A mild case of hemolytic disease of the fetus and newborn due to anti-Sc2.

We report the case of a newborn girl with jaundice due to increased indirect bilirubin with a positive direct antiglobulin test (DAT) and compensated hemolysis. The result of the newborn's DAT was discrepant with the negative result of the mother's indirect antiglobulin test. The multiparous mother had a previous history of fetal hydrops miscarriage, with no known cause, and no record of the cause was found at the hospital where she was treated. After referring samples from the mother and newborn to a reference laboratory, the rare alloanti-Sc2 was identified in the mother's plasma and in the newborn's eluate. HEA BeadChip genotyping of the newborn's DNA sample predicted the SC:1,2 phenotype.We report the case of a newborn girl with jaundice due to increased indirect bilirubin with a positive direct antiglobulin test (DAT) and compensated hemolysis. The result of the newborn's DAT was discrepant with the negative result of the mother's indirect antiglobulin test. The multiparous mother had a previous history of fetal hydrops miscarriage, with no known cause, and no record of the cause was found at the hospital where she was treated. After referring samples from the mother and newborn to a reference laboratory, the rare alloanti-Sc2 was identified in the mother's plasma and in the newborn's eluate. HEA BeadChip genotyping of the newborn's DNA sample predicted the SC:1,2 phenotype.

Pulmonary imaging in coronavirus disease 2019 (COVID-19): a series of 140 Latin American children.

BACKGROUND: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which resulted in the worldwide coronavirus disease 2019 (COVID-19) pandemic of 2020, has particularly affected Latin America. OBJECTIVE: The purpose of the study was to analyze the imaging findings of pulmonary COVID-19 in a large pediatric series. MATERIALS AND METHODS: Children with SARS-CoV-2 infection confirmed by either quantitative reverse transcription-polymerase chain reaction from nasopharyngeal swabs or presence of circulating immunoglobulin M (IgM) antibodies and who underwent chest radiograph or CT or both were included in this retrospective multicenter study. Three pediatric radiologists independently reviewed radiographs and CTs to identify the presence, localization, distribution and extension of pulmonary lesions. RESULTS: We included 140 children (71 female; median age 6.3 years, interquartile range 1.6-12.1 years) in the study. Peribronchial thickening (93%), ground-glass opacities (79%) and vascular engorgement (63%) were the most frequent findings on 131 radiographs. Ground-glass opacities (91%), vascular engorgement (84%) and peribronchial thickening (72%) were the most frequent findings on 32 CTs. Peribronchial thickening (100%), ground-glass opacities (83%) and pulmonary vascular engorgement (79%) were common radiograph findings in asymptomatic children (n=25). Ground-glass opacity and consolidation were significantly higher in children who needed intensive care admission or died (92% and 48%), in contrast with children with a favorable outcome (71% and 24%, respectively; P<0.05). CONCLUSION: Asymptomatic children and those with mild symptoms of COVID-19 showed mainly peribronchial thickening, ground-glass opacities and pulmonary vascular engorgement on radiographs. Ground-glass opacity and consolidation were more common in children who required intensive care admission or died.

Hemitórax hiperlúcido unilateral: diagnóstico por imágenes / Unilateral hyperlucent hemithorax in children

Different causes leading to an hyperlucent hemithorax in radiographs are revised, complementing the study with computed tomography for further precision. Pathological characteristics and their images are analyzed.

Se revisan las diferentes causas que pueden determinar un torax hiperlúcido unilateral en estudio radiológico simple de torax, complementando el estudio con tomografía computarizada para una mejor precisión. Se analizan sus características patológicas y su representación en imágenes.

[Complex regional pain syndrome and myoclonus: an uncommon combination]. / Distrofia simpático-refleja y mioclonías: una asociación infrecuente.

Complex regional pain syndrome (CRPS) is quite uncommon in paediatric patients. There is no identified organic aetiology. CRPS has a very significant psychosomatic component; therefore it is necessary to take a multidisciplinary approach to its treatment, which should include psychiatric assessment. CRPS is very difficult to diagnose, and can take months to control its symptoms. The association with myoclonus is rare, and since myoclonus is the clinical manifestation of a vast spectrum of different neurological disorders, some of which are degenerative, it is important to make a diagnosis as quickly as possible. We present the case of an adolescent male with an atypical presentation of CRPS. CRPS was located in the thorax, which is very unusual and was associated with myoclonus and dystonias. This made the diagnosis harder and widened the aetiological spectrum.

Espondilodiscitis causada por Kingella kingae en pediatría: reporte de un caso / Espondilodiskitis caused by Kingella kingae in children: a case report

During the last years, spondilodiskitis due to Kingella kingae has been a new target of interest, since it is the second agent that causes non tuberculous espondilodiskitis in children, after Staphylococcus aureus. Its clinical presentation is very inespecific, sometimes with fever, abdominal or lumbar disconfort, nocturnal pain, altered walking and sedestation. Images, culture methods and PCR (polymerase chain reaction) can be helpful for diagnosis, although in an important percent of the cases, etiology cannot be determined. Although there are no established guidelines for treatment, before the suspicion, empiric antibiotic treatment should be started for good prognosis. We describe a case of a 3 year old boy, who had this disease and then a review about spondilodiskitis in childhood and microbiological aspects of Kingella kingae.

La espondilodiscitis por Kingella kingae ha sido blanco de mayor interés en los últimos años, dado que constituye el segundo agente etiológico, luego de Staphylococcus aureus en espondilodiscitis no tuberculosa en niños. Clínicamente presenta sintomatología inespecífica, a veces acompañada de fiebre y de molestias abdominales o lumbares, con dolor de predominio nocturno y con alteraciones en la marcha y en la sedestación. El diagnóstico se puede ayudar con imágenes y métodos de cultivo o RPC (reacción polimerasa en cadena), aunque en un gran porcentaje de los casos no se logra determinar la etiología. Sin embargo, pese a que no exista un protocolo establecido para el tratamiento, ante la sospecha se debe iniciar tratamiento empírico, con buen pronóstico. Describimos un caso de un paciente de tres años que cursó con esta patología y posteriormente se expone una revisión sobre espondilodiscitis en la infancia y los aspectos microbiológicos de K. kingae.

The burden of mental disorders in primary care.

OBJECTIVES: To describe and compare the prevalence of mental disorders across primary care populations, and estimate their impact on quality of life. METHODS: Cross-sectional multilevel analysis of a systematic sample of 2539 attendees to eight primary care centres in different regions of Spain, assessed with the WHO Composite International Diagnostic Interview (CIDI 1.1), the Short Form Health Survey (SF-36) quality of life questionnaire and the SF-6D utility index. RESULTS: The 12-month prevalence of any mental disorder was 23% (95% confidence interval: 21-24%), 10% had mood, 9% anxiety, 5% organic, 4% somatoform, and 1% alcohol use disorders, with a significant between-centre variability (P<0.001). People with mental disorders had one standard deviation lower mental quality of life than the general population. We estimated that 1831 quality-adjusted life-years (QALYs) are lost annually per 100,000 patients due to mental disorders, without considering mortality. Mood disorders have the worst impact with an annual loss of 1124 QALYs per 100,000 patients, excluding mortality (95% confidence interval: 912-1351). CONCLUSIONS: Prevalence rates were similar to those obtained in international studies using the same diagnostic instrument and, given the significant between-centre variability found, it is recommended that mental health statistics be considered at small area level. Mental disorders, and especially mood disorders, are associated with very poor quality of life and higher scores on disability indexes than other common chronic conditions.

Ultrasonografía Doppler-color en el diagnóstico de las anomalías vasculares de las partes blandas superficiales en pediatría / Color Doppler ultrasonography in the diagnosis of vascular anomalies of the superficial soft tissue in children

Las anomalías vasculares de las partes blandas superficiales son frecuentes en el niño y se han clasificado en hemangiomas y malformaciones vasculares, según sus manifestaciones clínicas y hallazgos histológicos. La mayoría corresponde a hemangiomas, se presenta en el recién nacido, desaparece espontáneamente con el tiempo y sólo algunos de ellos requerirán de evaluación médica. Es importante especificar el tipo de lesión vascular para definir el tratamiento, lo que en la mayor parte de los casos es posible con los hallazgos clínicos. Sin embargo, a veces es necesario recurrir a estudios de imágenes para precisar el diagnóstico y los métodos más utilizados son la Ultrasonografía (US) Doppler-color; Resonancia magnética (RM) y Angiografía. La US Doppler-color es un método sencillo, inocuo, no invasivo, que permite diferenciar las lesiones superficiales de aquellas profundas y además permite evaluar la vascularización de la lesión y, de esta manera, lograr una adecuada aproximación diagnóstica. También permite seleccionar aquellos casos que requerirán de métodos más sofisticados, como RM o angiografía. El objetivo de esta revisión es mostrar la utilidad de la US Doppler en el estudio de las anomalías vasculares de las partes blandas superficiales en el niño.

Vascular anomalies of superficial soft tissues are frequent in children and have been classified in hemangiomas and vascular malformations, depending on clinical and histological findings. Most correspond to hemangiomas, present in the newborn period, which disappear spontaneously with time and only some may require an imaging evaluation. It is important to specify the type of vascular anomaly in order to define management, which in most cases is possible with just clinical findings. Nevertheless, some cases may require imaging studies to define diagnosis, and the most utilized methods are Doppler ultrasonography (US), magnetic resonance Imaging (MRI) and angiography. Doppler US is a non invasive, harmless and simple method which allows to differentiate between deep and superficial lesions. It also permits to evaluate vascularization and in this manner; achieve an adequate diagnosis and select those cases that will require more sophisticated methods like MRI or angiography. The main objective of this review is to show the role of Doppler US in the study of superficial soft tissue vascular anomalies in children.

[Coding in neuropediatrics based on the International Classification Diseases, 9th revision (ICD-9), 5th edition (2006)]. / Codificación en neurología pediátrica basada en la Clasificación Internacional de Enfermedades, 9.(a) revisión (CIE-9), 5.(a) edición (2006).

AIMS: To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensus basis, to 'reasons for medical consultation', 'diagnoses' and 'procedures' in child neurology. MATERIALS AND METHODS: The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned the most appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system's coding rules. Disorders were grouped by sections, and allocated to the various members of the working group (13 child neurologists from 10 hospitals in Madrid and environs). RESULTS: Available on the web www.neurologia.com/cie-9. ICD-9-CM codes were assigned to: 158 reasons for medical consultation; 886 diagnoses; 73 diagnostic procedures; and 53 therapeutic procedures. In every case, the most appropriate ICD-9 code was sought for the respective diagnosis. No codes were invented but the working group did take certain liberties with interpretation, which nevertheless showed respect for general ICD-9-CM philosophy and are described in full in the text. CONCLUSIONS: The creation of this ICD-9 adaptation will not only enhance diagnostic coding in child neurology departments, but will also provide them with a useful tool for setting up databases to enable information to be retrospectively analyzed and shared by the different health centers.

Hypothyroidism is associated with increased myostatin expression in rats.

Besides its key role in the regulation of muscle growth during development, myostatin also appears to be involved in muscle homeostasis in adults, and its expression is upregulated during muscle atrophy. Since muscle physiology is greatly influenced by thyroid status, and the myostatin promoter region contains several putative thyroid hormone response elements, in the present study we examined the possible role of thyroid hormones in the regulation of myostatin gene expression. Adult male rats were made either hypothyroid or hyperthyroid by means of administration of 0.1% amino- triazole (AMT) in drinking water for 4 weeks, or daily injections of Levo-T4 (L-T4) (100 microg/rat) for 3 weeks, respectively. At the end of the treatment period, both myostatin mRNA and protein content were increased in AMT-treated rats in relation to control rats. In contrast, no changes in myostatin mRNA levels were detected in L-T4-treated rats. The role of thyroid hormones in the regulation of myostatin expression was also investigated in C2C12 cells in vitro. Treatment of C2C12 cells with thyroid hormones stimulated their differentiation into multinucleated myotubes, but did not induce any change in myostatin mRNA abundance. In all, our findings demonstrate that myostatin expression is increased in hypothyroid rats, thus supporting a possible role for this factor in the pathogenesis of the muscle loss that may occur in hypothyroidism.

[Larsen syndrome: two reports of cases with spinal cord compromise]. / Síndrome de Larsen: a propósito de dos casos con afectación medular.

INTRODUCTION: Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. CASE REPORTS: Case 1: an 18-month-old female with congenital dislocation of knees and hips. The patient had a flat face, sunken root of nose, and carp mouth. Magnetic resonance imaging of the spine showed severe cervical kyphosis secondary to malformation and hypoplasia of the cervical vertebral bodies and important compression of the spinal cord. Clinically, there were also signs of upper motor neuron syndrome, which was especially prominent in the lower limbs. Case 2: a 14-year-old male with a characteristic face and dislocation of the head of the radius. The patient presented amyotrophy of the muscles in the right hand and clinical signs of lower motor neuron syndrome due to neuronal damage secondary to spinal malformations. CONCLUSIONS: Larsen syndrome is an infrequent osteochondrodysplasia. Alteration of the spine is common and may give rise to spinal cord compression with varying clinical repercussions which require surgical treatment in the early years of the patient's life.

Migraine symptoms related to the percutaneous closure of an ostium secundum atrial septal defect: report of four paediatric cases and review of the literature.

Several publications have recently suggested that atrial septal defect may be associated with the physiopathology of headache with migraine-type characteristics. We describe four previously asymptomatic paediatric patients with atrial septal defect who underwent percutaneous Amplatzer septal occluder device implantation and who subsequently developed symptoms compatible with migraine headache. The cases had normal echocardiograms after the intervention and a benign course with headache improvement after several weeks or months. There are paediatric patients with atrial septal defect who may dramatically develop migraine symptoms with or without aura following percutaneous correction of their defect. Large paediatric studies are needed to offer accurate prognoses for children and their families. The possibility of using clopidogrel to treat this type of headache is subject to debate.

Anomalías vasculares de partes blandas: imágenes diagnósticas / Vascular anomalies of soft tissues: diagnostic images

Vascular anomalies include different pathologies as hemangiomas and vascular malformations, however they usually are reported together and confusion is created. Mülliken and Glowacki proposed a classification posteriorly, modificated, adapted and actually in use. Unfortunately is not sufficiently known for our radiologist. Classification and imaging correlation of soft-tissue vascular anomalies are revised, since a exact diagnosis is a great value for appropriate treatment and prognosis.

Las anomalías vasculares han sido tradicionalmente tratadas en conjunto aun cuando engloban patologías tan diferentes como hemangiomas y malformaciones vasculares. La clasificación dada a conocer por Mülliken y Glowacki, modificada posteriormente, no es suficientemente conocida ni usada en nuestro medio. Se revisa la clasificación actual y la correlación con imágenes de aquellas anomalías vasculares situadas en partes blandas, dada la importancia que tiene un correcto diagnóstico para la terapéutica y pronóstico de los pacientes con estas lesiones.

Nodulos parasitrrios cutáneos: estudio ultrasongrafico de tres casos poco freccuentes en la edad pedáátrica / Cutaneous parasitic nodules: ultrasonographic study of three infrequent cases in the pediatric age

The parasitic nodules are part of the cutaneous manifestations of the parasitic diseases, fundamentally affect children. We report the clinic history, study by images and parasitological results of three infrequent parasitic cases in the pediatric age, which were studied with images, specially ultrasound, and this contributed somehow to the diagnosis. The final parasitological diagnoses were dirofilaria, toxocara and myiasis. The epidemiology, clinical and dermatológica! manifestations are discussed of each one.

Los nodulos parasitarios forman parte de las manifestaciones cutáneas de las enfermedades parasitarias, las cuales afectan fundamentalmente a niños. Se da a conocer la historia clínica, el estudio por imágenes y los resultados histopatológicos y parasitarios de tres casos poco frecuentes en la edad pediátrica, los cuales fueron estudiados con ultrasonido que contribuyó de alguna manera al diagnóstico. Los parásitos encontrados fueron dirofilaria, toxocara y una larva de mosca. Se discute la epidemiología, manifestaciones clínicas y dermatológicas de cada una de estas parasitosis.

[Leukoencephalopathy with vanishing white matter: A case report]. / Leucoencefalopatía con sustancia blanca evanescente: a propósito de un caso.

INTRODUCTION: Leukoencephalopathy with vanishing white matter is an autosomal recessive hereditary disease that was first reported in 1997. Some time later the genetic anomalies responsible for the disease were identified, these being different mutations in any of the five genes that code for the five subunits of the translation initiation factor, eIF2B. Since then, the clinical spectrum of this condition has proved to be much broader and far more frequent than was initially believed. We report on a case of the classical clinical form, which is to our knowledge the first to be published in Spain to date. CASE REPORT: A 5-year-old female who presented gait instability that recently got worse following a mild traumatic head injury. The examination revealed overall cerebellar ataxia and generalised spasticity. Magnetic resonance imaging (MRI) showed diffuse and symmetrical involvement of the white matter of the brain with the presence of cavities in which the signal intensity and the proton spectrum were similar to those of cerebrospinal fluid. The genetic study revealed a mutation of the gene that codes for eIF2B-epsilon. CONCLUSIONS: A suggestive MRI scan, even in an atypical presentation, would be enough to rule out a mutation of the genes that code for eIF2B. This would make it possible to reach an early diagnosis of this disease, which is probably more prevalent than is currently thought. This would allow genetic counselling to be conducted and would help to establish a genotype-phenotype correlate that would also make it possible to offer an estimated prognosis.

Radiología de esófago, estómago y duodeno en el estudio del lactante con regurgitación y/o vómitos habituales / Upper gastrointestinal radiography study rol in the vomiting children evaluation

El papel de la radiografía de esófago, estómago y duodeno (RxEED) en el estudio del niño con vómitos o regurgitación habitual, suele ser confuso en nuestro medio y en especial, en lo que se refiere a la pesquisa y valoración del reflujo gastroesofágico (RGE). El RGE es una condición fisiológica en el lactante menor; la Academia Americana de Pediatría considera a la RxEED como un procedimiento útil para la pesquisa de anormalidades anatómicas, y reitera que en los lactantes regurgitadores o con vómitos, su evaluación con mediciones antropométricas más una historia clínica y un examen físico cuidadoso son suficientes para formular el diagnóstico e iniciar tratamiento. El examen de RxEED puede ser molesto para los niños e implica la exposición a radiación ionizante. En nuestro medio es un examen muchas veces innecesario y sus resultados no son adecuadamente interpretados, ya sea por desconocimiento o por la insólita situación propia de Chile e inédita en el resto del mundo: la de una errada interpretación de la normativa legal en cuanto a la extensión de la licencia maternal en “enfermedades graves del hijo menor de un año”. Además de estandarizar la técnica del examen, es necesario un consenso en cuanto a sus indicaciones e interpretación. Un estudio reciente afirma que el uso de la RxEED en el niño, ha sido desvirtuado, tanto desde el punto de vista médico como económico y social, ya que es solicitado sin causas médicas justificadas en la inmensa mayoría de los casos y su indicación muchas veces sólo sirve de pretexto para documentar una condición fisiológica –que en este caso se instrumentaliza como patológica– con el fin de conceder licencias de trabajo maternales. La normativa vigente debería ser modificada para extender el período de licencia maternal postnatal a todas las madres sin excepción o bien buscar otras herramientas que permitan reconocer los casos que realmente requieren una extensión de ella y de esta manera terminar con esta práctica técnica, económica y éticamente discutible.

Uso y abuso del estudio radiológico de esófago, estómago y duodeno en pacientes pediátricos: necesidad de una adecuada normativa y de una estandarización del exámen / Use and abuse of upper gastrointestinal radiography study in pediatric patients: need of an adequate normative and standardization

Introducción: El rol de la radiografía de esófago, estómago y duodeno (RxEED) en el estudio del niño con vómitos y en especial, en la pesquisa del reflujo gastroesofágico (RGE), en nuestro medio, es confuso. El RGE es una condición generalmente fisiológica que se manifiesta como regurgitación habitual en el lactante menor. La academia Americana de Pediatría considera la RxEED como un procedimiento útil para la evaluación de anormalidades anatómicas y reitera que en los lactantes con vómitos y regurgitación, la historia clínica y el examen físico son suficientes para formular diagnóstico, reconocer complicaciones e iniciar tratamiento. Los radiólogos estamos efectuando exámenes muchas veces innecesarios y molestos para los niños, cuyos resultados no son adecuadamente interpretados, ya sea por desconocimiento de los médicos solicitantes o por una errada normativa legal en cuanto a la extensión de licencia maternal. Se debe agregar que estamos haciendo uso inadecuado de radiación ionizante. Objetivos: Este trabajo persigue analizar la confusión sobre la utilidad e indicaciones de la RxEED en el estudio del niño con vómitos o regurgitación, la inadecuada indicación médica de este y la errada normativa vigente que obliga a los niños a ser sometidos a este estudio para extender una licencia postnatal de las madres. Se propone además, un intento para estandarizar la técnica de examen y establecer un consenso en cuanto a sus indicaciones e interpretación. Pacientes y Método: En forma prospectiva, se incluyó en este estudio a 190 niños, menores de 1 año, estudiados en forma consecutiva con RxEED en nuestro Hospital Clínico, desde el 1° de Abril hasta el 30 de Septiembre del 2004. En cada caso se consignó numerosos antecedentes, incluyendo la técnica del examen, el cuadro clínico, el motivo del examen y un cuestionario a los padres. Resultados:Este estudio reveló que la mayor parte de los niños referidos para RxEED, eran lactantes que solamente presentaban regurgitació.

Neumomediastino espontáneo: enfisema retrofaringeo forma de presentación no habitual / Unusual presentation of spontaneous pneumomediastinum: retropharyngeal emphysema

El neumomediastino espontáneo, es una patología generalmente benigna y autolimitada, caracterizado por la presencia de aire en el mediastino, no asociada a causa directa conocida. Es de infrecuente ocurrencia y su manifestación con síntomas referidos a la región cervical en forma exclusiva lo es más aún. Reportamos dos casos relacionados a actividad deportiva intensa, que se presentaron con síntomas cervicales, que no fueron diagnosticados en una primera consulta en el Servicio de Urgencia. La evaluación inicial incluyó un estudio radiológico de cuello en un caso y de columna cervical en el otro, de los cuales sólo la segunda lectura en el Servicio de Radiología permitió detectar aire prevertebral. El estudio posterior con tomografía computada demostró un neumo-mediastino con extensión al cuello sin patología pulmonar subyacente. La evolución de los pacientes fue satisfactoria. Se discute la fisio-patología del neumomediastino y se comenta la sobre-evaluación a la que generalmente son sometidos estos pacientes.

Region inguinal: ultrasonografia / Groin region: Ultrasonography

Se revisa la anatomía, desarrollo embriológico, y la representación ultrasonográfica de la región inguinal. Se discute la patología que la afecta y la necesidad de su exploración con especial referencia a hernias en la edad pediátrica.