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.

Microangiopatía trombótica: manifestación renal en la enfermedad por SARS-CoV-2 (COVID-19) / Thrombotic microangiopathy: A renal manifestation in SARS-CoV-2 infection (COVID-19 disease)

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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

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.

We report the case of a newborn with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement in which, using a customized targeted next-generation sequencing assay for 64 myopathy-associated genes, we detected a novel homozygous truncating mutation, c.38661_38665del, in exon 197 of the TTN gene that is expressed only in the fetal skeletal isoform. Its pathogenicity is supported by evidence of maternal isodisomy for chromosome 2. Muscle pathology showed fibers with core-like areas devoid of oxidative staining and cytoplasmic bodies. Electron microscopy showed the replacement of the sarcomeric structure with filamentous material. Identification of this mutation expands the phenotypic spectrum of the TTN gene and shows for the first time that a mutation not found in adult TTN isoforms is involved in the development of a neuromuscular disorder. TTN mutations should be considered in all severe congenital myopathies with arthrogryposis without cardiac involvement.

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

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 to the 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 possible contribution 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 following treatment with citicoline, thanks to the role this nootropic plays in the biosynthesis of structural phospholipids involved in the formation and repair of the neuronal membrane.

Trisomia X, asociada a dismorfismo fenotípico / Trisomy X, related to dysmorphic phenotype

El síndrome triple XXX es una anomalía cromosómica relativamente frecuente, con una incidencia de 1 por cada 1.000 ó 1.200 recién nacidas vivas, en relación generalmente a edad materna elevada. Sin embargo, no suele sospecharse al nacimiento al no presentar un fenotipo característico y, aunque el dismorfismo puede ser muy variable, lo habitual es que no presenten ninguna manifestación clínica. Es por esto que el diagnóstico, con frecuencia, se establece tardíamente tras la presentación de insuficiencia ovárica primaria. Sólo en pocas ocasiones se describe en la literatura dismorfismo facial y otras malformaciones asociadas, sobre todo a nivel de aparato genitourinario, como genitales ambiguos, disgenesia ovárica, extrofia de cloaca, agenesia renal y con menor frecuencia cardiopatías u otras. El pronóstico es variable, dependiendo de la severidad de las anomalías presentadas, aunque hay casos descritos con retraso mental. Lo más frecuente es que tengan una inteligencia normal o ligeramente inferior a la normal. Presentamos el caso de una niña diagnosticada en periodo neonatal por un síndrome polimalformativo, en la cual se han encontrado anomalías poco habituales en este síndrome, como un dismorfismo facial peculiar, la implantación anómala del pulgar, la hipoacusia bilateral y una cardiopatía congénita. También presenta, como hallazgos más frecuentes en este síndrome, retraso psicomotor y del lenguaje. Destacamos la importancia del diagnóstico precoz para la instauración temprana del tratamiento(AU)

The triple X syndrome is a relatively common chromosome abnormality, with an incident of 1 per 1,000 or 1,200 live new born infants, generally related to advanced maternal age. However, it is not usually suspected at birth due to the lack of a characteristic phenotype and, although dysmorphism may be variable, there is usually no clinical manifestation. This is why diagnosis is often delayed until after the presentation of primary ovary failure. Facial dysmorphism and other related malformations, especially of genitourinary system, such as ambiguous genitalia, ovarian dysgenesis, cloacal exstrophy, renal agenesis and less frequently heart diseases or other diseases, have been rarely reported in the literature. The prognosis is variable, depending on the severity of the abnormalities, although cases of mental retardation have been described. Most patients have normal or slightly below normal intelligence. We report a case of a girl diagnosed in the neonatal period with polymalformation syndrome, which included rare abnormalities, such as a peculiar facial dysmorphism, abnormal implantation of the thumb, bilateral hearing loss and congenital heart disease. The more common findings in this syndrome were also present such as psychomotor and language retardation. We emphasise the importance of early diagnosis for prompt installation of treatment(AU)

Urticaria pigmentosa / Urticaria pigmentosa

La proteína de la leche de vaca es el primer alimento no homólogo introducido en la dieta durante la infancia. Es una de las causas mas frecuentes de alergia alimentaria en niños y está implicada en reacciones de hipersensibilidad como exantemas y urticaria. Se deben considerar en el diagnóstico diferencial otras causas menos frecuentes de lesiones cutáneas en niños. La mastocitosis en una rara enfermedad, caracterizada por el aumento de mastocitos en los tejidos, que puede producir alteraciones tanto sistémicas como cutáneas. En pacientes pediátricos la forma cutánea más frecuente es la urticaria pigmentosa, donde el acúmulo anormal de mastocitos se limita a la piel y los pacientes están asintomáticos o presentan mínima afectación

Cow’s milk is usually the fi rst foreign protein introduced into an infant’s diet. It is one of the most common food allergiesin young children and has been implicated in several hypersensitivity reactions such as rashes and urticaria. Other less frequent causes of rashes in children should also be considered in the differential diagnosis. Mastocytosis is a group of rare disorders, both cutaneous and systemic, that are characterized by an increased numbers of mast cells in the tissues and organs. In paediatric patients, cutaneous involvement is most prevalent in the form of urticaria pigmentosa, abnormal mast cell accumulation is limited to the skin which is typically asymptomatic or only slightly affected