A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3' - Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay.

Microcephaly is defined by a head circumference that is at least two standard deviations below the mean for age and sex of the general population in a specific race. Primary microcephaly may occur as an isolated inborn error, which may damage to the central nervous system or as part of the congenital abnormalities associated with genetic syndrome, affecting multiple organ systems. One of the syndromic forms consists of microcephaly, seizures, and developmental delay caused by biallelic mutations in the gene that encode polynucleotide kinase 3' - phosphatase protein (PNKP). In this article, we reported a newborn male who presented with microcephaly, severe developmental delay, and early-onset refractories seizures, caused by a novel homozygous mutation of the PNKP gene.

Meningitis víricas neonatales. Importancia de la reacción en cadena de la polimerasa en su diagnóstico / Neonatal viral meningitis. The importance of the polymerase chain reaction in their diagnosis

Introducción. Las meningitis víricas representan una entidad relativamente frecuente en los recién nacidos, aunque en muchos casos infradiagnosticadas, ante la ausencia de pleocitosis en el líquido cefalorraquídeo (LCR). Objetivos. Describir las características clínicas y los hallazgos de laboratorio de neonatos con meningitis víricas y destacar la importancia de la reacción en cadena de la polimerasa (PCR) en el LCR para diagnosticar esta patología. Pacientes y métodos. Revisión retrospectiva de historias clínicas de neonatos ingresados en la sección de neonatología diagnosticados de meningitis vírica entre mayo de 2014 y mayo de 2017. Resultados. Se registraron 17 casos de meningitis vírica (15 causadas por enterovirus y dos por parecho virus), que constituyenel 14,8% de los neonatos ingresados por síndrome febril. Todos manifestaron fiebre (100%), y otros síntomas destacados fueron irritabilidad (76%) y rechazo de la ingesta (65%). El 88% cursó con celularidad normal en el LCR y sin hiperproteinorraquia, y el 100%, sin hipoglucorraquia, por lo que previamente muchos de estos niños quedaban con el diagnóstico de síndrome febril sin foco. Estos datos resaltan la necesidad de realizar la PCR en el LCR a neonatos con fiebre sin foco, debido a la normalidad de las pruebas complementarias en la mayoría de los casos. El 64,7% de los niños recibió seguimiento neurológico posterior en consulta de neurología, sin objetivarse secuelas neurológicas, salvo en uno de ellos. Conclusiones. La PCR múltiple en el LCR se ha convertido en una técnica diagnóstica imprescindible en el recién nacido con sospecha de infección, y sustituye al cultivo viral como prueba de referencia por su mayor rapidez y sensibilidad

Introduction. The different types of viral meningitis constitute a condition that is relatively frequent in newborn infants, although in many cases they are underdiagnosed due to the absence of pleocytosis in the cerebrospinal fluid (CSF). Aims. To describe the clinical features and laboratory findings of newborn infants with viral meningitis and to highlight the importance of the polymerase chain reaction (PCR) in the CSF to diagnose this condition. Patients and methods. A retrospective review of the medical records of newborn infants hospitalised in the neonatology section who had been diagnosed with viral meningitis between May 2014 and May 2017. Results. Altogether 17 cases of viral meningitis were registered (15 caused by enterovirus and two due to parechovirus), which accounts for 14.8% of all newborns hospitalised owing to febrile symptoms. All of them had fever (100%), and other notable symptoms were irritability (76%) and rejection of feeding (65%). Normal cellularity was found in the CSF without high protein levels in 88% of them, and without hypoglycorrhachia in all of them (100%), which meant that many of these children had previously been left with a diagnosis of a febrile syndrome with no focus. These data stress the need to perform the PCR in the CSF of newborn infants who have a fever without a focus, due to the normal status of the results of the complementary tests in most cases. Subsequent neurological follow-up was performed in 64.7% of the children in the neurology service, without any neurological sequelae being found, except in one case. Conclusions. Multiple PCR in the CSF has become an essential diagnostic technique in cases of newborn infants with a suspected infection, and replaces viral culture as the reference test due its being quicker and more sensitive

Neonatal detection of 5p13.2 duplication and delineation of the phenotype.

A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had left renal agenesis, dysgenesis of corpus callosum with psychomotor delay. After olignucleotide array comparative genomic hybridization (array-CGH) analysis, we detected a 900 kb duplication in cytoband 5p13.2, apperently a first clinical description.

Trombosis venosa profunda secundaria a canalización de vena femoral en niños con cetoacidosis diabética / Deep venous thrombosis secondary to femoral vein catheterization in children with diabetic ketoacidosis

Los niños ingresados por cetoacidosis diabética (CAD) suelen manejarse con vías periféricas; sin embargo, algunos pacientes necesitan un catéter central para el manejo inicial. Es sabido que la CAD implica un estado de hipercoagulabilidad que supone un aumento del riesgo de trombosis asociada a catéter. Se presentan 2 casos de trombosis femoral asociada a canalización de vena femoral coincidiendo con cetoacidosis diabética en lactantes de 18 y 27 meses. En ambos la trombosis fue precoz (antes de 72 h tras la inserción) y se desarrolló a pesar de la rápida retirada de la vía central (menor de 48 h). Debido al alto riesgo de trombosis asociada a catéter en los pacientes diabéticos más pequeños (menores de 3 años), debe considerarse individualmente la necesidad de catéter central y evitarlo siempre que sea posible. En caso de canalización, debe valorarse la profilaxis con heparina de bajo peso molecular (AU)

Children admitted to hospital for diabetic ketoacidosis are frequently managed with peripheral venous lines. However, due to the severity of their illness, some patients need central lines for initial treatment. Diabetic ketoacidosis is known to produce hypercoagulability, increasing the risk of catheter-related deep venous thrombosis. We present two patients with diabetic ketoacidosis, aged 18 and 27 months, who developed deep venous thrombosis after placement of femoral central venous catheters. In both patients, the thrombosis occurred within 72 hours of catheter insertion, despite rapid removal of the central lines (less than 48 hours). Due to the high risk of catheter-related thrombosis in patients with diabetic ketoacidosis (especially in children aged less than 3 years old), the need for central venous lines should be evaluated in each patient and avoided as far as possible. Low molecular weight heparin prophylaxis should be considered if a venous central catheter is required (AU)