[Neonatal viral meningitis. The importance of the polymerase chain reaction in their diagnosis]. / Meningitis viricas neonatales. Importancia de la reaccion en cadena de la polimerasa en su diagnostico.

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.

TITLE: Meningitis viricas neonatales. Importancia de la reaccion en cadena de la polimerasa en su diagnostico.Introduccion. Las meningitis viricas representan una entidad relativamente frecuente en los recien nacidos, aunque en muchos casos infradiagnosticadas, ante la ausencia de pleocitosis en el liquido cefalorraquideo (LCR). Objetivos. Describir las caracteristicas clinicas y los hallazgos de laboratorio de neonatos con meningitis viricas y destacar la importancia de la reaccion en cadena de la polimerasa (PCR) en el LCR para diagnosticar esta patologia. Pacientes y metodos. Revision retrospectiva de historias clinicas de neonatos ingresados en la seccion de neonatologia diagnosticados de meningitis virica entre mayo de 2014 y mayo de 2017. Resultados. Se registraron 17 casos de meningitis virica (15 causadas por enterovirus y dos por parechovirus), que constituyen el 14,8% de los neonatos ingresados por sindrome febril. Todos manifestaron fiebre (100%), y otros sintomas destacados fueron irritabilidad (76%) y rechazo de la ingesta (65%). El 88% curso 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 diagnostico de sindrome 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 mayoria de los casos. El 64,7% de los niños recibio seguimiento neurologico posterior en consulta de neurologia, sin objetivarse secuelas neurologicas, salvo en uno de ellos. Conclusiones. La PCR multiple en el LCR se ha convertido en una tecnica diagnostica imprescindible en el recien nacido con sospecha de infeccion y sustituye al cultivo viral como prueba de referencia por su mayor rapidez y sensibilidad.

Midriasis congénita como signo inicial de displasia septo-óptica / Congenital mydriasis as an initial sign of septo-optic dysplasia

La displasia septo-óptica (DSO)[MIM182230] es una entidad heterogénea poco frecuente, caracterizada por la tríada clásica: hipoplasia del nervio óptico, anomalías de las hormonas hipofisarias y defectos de la línea media cerebral (incluyendo agenesia del septumpellucidumy/o del cuerpo calloso; también se han descrito malformaciones corticales asociadas, citado como síndrome DSO plus). Referimos el primer caso clínico conocido, en el que el signo de diagnóstico inicial de DSO fue una midriasis bilateral, como manifestación de hipoplasia de ambos nervios ópticos, hipoplasia hipofisaria y disgenesia cerebral con alteración de migración neuronal. Discutimos el diagnóstico diferencial de la midriasis congénita (AU)

Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classic triad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of the brain midline (including agenesis of the septum pellucidum and/or the corpus callosum; it has also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateral mydriasis as a manifestation of hypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder. We discuss the differential diagnosis of congenital mydriasis (AU)

[Congenital mydriasis as an initial sign of septo-optic dysplasia]. / Midriasis congénita como signo inicial de displasia septo-óptica.

Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateralmydriasis as a manifestation ofhypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder.We discuss thedifferential diagnosis of congenital mydriasis.

Ictiosis ligada al cromosoma X asociada a epilepsia, hiperactividad, autismo y retraso mental, por microdeleción Xp22.31 / X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion

La ictiosis ligada al cromosoma X está causada por mutación o deleción del gen STS asociado a la deficiencia dela enzima sulfatasa esteroidea, localizada en la parte distal del brazo corto del cromosoma X (Xp22.3-pter), cerca de la región pseudoautosómica. Dependiendo de su extensión, puede presentarse como una entidad aislada o en combinación con un síndrome de genes contiguos, asociándose a otras enfermedades monogénicas, así como a otros trastornos mentales.Se revisa la bibliografía, destacando la importancia de la región Xp22.3-pter y la mayor incidencia de trastornos neurológicos en varones (trastorno por déficit de atención/hiperactividad, autismo y retraso mental ligado a X). Se discuteel papel e implicación de estos genes en la enfermedad y se propone la posible contribución del gen PNPLA4, originalmente descrito como GS2 y codificante de la fosfolipasa A2 independiente del calcio-eta, involucrada en el metabolismolipoproteico, como una de las causas de autismo. Se ha objetivado mejoría tras el tratamiento con citicolina, a través del papel que este nootropo desempeña en la biosíntesis de fosfolípidos estructurales involucrados en la formación y reparación de la membrana neuronal (AU)

X-chromosome-linked ichthyosis is caused by mutation or deletion of the STS gene associated with a deficiency of the enzyme steroid sulphatase, located in the distal part of the short arm of the X chromosome (Xp22.3-pter), close tothe pseudo-autosomal region. Depending on its size, it can present as an isolated entity or combined with a syndrome caused by neighbouring genes, thus associating itself with other monogenic diseases as well as other mental disorders.The most relevant findings from the literature review are the importance of the Xp22.3-pter region and the higher incidence of neurological disorders among males (attention deficit hyperactivity disorder, autism and X-linked mental retardation). The role and implication of these genes in the disease are discussed and the authors suggest a possiblecontribution of the gene PNPLA4, which was originally described as GS2 and codes for calcium-independent phospholipase A2 beta, involved in lipoprotein metabolism, as one of the causes of autism. Improvements have been observed followingtreatment with citicoline, thanks to the role this nootropic plays in the biosynthesis of structural phospholipids involved inthe formation and repair of the neuronal membrane (AU)

[Functional constipation: prospective study and treatment response]. / Estreñimiento funcional: estudio prospectivo y respuesta al tratamiento.

OBJECTIVE: To assess the prevalence of functional constipation (FC) with and without encopresis, the factors involved in its onset, and treatment response. PATIENTS AND METHODS: A prospective study of 62 children was performed using a standard questionnaire (onset-age, regular toilet use, encopresis, complications, dietary habits and environmental and psychological factors) and physical and anthropometric assessment. FC was defined as a stool frequency of less than 3 bowel movements/week, with passage of large or scybalous stools, with or without 2 or more soiling episodes per week, without underlying disease. Treatment included demystification, behavioral modification and drugs (mineral oil and senna). Each child was periodically re-evaluated, and treatment was considered successful when the defecation rate was 3 or more bowel movements/week, discomfort was absent, and fecal soiling frequency was 2 or fewer episodes/ month. RESULTS AND CONCLUSIONS: FC accounted for 13 % of all first consultations (60 % boys, 40 % girls; mean age at diagnosis 6.1 years). The most frequent manifestations were painful defecation (60 %), rectorrhagia (42 %), obstructive episodes (34 %) and anal fissure or hemorrhoids (17 %); 19 patients (31 %) had encopresis. Nutritional assessment revealed that 84 % of the patients was well nourished and 16 % was overweight. Fiber intake was deficient in more than 60 %. Sixteen (26 %) patients underwent successful relief of impaction with senna (20-30 mg/dose) combined with mineral oil. Maintenance treatment included mineral oil (15-30 ml/day) and senna at the minimum effective dose (5-15 mg/day). Satisfactory results were achieved 1 month later in 32 % of the children, 3-6 months later in 71 %, and 6-12 months later in 85 %; successful response was closely related to regular toilet habits, dietary modification and a shift in the family's attitude.

Estreñimiento funcional: estudio prospectivo y respuesta al tratamiento / Functional constipation: prospective study and treatment response

Objetivo: Analizar la prevalencia del estreñimiento funcional asociado o no a encopresis, los factores implicados en su desarrollo y la respuesta al tratamiento. Pacientes y métodos: Estudio prospectivo de 62 niños en el que se incluyó cuestionario estándar (edad de comienzo, hábito higiénico, encopresis, complicaciones, encuesta dietética y factores psicológico-ambientales) y exploraciones clínica y antropométrica. Se definió estreñimiento funcional a la frecuencia de defecación inferior a 3 veces/semana con heces voluminosas o escíbalos, acompañado o no de 2 manchados/semana, sin causa orgánica. El tratamiento incluyó desmitificación, corrección de hábitos y fármacos (lubricantes y senósidos). Se reevaluaron periódicamente considerándose respuesta positiva si la defecación fue igual a 3 veces/semana, sin molestias y menos de 2 manchados/mes. Resultados y conclusiones: El estreñimiento funcional supuso el 13 % de las primeras consultas, siendo el 60 % niños y el 40 % niñas, con edad promedio de 6,1 años. Las principales manifestaciones fueron dolor a la defecación (60 %), rectorragia (42 %), episodios obstructivos (32 %) y fisuras y/o hemorroides (18 %); en 19 casos (31 %) se asoció encopresis. El 84 % estaba normonutrido y el 16 % tenían sobrepeso, siendo la alimentación deficitaria en fibra en más del 60 %. Requirieron desimpactación 16 niños con la combinación de senósidos (20-30 mg/dosis) y aceite de parafina, con total eficacia. El tratamiento de mantenimiento incluyó lubricantes (15-30 ml/día) y senósidos en la dosis mínima eficaz (media: 5-15 mg/día). La respuesta al mes fue positiva en el 32 %, a los 3-6 meses en el 71 % y a los 6-12 meses en el 85 % y se relacionó de forma estrecha con la modificación de los hábitos higiénico-dietéticos y el cambio en la actitud familiar

Objective To assess the prevalence of functional constipation (FC) with and without encopresis, the factors involved in its onset, and treatment response. Patients and methods A prospective study of 62 children was performed using a standard questionnaire (onset-age, regular toilet use, encopresis, complications, dietary habits and environmental and psychological factors) and physical and anthropometric assessment. FC was defined as a stool frequency of less than 3 bowel movements/week, with passage of large or scybalous stools, with or without 2 or more soiling episodes per week, without underlying disease. Treatment included demystification, behavioral modification and drugs (mineral oil and senna). Each child was periodically re-evaluated, and treatment was considered successful when the defecation rate was 3 or more bowel movements/week, discomfort was absent, and fecal soiling frequency was 2 or fewer episodes/ month. Results and conclusions FC accounted for 13 % of all first consultations (60 % boys, 40 % girls; mean age at diagnosis 6.1 years). The most frequent manifestations were painful defecation (60 %), rectorrhagia (42 %), obstructive episodes (34 %) and anal fissure or hemorrhoids (17 %); 19 patients (31 %) had encopresis. Nutritional assessment revealed that 84 % of the patients was well nourished and 16 % was overweight. Fiber intake was deficient in more than 60 %. Sixteen (26 %) patients underwent successful relief of impaction with senna (20-30 mg/dose) combined with mineral oil. Maintenance treatment included mineral oil (15-30 ml/day) and senna at the minimum effective dose (5-15 mg/day). Satisfactory results were achieved 1 month later in 32 % of the children, 3-6 months later in 71 %, and 6-12 months later in 85 %; successful response was closely related to regular toilet habits, dietary modification and a shift in the family's attitude