Heritability of Clinically Diagnosed Obsessive-Compulsive Disorder Among Twins.

This cohort study estimates the heritability of clinically diagnosed obsessive-compulsive disorder in a sample of twins.

Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2.

We report a 32-year-old G3P1 at 35 weeks 3 days with a dichorionic, diamniotic twin gestation who presented for evaluation secondary to ventriculomegaly (VM) in one twin. Fetal ultrasound and MRI demonstrated microcephaly, severe VM, compression of the corpus callosum, scalp and nuchal thickening, elongated ears, bilateral talipes, right-sided congenital diaphragmatic hernia (CDH), and loss of normal cerebral architecture, indicative of a prior insult in the affected twin. The co-twin was grossly normal. The family pursued a palliative care pathway for the affected twin and was delivered at 37 weeks and 6 days. The affected twin passed away within the first hour of life due to respiratory compromise. Postmortem trio exome sequencing identified a homozygous likely pathogenic variant in ATP1A2 (c.2439+1G>A). Although this variant is novel, it is predicted to affect the donor split site in intron 17, resulting in a frameshift and complete loss-of-function of the gene. Biallelic loss of function variants in this gene have been reported in seven individuals with multiple anomalies similar to those in the affected twin. However, only one other individual with a possible CDH has been previously reported. Our case suggests that CDH be included in the phenotypic spectrum of this disorder and reports the first frameshift mutation causing this autosomal recessive multiple congenital anomaly syndrome.

Age-related macular degeneration discordance in monozygotic twin pairs.

PURPOSE: To examine age-related macular degeneration (AMD) and retinal pigment epithelium (RPE)-Bruch's membrane (BrM) complex volume associations in monozygotic twin pairs. METHODS: In this study, 106 elderly twins (53 twin pairs) from the Finnish Twin Cohort study were recruited. Each participant underwent dilated 35-degree digital colour fundus photography (CFP), and spectral domain optical coherence tomography (OCT) and replied to a structured study questionnaire. The CFPs were graded according to the Age-Related Eye Disease Study (AREDS) classification. The OCT images were segmented and volumetric data of the RPE-BrM complex volume was calculated with the Orion™ software. The worse eye according to AREDS classification was used for the analysis. RESULTS: Twenty-nine (55%) of the twin pairs were discordant with regard to AREDS classification. Fourteen (26%) pairs were discordant with one twin participant having AMD (AREDS 2-4) and the other being unaffected (AREDS 1). Four (8%) pairs had one twin participant with intermediate or late AMD (AREDS 3-4) versus the other being unaffected (AREDS 1). The within-pair polychoric correlation for AREDS was 0.605 (95% confidence interval 0.418-0.792). In multivariate analysis intermediate and late AMD as well as age associated with RPE-BrM complex volume. RPE-BrM complex volume showed a within twin pair correlation, r = 0.430 (95% confidence interval 0.172-0.688, p < 0.01). CONCLUSION: A substantial proportion of monozygotic twin pairs are discordant with regard to age-related macular degeneration phenotype. RPE-BrM complex volume associated with age and intermediate and late AMD.

Restricción de crecimiento aumenta el riesgo de displasia broncopulmonar, muerte y sepsis en gemelos de 30 o menos semanas de gestación / Growth restriction increases the risk of bronchopulmonary dysplasia, death, and sepsis in twins of 30 weeks or less of gestation

INTRODUCCIÓN: Múltiples factores influyen en el riesgo de morbimortalidad del prematuro con restricción del crecimiento intrauterino (RCIU). La comparación de gemelos con crecimiento intrauterino discordante permite evaluar su efecto, excluyendo factores maternos y manejo prenatal. Nuestro objetivo fue evaluar el efecto de la RCIU sobre la morbilidad aguda, crónica y mortalidad, en parejas de recién nacidos gemelares prematuros extremos. PACIENTES Y MÉTODO: Gemelos menores de 1500 g y 30 semanas de gestación, de la Red Neocosur. Se realizaron análisis separados de pares de gemelos concordantes, discordantes leves y severos, evaluando el efecto de la RCIU sobre morbi-mortalidad. Se realizó análisis multivariado para establecer magnitud del efecto. RESULTADOS: 459 pares de gemelos, 227 concordantes, 110 discordantes leves y 122 severos. Entre los concordantes solo hubo diferencia en uso de oxígeno a las 36 semanas. En discordantes leves, el menor tuvo menos enfermedad de membrana hialina y requirió menos dosis de surfactante, pero tuvo un mayor riesgo de Displasia broncopulmonar (DBP) o muerte. En discordantes severos, el menor presentó mayor mortalidad, sepsis, utilización y permanencia en ventilación mecánica, pese a menor frecuencia de enfermedad de membrana hialina. En regresión múltiple, el riesgo combinado de DBP o muerte fue mayor en gemelo menor y discordante severo. CONCLUSIÓN: En gemelos discordantes, la patología respiratoria aguda fue más frecuente en el gemelo mayor, aunque el riesgo de DBP o muerte fue mayor en el gemelo con RCIU.

INTRODUCTION: Multiple factors influence the risk of morbidity and mortality of premature infants with intrauterine growth restriction (IUGR). The comparison of twins with different intrauterine growth allows evaluating the effect of the restriction, excluding maternal factors and prenatal mana gement. Our objective was to assess the effect of IUGR on acute and chronic morbidity, and mortality of extreme preterm twins. PATIENTS AND METHOD: Twins weighing less than 1500 grams and gesta tion equal to or less than 30 weeks, of the Neocosur Network. Separate analyses were performed on concordant twin pairs, and on mild and severe discordant twins, evaluating the effect of IUGR on morbidity and mortality. A multivariate analysis was performed in order to establish the impact of this effect. RESULTS: 459 twin pairs, 227 concordant twins, 110 of mild discordance, and 122 of severe discordance. Among the concordant ones, there was only a difference in oxygen uptake at 36 weeks. In those of mild discordance, the smaller twin presented a lower frequency of hyaline membrane disease and required fewer doses of surfactant, but had a higher risk of bronchopulmonary dysplasia (BPD) or death. In severe discordant twins, the smaller one presented higher mortality, sepsis, use and permanence in mechanical ventilation, despite the lower frequency of hyaline membrane disease. In multiple regression analysis, the combined risk of BPD or death was higher in the smaller twin and of severe discordance. CONCLUSION: In discordant twins, the acute respiratory pathology was more frequent in the larger one, although the risk of BPD or death was higher in the one with IUGR.

Falso negativo en el primer cribado neonatal de hipotiroidismo congénito en recién nacido gemelo / False negative in the first neonatal screening for congenital hypothyroidism in a newborn twin

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Twin reversed arterial perfusion sequence: acardiac-acephalic twin - a case report

Acardiac-acephalic twin is one of the bizarre complications of monozygotic, monochorionic twin pregnancies. It is commonly referred to as Twin Reversed Arterial Perfusion (TRAP) sequence, in which the primary malformation is the lack of a well-defined cardiac structure in one twin (acardiac), which is kept alive by its structurally normal co-twin (pump twin) through abnormal placental vascular anastomosis. The anomalous twin appears as a heterogenous mass simulating a teratoma, with absence of head, neck and upper limbs. Thoracic organs are either absent or underdeveloped. The majority of the acardiac twins are of female sex and have no chance of survival, and more than 50% of the fetuses have some chromosomal anomalies. The perinatal mortality rate of pump twin may be as high as 50 - 75%, mainly due to polyhydramnios, preterm labor and high-output cardiac failure. The diagnosis of the TRAP sequence can be established as early as 9th week by regular gray-scale ultrasonography and transvaginal Doppler ultrasonography. Assessment of extent of cardiac failure in the pump fetus and timing of the delivery are the key factors in the pregnancy management and in the survival of the normal co-twin. The majority of the pregnancies are managed conservatively, but in a minority group a minimally invasive procedure was needed to arrest the vascular anastomosis to improve the outcome of pump twins. The case presented here reports on an acardiac-acephalic twin; it describes variable clinical presentations, pathophysiology and treatment modalities. It also reviews pertinent literature

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Variabilidad fenotípica de la fibrosis quística: reporte de 2 gemelos con la mutación F508/F508 / Phenotypic variability of cystic fibrosis: case report of twins with F508/F508 mutation

Introduction: Cystic fibrosis (CF) is an autosomal recessive disease caused by a mutation in the CFTR gene, resulting in an alteration of a protein involved in sodium and chloride transport in the apical plasma membrane of epithelial cells in respiratory and intestinal tracts. It primarily presents respiratory compromise, affecting other systems in different ways. Meconium ileus is a gastrointestinal manifestation that occurs in 10-20% of patients, which is not entirely attributable to a specific CFTR mutation. Objective: To report a case of monozygotic twins diagnosed with CF (F508) in whom phenotypic variation is evident based on the expression of meconium ileus, showing that there are external modifiers in the development of this complication. Case report: monoamniotic monochorionic twin pregnancy which resulted in preterm births. One of the patient presented meconium ileus at birth leading to CF suspicion and establishing the diagnosis by (F508/F508) molecular analysis in both twins. Conclusion: Phenotypic variability in these twins supports the hypothesis proposed by different authors that there are other gene expression-modulation factors of the disease as well as environmental modifiers that must be taken into account when dealing with this disease.

Introducción: La fibrosis quística (FQ) es una enfermedad autosómica recesiva debida a una mutación en el gen CFTR, resultando en una alteración de una proteína implicada en el transporte de sodio y cloro en la membrana apical de células del epitelio respiratorio y gastrointestinal; presenta principalmente compromiso respiratorio, afectando otros sistemas de manera variable. El íleo meconial es una manifestación gastrointestinal presente en 10-20% de los pacientes, no del todo atribuible una mutación específica del CFTR. Objetivo: Reportar un caso de dos gemelos monocigóticos con diagnóstico de FQ (ΔF508), en quienes es evidente la variabilidad fenotípica en cuanto a la expresión de íleo meconial, poniendo de manifiesto que existen modificadores externos a la mutación en el desarrollo de esta complicación. Reporte de caso: Gemelos producto de embarazo monocorial monoamniotico, nacidos pretérmino, uno de ellos presenta íleo meconial al nacimiento lo que lleva al estudio de FQ, estableciendo el diagnóstico por análisis molecular (ΔF508/ΔF508) en ambos gemelos. Conclusión: La variabilidad fenotípica en estos gemelos apoya la hipótesis planteada por diferentes autores de que existen otras factores genéticos moduladores de la expresión de la enfermedad, así como modificadores ambientales, que deben ser tenidos en cuenta a la hora de abordar esta enfermedad.

Complicações fetais na gemelaridade monocoriônica: quadro clínico, fisiopatologia, diagnóstico e conduta / Fetal complications in monochorionic twin pregnancy: clinical features, pathophysiology, diagnosis and management

A incidência de gemelaridade monocoriônica é de um para cada duzentos e cinquenta gestações. A placenta monocoriônica está relacionada a maior risco de complicações gestacionais, como transfusão feto-fetal, restrição seletiva do crescimento fetal, óbito fetal e gêmeo acárdico. Portanto, a avaliação criteriosa da corionicidade, o monitoramento da gestação e a detecção precoce de complicações são fatores importantes para melhorar o desfecho neonatal. Assim, o objetivo deste estudo é descrever as principais complicações fetais da gestação monocoriônica e qual deve ser a conduta obstétrica diante das diversas situações adversas. Foi realizada uma revisão de literatura dos últimos 28 anos, nas bases de dados MEDLINE/Pubmed, Scielo, LILACS e BIREME, sendo encontrados 401 artigos. Dentre estes, 28 estudos foram selecionados para esta revisão.(AU)

The incidence of monochorionic twin pregnancy is one in every two hundred and fifty pregnancies. The monochorionic placenta is associated with higher risk of pregnancy complications, such as fetal-fetal transfusion, selective fetal growth restriction, fetal death and acardiac twin. Therefore, a careful assessment of chorionicity, monitoring of pregnancy and early detection of complications are important factors to improve neonatal outcomes. Thus, the aim of this study is to describe the major fetal complications of monochorionic pregnancy and the better and what should be the obstetric approach considering the various adverse situations. A literature review of the past 28 years was performed in MEDLINE/PubMed, SciELO, LILACS and BIREME, being found 401 articles. Of these, 28 studies were selected for this review.(AU)

Incontinentia pigmenti in 22-month old Afro-Caribbean fraternal twin girls: a case report / Incontinencia pigmentaria en gemelas afrocaribeñas de 22 meses: un reporte de caso

Incontinentia pigmenti is a rare X-linked dominant condition characterized by cutaneous, neural, ocular and dental manifestations. The condition has mainly been reported in Caucasian females. The aim of this case report is to highlight the clinical presentation in Afro-Caribbean twin girls. The girls demonstrated abnormal hair distribution, pigmented limbs and torso, small conical or missing teeth with delayed dental eruption.

La incontinencia pigmentaria es una rara condición dominante ligada al cromosoma X, caracterizada por manifestaciones cutáneas, nerviosas, oculares y dentales. La condición ha sido reportada principalmente en mujeres caucásicas. El objetivo de este reporte de caso es resaltar su presentación clínica en gemelas afrocaribeñas. Las chicas mostraron una distribución anormal del cabello, extremidades y torso pigmentados, pequeños dientes cónicos o ausentes con retraso en el brote dental.

Compromiso ocular en la enfermedad de Chagas congénita: Cases report / Ocular involvement in congenital Chagas disease

El compromiso ocular es una forma de presentación infrecuente en los niños con la enfermedad de Chagas congénita. Se presentan tres pacientes menores de dos meses de edad con compromiso ocular, todos ellos derivados al hospital para control oftalmológico por prematuridad. El diagnóstico oftalmológico fue de vitreítis bilateral intensa (uveítis posterior) asociada a enfermedad de Chagas. Se realizó tratamiento antiparasitario, con buena respuesta en los tres casos. Debe considerarse la enfermedad de Chagas como diagnóstico diferencial de una patología ocular en los lugares donde la enfermedad es endémica y solicitar una evaluación oftalmológica en los niños con diagnóstico de la enfermedad, en especial aquellos sintomáticos y con antecedente de prematuridad.

Ophthalmic compromise is infrequent in children with congenital Chagas disease. We present 3 patients under 2 months of age, with ocular involvement, all of them referred to the hospital for ophthalmic evaluation of the premature newborn. The ophthalmic finding was bilateral severe vitreitis (posterior uveitis) related to Chagas disease. They received antiparasitic therapy with a good outcome in all cases. Chagas disease must be considered as differential diagnosis of ocular pathology in those countries where the pathology is endemic, and fundoscopic evaluation must be done in those children with the diagnosis, especially those symptomatic and prematurely born.

Compromiso ocular en la enfermedad de Chagas congénita: Cases report / Ocular involvement in congenital Chagas disease

El compromiso ocular es una forma de presentación infrecuente en los niños con la enfermedad de Chagas congénita. Se presentan tres pacientes menores de dos meses de edad con compromiso ocular, todos ellos derivados al hospital para control oftalmológico por prematuridad. El diagnóstico oftalmológico fue de vitreítis bilateral intensa (uveítis posterior) asociada a enfermedad de Chagas. Se realizó tratamiento antiparasitario, con buena respuesta en los tres casos. Debe considerarse la enfermedad de Chagas como diagnóstico diferencial de una patología ocular en los lugares donde la enfermedad es endémica y solicitar una evaluación oftalmológica en los niños con diagnóstico de la enfermedad, en especial aquellos sintomáticos y con antecedente de prematuridad.(AU)

Ophthalmic compromise is infrequent in children with congenital Chagas disease. We present 3 patients under 2 months of age, with ocular involvement, all of them referred to the hospital for ophthalmic evaluation of the premature newborn. The ophthalmic finding was bilateral severe vitreitis (posterior uveitis) related to Chagas disease. They received antiparasitic therapy with a good outcome in all cases. Chagas disease must be considered as differential diagnosis of ocular pathology in those countries where the pathology is endemic, and fundoscopic evaluation must be done in those children with the diagnosis, especially those symptomatic and prematurely born.(AU)

¿Es eficaz el tratamiento con hidroxicloroquina en el déficit de proteína C surfactante? / Is Treatment With Hydroxychloroquine Effective in Surfactant Protein C Deficiency?

Presentamos el caso de 2 hermanos gemelos con déficit de proteína C surfactante que fueron tratados mediante el empleo de hidroxicloroquina durante 3 años, con aparente éxito. La fisiopatología exacta de esta enfermedad no se conoce, y no disponemos de ningún tratamiento específico para ella; tan solo tenemos noticia de unas pocas descripciones previas en la literatura sobre el uso de hidroxicloroquina para el déficit de proteína C surfactante con resultados satisfactorios. Dos años después de la retirada del tratamiento se volvió a evaluar a los gemelos: no presentaron nuevas infecciones, el crecimiento y el estado general fueron normales, y la TC de tórax mostró una notable reducción adicional de la neumopatía intersticial. Estos datos parecen poner en duda la eficacia de la hidroxicloroquina, y sugieren que la mejoría clínica fue simplemente la evolución natural de la enfermedad (AU)

We present the case of two twin brothers with surfactant protein C deficiency who were treated with hydroxychloroquine for three years, with apparent success. The exact physiopathology of this disease is not known and there is no specific treatment for it. There is merely news from a few previous descriptions in the literature about the use of hydroxychloroquine for surfactant protein C deficiency with satisfactory results. Two years after the treatment was withdrawn, the twins were evaluated once again: they presented no new infections, growth and general state were normal and chest CT showed a notable additional reduction in the interstitial pneumopathy. These data seem to cast some doubt on the efficacy of hydroxychloroquine, and they suggest that the clinical improvement was simply the natural evolution of the disease (AU)

Compromiso ocular en la enfermedad de Chagas congénita: Cases report. / [Ocular involvement in congenital Chagas disease].

Ophthalmic compromise is infrequent in children with congenital Chagas disease. We present 3 patients under 2 months of age, with ocular involvement, all of them referred to the hospital for ophthalmic evaluation of the premature newborn. The ophthalmic finding was bilateral severe vitreitis (posterior uveitis) related to Chagas disease. They received antiparasitic therapy with a good outcome in all cases. Chagas disease must be considered as differential diagnosis of ocular pathology in those countries where the pathology is endemic, and fundoscopic evaluation must be done in those children with the diagnosis, especially those symptomatic and prematurely born.

Folie a deux: una cuestión nosográfica o solo una locura compartida? / [Folie a deux: a nosographic question or just a shared madness?].

Folie a deux was described by LasÞgue and Falret in 1877. The concept evolved thus giving rise to different variants of the same reported phenomenon. Taking a clinical case as an example, a review of the nosological definition of shared psychotic disorder was performed. Limitations were found in its descriptions of the subtypes of this unique clinical picture. In this paper we evaluate if its argument has real implications for the purpose of establishing a diagnosis and performing a definite therapeutic approach.

Folie a deux: una cuestión nosográfica o solo una locura compartida? / [Folie a deux: a nosographic question or just a shared madness?].

Folie a deux was described by LasÞgue and Falret in 1877. The concept evolved thus giving rise to different variants of the same reported phenomenon. Taking a clinical case as an example, a review of the nosological definition of shared psychotic disorder was performed. Limitations were found in its descriptions of the subtypes of this unique clinical picture. In this paper we evaluate if its argument has real implications for the purpose of establishing a diagnosis and performing a definite therapeutic approach.

Síndrome de Phelan McDermid: descripción de cinco pacientes e informe del primer caso descripto en gemelas siamesas / Phelan McDermid Syndrome: five patients description and report on the frst case described in conjoined twins

El síndrome de Phelan McDermid es producido por una pérdida de material genético, en un cromosoma del par 22, a nivel de la banda q13.3. Se describieron cinco pacientes con deleción 22q13.3 para correlacionar genotipo-fenotipo y comunicar el primer caso descripto en gemelas siamesas. Se registraron antecedentes perinatales, psicomotores, conducta, lenguaje y presencia de dismorfas. Se realizó cariotipo e hibridación in situ fuorescente (FISH) para región crítica 22q13.3. Presentaron hipotonía, dismorfas menores, retraso madurativo y retraso o ausencia del lenguaje. Se confrmó deleción 22q13.3 en los cinco pacientes, encontrándose una deleción en dos casos y un anillo del cromosoma 22 en tres, siendo uno con línea pura, y las siamesas, con mosaicismo, con una línea celular normal. En pacientes con clínica sugestiva y fenotipo evocador de síndrome velo-cardio-facial, se debe realizar cariotipo y FISH para región crítica 22q11.2 con sonda control 22q13.3, para detectar la deleción del Síndrome de Phelan McDermid.

Phelan McDermid Syndrome is caused by the loss of genetic material in a chromosome from pair 22, at the band q13.3. We describe fve patients with deletion 22q13.3 in order to establish a genotype-phenotype association, and report the frst case described in conjoined twins. We analyzed the perinatal history, psychomotor behavior, language, and the presence of minor dysmorphism. Karyotypes and in situ hibridization (FISH) for critical region 22q13.3 were performed to all patients. There were hypotonia, developmental delay, and delay or absence of language. A 22q13.3 deletion was detected in all patients described, two cases had a deletion and the other three had a ring of chromosome 22, one in a pure cell line, while the twins presented mosaicism. Karyotype and FISH for 22q11.2 critical region should be performed, with 22q13.3 control probe to detect the deletion of Phelan McDermid syndrome in all patients with clinical phenotype suggestive and evocative of velo-cardio-facial syndrome.

Síndrome de Phelan McDermid: descripción de cinco pacientes e informe del primer caso descripto en gemelas siamesas / Phelan McDermid Syndrome: five patients description and report on the frst case described in conjoined twins

El síndrome de Phelan McDermid es producido por una pérdida de material genético, en un cromosoma del par 22, a nivel de la banda q13.3. Se describieron cinco pacientes con deleción 22q13.3 para correlacionar genotipo-fenotipo y comunicar el primer caso descripto en gemelas siamesas. Se registraron antecedentes perinatales, psicomotores, conducta, lenguaje y presencia de dismorfas. Se realizó cariotipo e hibridación in situ fuorescente (FISH) para región crítica 22q13.3. Presentaron hipotonía, dismorfas menores, retraso madurativo y retraso o ausencia del lenguaje. Se confrmó deleción 22q13.3 en los cinco pacientes, encontrándose una deleción en dos casos y un anillo del cromosoma 22 en tres, siendo uno con línea pura, y las siamesas, con mosaicismo, con una línea celular normal. En pacientes con clínica sugestiva y fenotipo evocador de síndrome velo-cardio-facial, se debe realizar cariotipo y FISH para región crítica 22q11.2 con sonda control 22q13.3, para detectar la deleción del Síndrome de Phelan McDermid.(AU)

Phelan McDermid Syndrome is caused by the loss of genetic material in a chromosome from pair 22, at the band q13.3. We describe fve patients with deletion 22q13.3 in order to establish a genotype-phenotype association, and report the frst case described in conjoined twins. We analyzed the perinatal history, psychomotor behavior, language, and the presence of minor dysmorphism. Karyotypes and in situ hibridization (FISH) for critical region 22q13.3 were performed to all patients. There were hypotonia, developmental delay, and delay or absence of language. A 22q13.3 deletion was detected in all patients described, two cases had a deletion and the other three had a ring of chromosome 22, one in a pure cell line, while the twins presented mosaicism. Karyotype and FISH for 22q11.2 critical region should be performed, with 22q13.3 control probe to detect the deletion of Phelan McDermid syndrome in all patients with clinical phenotype suggestive and evocative of velo-cardio-facial syndrome.(AU)

Encefalitis herpética neonatal: dos gemelas, dos casos / Neonatal herpes simplex encephalitis: two twins, two cases

Herpes simplex encephalitis is an infrequent infection with high mortality and morbidity. Antiviral therapies decrease mortality but long term sequelae are still high, so early diagnosis is important for opportune treatment. We present a pair of twins with central nervous system herpes simplex infection during the first month of life. Both twins presented non-specific symptoms and consulted with 48 hours apart needing intensive care admission, the first one for noninvasive mechanical ventilation and the second for hemodynamic support. Diagnosis was made by cerebrospinal fluid PCR, in the first twin at day 9 of disease and in the second at admission. Both twins were treated with acyclovir, but only the second one at the beginning of her illness. Initial study with electroencephalogram and magnetic resonance was normal and cerebrospinal fluid on day 18 of treatment was negative for herpes simplex virus DNA detection in both patients.

La encefalitis herpética en una infección poco frecuente, pero que condiciona alta morbilidad y mortalidad. Las terapias antivirales han logrado disminuir la mortalidad pero no las secuelas a largo plazo que siguen siendo altas, por lo que el énfasis está puesto en la precocidad del diagnóstico, en aras de implementar un tratamiento oportuno. Se presenta el caso de dos gemelas con encefalitis causada por virus herpes simplex durante el primer mes de vida. Ambas gemelas presentaron síntomas inespecíficos al mes de vida y consultaron con 48 horas de diferencia, necesitando cuidados intensivos, la primera por requerimientos de ventilación mecánica no invasora y la segunda por inestabilidad hemodinámica. El diagnostico fue realizado por RPC cualitativa en LCR positivo para VHS, en la primera gemela el día 9 de síntomas y en la segunda al momento de su consulta. Ambas gemelas recibieron aciclovir, pero sólo la segunda precozmente, desde el inicio de los síntomas. El estudio inicial en ambas, incluyendo EEG y RM, resultó normal y el LCR del día 18 de tratamiento no presentaba ADN de VHS en ambas pacientes.

Gemelos monoamnióticos discordantes para cardiopatía / Monochorial-monoamniotic twins discordant for congenital heart disease

Presentamos el caso de una gestación monocorial-monoamniótica, con diagnóstico en uno de los gemelos de defecto auriculoventricular completo, truncus arterioso, atresia de arteria pulmonar y dudoso drenaje venoso anómalo. No se encuentran descripciones de casos similares en la literatura. Tras un seguimiento ecográfico detallado, en la semana 32 se realizan la maduración fetal y la cesárea electiva; se obtienen dos recién nacidos de bajo peso pero ambos con test de Apgar y pH arterio-venoso umbilical normales. El primer gemelo, portador de la cardiopatía, tiene una evolución posnatal desfavorable y fallece a los 16 días de vida. La evolución del segundo gemelo es favorable(AU)

We report a case of monochorial-monoamniotic twin pregnancy, with diagnosis of an atrioventricular defect, complete truncus arteriosus, pulmonary artery atresia and doubtful anomalous venous drainage in one of the twins. There are no descriptions of similar cases in the literature. After detailed ultrasound follow-up, fetal maturation and elective cesarean section were performed at 32 weeks. The two neonates had low birth weight but Apgar tests and umbilical arteriovenous pH parameters were normal in both. The first newborn twin was diagnosed with congenital heart disease and showed unfavorable postnatal development, dying at 16 days old. Outcome in the second twin was favorable(AU)