diagnóstico por neuroimagen contribuyen a este incremento. Continua siendo un reto para el neonatólogo y el neuropediatra evitar su presentación y minimizar los efectos de la toxicidad por bilirrubina en período neonatal. Abstract: Introduction: “Kernicterus” is a term currently used to describe bilirrubin induced brain injury in the neuro-pathological studies. This is a confusing term and nowadays we prefer bilirrubin encephalopathy or bilirrubin induced neurological dysfunction. The clinical signs vary and it is clearly decreasing in prevalence in developed countries. Material and methods: We review a series of 7 patients with bilirrubin encephalopathy and variable neurological manifestations, who were seen in the Neuropaediatric Department in the last 10 years. Only one patient died in the neonatal period with hyperbilirubinaemia, sepsis and multi-organ failure. Results: Diverse aetiological factors were related to hyperbilirubinaemia. All patients had clinical symptoms due to hyperbilirubinaemia. Neuroimaging during the neonatal period showed involvement of the nucleus pallidus, with hyperintensity in T1 in the brain MR scan as the most consistent finding. All the patients who survived developed neurological signs and we try to correlate them with biochemical, clinical, neuroimaging and neurophysiological parameters. Conclusions: An increase in the number of patients with bilirrubin encephalopathy has been observed over the last few years, and we attempt to find out the causes. The increased survival of the low birth weight newborns, the increase in the immigration population and the use of diagnostic neuroimaging contribute to this increase. It is a great challenge for the neonatologist and for neuropaediatricians to prevent its occurrence and to minimise the effects of bilirrubin encephalopathy. Palabras clave: Neonato, Bilirrubina, Kernicterus, Disfunción neurológica, Núcleo pálido, Neuroimagen, Keywords: Newborn, Bilirrubin, Kernicterus, Neurological dysfunction, Nucleus pallidus, Neuroimaging

Introduction: “Kernicterus” is a term currently used to describe bilirubin induced brain injury in the neuro-pathological studies. This is a confusing term and nowadays we prefer bilirubin encephalopathy or bilirubin induced neurological dysfunction. The clinical signs vary and it is clearly decreasing in prevalence in developed countries. Materials and methods: We review a series of 7 patients with bilirubin encephalopathy and variable neurological manifestations, who were seen in the Neuropaediatric Department in the last 10 years. Only one patient died in the neonatal period with hyperbilirubinaemia, sepsis and multi-organ failure. Results: Diverse aetiological factors were related to hyperbilirubinaemia. All patients had clinical symptoms due to hyperbilirubinaemia. Neuroimaging during the neonatal period showed involvement of the nucleus pallidus, with hyperintensity in T1 in the brain MR scan as the most consistent finding. All the patients who survived developed neurological signs and we try to correlate them with biochemical, clinical, neuroimaging and neurophysiological parameters. Conclusions: An increase in the number of patients with bilirubin encephalopathy has been observed over the last few years, and we attempt to find out the causes. The increased survival of the low birth weight newborns, the increase in the immigration population and the use of diagnostic neuroimaging contribute to this increase. It is a great challenge for the neonatologist and for neuropaediatricians to prevent its occurrence and to minimise the effects of bilirubin encephalopathy. Resumen: El término: “kernicterus” se aplicó inicialmente a la tinción amarilla de los ganglios basales en estudios necrópsicos, pero es un término impreciso y se habla más de encefalopatía por bilirrubina o de disfunción neurológica inducida por la bilirrubina. Clínicamente la toxicidad por hiperbilirrubinemia puede ser muy variable y en países desarrollados tiende a desaparecer. Material y métodos: Revisamos una serie de 7 pacientes con encefalopatía por bilirrubina y diferentes grados de compromiso neurológico, atendidos en los últimos 10 años en el Servicio. Solo falleció un paciente en período neonatal con hiperbilirrubinemia, sepsis y fallo multiorgánico. Resultados: Las causas etiológicas de la hiperbilirrubinemia fueron muy variadas. Los 7 pacientes presentaron ictericia, clínica neonatal, la neuroimagen ya permitió demostrar las lesiones en núcleo pálido con hiperintensidad de T1. Todos los pacientes presentaron manifestaciones clínicas en período neonatal, y secuelas neurológicas más o menos graves en los 6 supervivientes que se intentan correlacionar con los demás parámetros bioquímicos, clínicos, de neuroimagen y neurofisiológicos. Conclusiones: Hemosconstatadounincrementodelasobservacionesdedisfunciónneurológica inducida por la bilirrubina y nos planteamos conocer las causas de esta situación. La mayor supervivencia de los grandes prematuros, el aumento de la población inmigrante y la posibilidad del diagnóstico por neuroimagen contribuyen a este incremento. Continua siendo un reto para el neonatólogo y el neuropediatra evitar su presentación y minimizar los efectos de la toxicidad por bilirrubina en período neonatal. Keywords: Newborn, Bilirrubin, Kernicterus, Neurological dysfunction, Nucleus pallidus, Neuroimaging, Palabras clave: Neonato, Bilirrubina, Kernicterus, Disfunción neurológica, Núcleo pálido, Neuroimagen

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling., (Copyright © 2010 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Introduction: The prevalence of obesity in industrialized countries is increasing and is closely related to essential hypertension (EHT) in adolescents., Objective: To analyze the prevalence of obesity and its association with other known cardiovascular risk factors in a sample of children and young adults with at least one parent with EHT., Methods: The EHT group consisted 51 children and young adults (28 males [aged 5.4-25.6 years]) with at least one parent with EHT. The control group comprised 73 healthy normotensive children and young adults (43 males [aged 7.2-25.2 years]) who completed the follow-up visits of the RICARDIN study. Blood pressure (BP) was measured with a standardized technique using a mercury sphygmomanometer. A 12-hour fasting blood sample was taken for lipid profile and high sensitivity C-reactive protein (CRP) determinations. Financial support: FIS 03/0350, ESV Foundation Grant, 2003., Results: The prevalence of obesity was five times higher in the EHT group than in controls (19.6% vs. 4.1%, p = 0.007). In this group, obese subjects showed higher systolic BP (122.0 vs. 110.4 mmHg p = 0.004) and lower high-density lipoprotein cholesterol (HDL-C) levels (47.6 vs. 58.0 mg/dl, p < 0.05). After adjustment for age and systolic BP, obese subjects in the EHT group showed significantly higher CRP values than non-obese subjects in this group (p = 0.024)., Conclusions: The prevalence of obesity is higher in the offspring of parents with EHT than in non HT-prone subjects. Clustering of other additional risk factors indicates the need for high-risk preventive interventions in this group of children and young adults.