RESUMO

El síndrome de Herlyn-Werner Wünderlich, también llamado OHVIRA por sus siglas en inglés (obstructed hemivagina and ipsilateral renal anomaly), es una anomalía congénita mülleriana poco frecuente que se caracteriza por la asociación entre útero didelfo, hemivagina obstruida y agenesia renal ipsilateral. La presentación clínica más común es la masa abdominal secundaria a hematocolpos, dolor y dismenorrea. Se asocia a infertilidad, endometriosis, alteraciones menstruales y obstétricas. La ecografía es la técnica de elección para la evaluación inicial, mientras que la resonancia magnética sigue siendo el método más exacto para el diagnóstico. La septotomía vaginal es el tratamiento recomendado. Se describen 2 casos clínicos con el objetivo de destacar la importancia del diagnóstico temprano para evitar las posibles complicaciones futuras.

Herlyn-Werner-Wunderlich syndrome, also known as obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), is a rare, congenital Müllerian duct anomaly characterized by the association of septate uterus, obstructed hemivagina, and ipsilateral renal agenesis. The most common clinical presentation is an abdominal mass secondary to hematocolpos, pain, and dysmenorrhea. It is associated with infertility, endometriosis, and menstrual and obstetric alterations. The ultrasound is the technique of choice for the initial assessment, while the magnetic resonance imaging remains the most accurate method for diagnosis. The resection of the vaginal septum is the recommended treatment. Here we describe 2 clinical cases to highlight the importance of an early diagnosis to prevent potential complications in the future.

Assuntos

RESUMO

Background: Coronary arteries originate from the first portion of the aorta, emerging from the right and left aortic sinuses. They traverse through the subepicardium and coronary sulcus to supply the myocardium during diastolic function. The objective of this review was to understand how the hypoplasia and agenesis of the coronary arteries are associated with cardiac pathologies. Methods: The databases Medline, Scopus, Web of Science, Google Scholar, CINAHL, and LILACS were researched until January 2024. An assurance tool for anatomical studies (AQUA) was used to evaluate methodological quality. The pooled prevalence was estimated using a random effects model. Results: A total of three studies met the established selection criteria for inclusion in this meta-analysis. The prevalence of coronary artery variants was 3% (CI = 2% to 8%), with a heterogeneity of 77%. The other studies were analyzed descriptively, along with their respective clinical considerations in the presence of the variant. Conclusions: Hypoplasia and the congenital absence of the coronary arteries are often incidental findings and understanding these variants is crucial to prevent misdiagnosis. Additionally, it is essential to exercise caution when considering surgical management for hearts with these variants.

RESUMO

Objetivo: describir el impacto de la agenesia no sindrómica de incisivos laterales maxilares permanentes en la oclusión. Material y método: se realizó una búsqueda de la evidencia disponible de manera electrónica en las bases de datos PubMed, Cochrane Library, EBSCOhost, SciELO y Epistemonikos, con filtro de búsqueda de artículos publicados entre los años 2005 y 2022, y con disponibilidad de texto completo. Resultados: se seleccionaron 9 estudios publicados entre los años 2010 y 2021; 3 estudios genéticos, 4 estudios transversales y 2 revisiones sistemáticas. Conclusión: la agenesia no sindrómica de incisivos laterales maxilares permanentes se relaciona con alteraciones esqueléticas y dentales que inciden en la oclusión dental. Un diagnóstico temprano y un tratamiento oportuno, según las necesidades de cada paciente, son importantes por las repercusiones funcionales y estéticas que genera esta alteración.

Objective: to describe the impact of non-syndromic agenesis of permanent maxillary lateral incisors on occlusion. Material and method: a search of the electronically available evidence was carried out in the PubMed, Cochrane Library, EBSCOhost, SciELO and Epistemonikos databases, with a search filter for articles published between 2005 and 2022, and with full text availability. Results: 9 studies were selected, published between 2010 and 2021: 3 genetic studies, 4 cross-sectional studies and 2 systematic reviews. Conclusion: Non-syndromic agenesis of permanent maxillary lateral incisors is related to skeletal and dental abnormalities that affect dental occlusion. Because of the functional and aesthetic repercussions of this alteration, early diagnosis and timely treatment, according to the needs of each patient, are essential.

Assuntos

RESUMO

La agenesia pulmonar (AgP), la aplasia pulmonar (AP) e hipoplasia pulmonar (HP) son malformaciones congénitas poco comunes. En la AgP, no se desarrollan el bronquio ni el pulmón; en la AP, hay un bronquio rudimentario sin parénquima pulmonar; y en la HP, uno o ambos pulmones presentan un tamaño reducido debido a trastornos en su crecimiento. Las causas de la AgP, AP y HP pueden ser tanto primarias como secundarias, predominando estas últimas. Entre ellas se incluyen: oligohidroamnios, anomalías esqueléticas, enfermedades neuromusculares, hernia diafragmática, malformaciones vasculares, cardiopatías complejas, genopatías y cromosomopatías. El rango de manifestaciones varía desde pacientes asintomáticos hasta aquellos con dificultad respiratoria neonatal de leve a severa. Con el tiempo, algunos pacientes pueden experimentar neumonías recurrentes y progresar hacia una enfermedad pulmonar crónica (EPC). La imagenología juega un papel crucial en el diagnóstico. El pronóstico está fuertemente influenciado por la presencia de otras malformaciones congénitas. Generalmente, el enfoque terapéutico es conservador. Este artículo detalla la presentación clínica y la evolución a lo largo de 24 años de 11 pacientes diagnosticados con AgP o HP.

Pulmonary agenesis (AgP), aplasia (AP), and hypoplasia (HP) are rare congenital malformations. In AgP, there is no development of the bronchus or lung; in AP, a rudimentary bronchus is present without lung parenchyma; and in HP, one or both lungs are reduced in size due to growth disorders. The causes of AgP, AP, and HP can be either primary or secondary, with the latter being more common. Examples include oligohydramnios, skeletal anomalies, neuromuscular diseases, diaphragmatic hernia, vascular malformations, complex heart diseases, genopathies, and chromosomal disorders. The spectrum of manifestations ranges from asymptomatic patients to those with mild to severe neonatal respiratory distress. Over time, some patients may experience recurrent pneumonias and progress to chronic lung disease (CLD). Imaging studies are crucial for diagnosis. The prognosis primarily depends on the presence of other congenital malformations. The treatment approach is generally conservative. This article describes the clinical presentation and evolution over 24 years of 11 patients diagnosed with AgP or HP.

Assuntos

RESUMO

Introducción: La glándula tiroides tiene su origen embriológico en la base de la lengua, desde donde desciende al cuello. Este proceso migratorio puede detenerse o continuar más allá, dando diferentes cuadros de tiroides ectópica. El quiste tirogloso es la alteración embriológica más frecuente en el cuello, pudiendo desarrollar cáncer como una complicación rara. Caso clínico: Paciente de 21 años con aumento de volumen cervical, se diagnostica quiste tirogloso, la biopsia identifica cáncer papilar en el quiste. Se decide completar tiroidectomía, se objetiva agenesia de glándula. Ante respuesta bioquímica incompleta se realiza cintigrama que identifica nódulo retrolingual, el cual es resecado. Discusión: La resección del quiste tirogloso se debe realizar según la descripción de Sistrunk para evitar recidivas. La historia natural del cáncer en quiste tirogloso es bastante menos conocida y podría tener un peor pronóstico que el cáncer tiroideo habitual. Existen grupos que defienden la necesidad de completar tiroidectomía y, eventualmente, realizar disecciones cervicales como parte de su manejo. Conclusión: El cáncer de quiste tirogloso es una patología infrecuente, Existen diferentes lineas de manejo que se discuten en la literatura. Aún el análisis individualizado de los pacientes en comités multidisciplinario de expertos es la conducta sugerida.

Introduction: The thyroid gland has its embryological origin from the base of the tongue, where it descends to the neck. This migratory process can stop early or continue beyond, giving rise to differents cases of ectopic thyroid. The thyroglossal cyst is the most frequent embryological alteration in the neck, and it can develop cancer as a rare complication. Clinical case: A 21 year old patient with a cervical volume increase is diagnosed a thyroglossal cyst. Biopsy identifies papilary cancer in the cyst. It is decided to complete de thyroidectomy, and agenesis of the gland is observed. Due to incomplete biochemical response, a scintigram is performed, wich identifies a retrolingual nodule that is resected. Discussion: The resection of the thyroglossus cyst should be performed according to the description of Sistrunk to avoid recurrence. The natural history of cancer in the thyroglossal cyst is much less known and could have a worst prognosis than usual thyroid cancer. Some groups advocate for the need to complete a thyroidectomy and eventually perform cervical dissections as part of its management. Conclusion: The cancer on a thyroglossal cyst is a rare pathology. There are diferents management approaches that are discussed in the literature. However, an individualized analysis of patients in multidisciplinary expert committees it still the suggested aproach.

RESUMO

Objetivo: Avaliar se alterações epigenéticas estão associadas à ocorrência da agenesia dentária não sindrômica. Métodos: Buscas computadorizadas foram conduzidas no PubMed, Web of Science, Ovid, Embase e Scopus. Consultas na literatura cinzenta (Open Grey), no Google Scholar e pesquisas manuais nas listas de referências dos artigos incluídos também foram realizadas. Apenas estudos caso-controle avaliando indivíduos com e sem agenesia dentária não sindrômica eram elegíveis. A seleção dos estudos, a extração de dados e a avaliação do risco de viés (ferramenta da Universidade da Adelaide) foram realizadas por dois autores de forma independente. Devido à diferença metodológica dos artigos incluídos, uma meta-análise não foi possível. Resultados: 206 artigos foram identificados nas bases de dados. Após a remoção de 128 duplicatas e a análise de 78 referências, oito artigos preencheram os critérios de elegibilidade e foram incluídos. Os estudos incluídos foram realizados na China, Turquia, Tunísia, Romênia e República Tcheca. As datas de publicação ocorreram entre 2015 e 2023. Os estudos com as menores amostras avaliaram cinco indivíduos com agenesia e cinco sem agenesia e o estudo com a maior amostra avaliou 625 indivíduos com agenesia e 1144 indivíduos sem agenesia. No total, essa revisão analisou 1325 indivíduos com agenesia e 1867 sem agenesia. Dos 33 polimorfismos de nucleotídeo único avaliados, 19 deles estavam potencialmente associados a uma maior suscetibilidade à agenesia dentária não sindrômica, sendo eles identificados nos genes PAX9, AXIN2, WNT10A, MDM2, MSX1 e BMP2. Foram identificadas 29 novas mutações. No geral, os artigos incluídos apresentaram baixo risco de viés. Conclusão: Existe a associação de algumas alterações epigenéticas com a ocorrência de agenesia dentária não sindrômica.

Aim: To assess whether epigenetic alterations are associated with the occurrence of non-syndromic tooth agenesis. Methods: Computerized searches were conducted in PubMed, Web of Science, Ovid, Embase, and Scopus databases. Grey literature searches (Open Grey), Google Scholar, and manual searches in the reference lists of included articles were also performed. Only case-control studies evaluating individuals with and without non-syndromic tooth agenesis were eligible. Study selection, data extraction, and bias assessment (University of Adelaide tool) were independently conducted by two authors. Due to methodological differences in the included articles, a meta-analysis was not feasible. Results: This study identified 206 articles in the databases. After removing 128 duplicates and reviewing 78 references, eight articles met the eligibility criteria and were included. The included studies were conducted in China, Turkey, Tunisia, Romania, and the Czech Republic. Publication dates ranged from 2015 to 2023. Studies with the smallest sample assessed five individuals with agenesis and five without agenesis, and the study with the largest sample assessed 625 individuals with agenesis and 1,144 without agenesis. In total, this review analyzed 1,325 individuals with agenesis and 1,867 without agenesis. Of the 33 single nucleotide polymorphisms evaluated, 19 were potentially associated with an increased susceptibility to non-syndromic tooth agenesis, and these were identified in the PAX9, AXIN2, WNT10A, MDM2, MSX1, and BMP2 genes. Twenty-nine new mutations were identified. Overall, the included articles demonstrated a low risk of bias. Conclusion: There is an association between certain epigenetic alterations and the occurrence of non-syndromic tooth agenesis.

Assuntos

RESUMO

Objetivo: Reportar el resultado a largo plazo de una serie de fetos con agenesia del septum pellucidum aislada (ASP), con medición de su quiasma óptico mediante neurosonografía fetal (NSG). Método: Se incluyeron todas las pacientes con ASP y NSG evaluadas desde el año 2008 a la fecha y con seguimiento hasta su edad escolar. En todos los casos se consignaron los datos clínicos de NSG y de resonancia magnética (RM), cuando esta se realizó. Se entrevistó telefónicamente a los padres. Resultados: Nueve pacientes cumplieron los criterios: cuatro con displasia septo-óptica (DSO) (rango de seguimiento: 5-14 años) y cinco sin DSO (rango de seguimiento: 7-10 años). Un décimo caso se excluyó por tener solo 6 meses de seguimiento. Ninguna de las ASP tuvo otra anomalía detectada en su seguimiento. Ninguno de los casos con DSO tuvo alteración del tamaño de su quiasma óptico en la NSG ni anormalidad en la vía óptica en la RM. Conclusiones: En nuestra población, el riesgo residual de DSO frente a ASP es del 44,4%. En el seguimiento, nuestra definición de ASP por NSG no tuvo falsos negativos con relación a otras anomalías de aparición posnatal, a excepción de la DSO.

Objective: To report the long-term outcome of a series of fetuses with isolated septum pellucidum agenesis (ASP) with measurement of their optic chiasm by fetal neurosonography (NSG). Method: All patients with ASP and NSG evaluated from 2008 to date and with follow-up until their school age were included. In all cases, clinical, NSG and magnetic resonance imaging (MRI) data were recorded. Parents were interviewed by telephone. Results: Nine patients met the criteria: four with septo-optic dysplasia (SOD) (follow-up range: 5-14 years) and five without SOD (follow-up range: 7-10 years). A tenth case was excluded because only 6 months of follow-up. None of the ASP cases had another anomaly detected in their follow-up. None of the cases with DSO had anomaly of the size of their optic chiasm on NSG or abnormality in the optical pathway in the MRI. Conclusions: In our population, the residual risk of DSO versus ASP is 44.4%. At follow-up, our NSG definition of ASP had no false negatives in relation to other postnatal-onset anomalies, except for SOD.

Assuntos

RESUMO

Malformações müllerianas correspondem a variações anatômicas do trato repro- dutor feminino. Comumente assintomáticas, o diagnóstico e a verdadeira incidên- cia são difíceis de determinar. A síndrome de Herlyn-Werner-Wunderlich, clas- sicamente descrita pela tríade útero didelfo, hemivagina cega e agenesia renal ipsilateral também pode ter variações diferentes. Em virtude da mesma origem embrionária dos tratos genital e urinário, anomalias renais devem ser investigadas nesses casos, sendo a mais comum a agenesia renal. Este artigo relata o caso de uma paciente de 18 anos, do sexo feminino, com história de piocolpo por cinco anos. Em propedêutica complementar, foi identificado útero com septação com- pleta associado a hemissepto de terço superior de vagina, formação de piocolpo e agenesia renal à direita. Apesar de não ser a definição clássica, o quadro está incluído nos casos de síndrome de Herlyn-Werner-Wunderlich.

Mullerian malformations correspond to anatomical variations of the female repro- ductive tract. Commonly asymptomatic, the diagnosis and true incidence are difficult to determine. The Herlyn-Werner-Wunderlich syndrome, classically described by the triad: uterus didelphus, blind hemivagina and ipsilateral renal agenesis, can also have different variations. Due to the same embryonic origin of the genital and urinary tracts, renal anomalies must be investigated in these cases, the most common being renal agenesis. This article reports the case of an 18-year-old female patient with a 5-year history of pyocolpus. In complementary exams, a uterus with complete septa- tion was identified, associated with a hemiseptum in the upper third of the vagina, formation of pyocolpus and renal agenesis on the right side. Despite not being the classic definition, it is included in the cases of Herlyn-Werner-Wunderlich syndrome.

Assuntos

RESUMO

Resumen: La malposición de los catéteres venosos centrales se asocia a importantes riesgos, a menudo infraestimados. Aunque se han descrito algunos factores que pueden favorecer la malposición, generalmente su causa no llega a diagnosticarse y parece ser de origen multifactorial. Presentamos dos casos de malposición de catéteres venosos centrales motivadas por causas anatómicas inusuales, diagnosticadas en el perioperatorio. En el primer caso, se diagnostica una agenesia de vena cava superior en el transcurso de una sustitución mitral por esternotomía, que lógicamente se asocia con una malposición de la vía central insertada. La utilización de catéteres y dispositivos a través de venas yugulares y subclavias en pacientes con esta infrecuente patología implica importantes limitaciones y complicaciones potenciales graves. En el segundo caso, la existencia de un bocio no diagnosticado provoca la malposición bilateral y simultánea de dos catéteres venosos canalizados, en el contexto de una situación de emergencia, en ambas venas yugulares internas.

Abstract: Malposition of central venous catheters is associated with important and underestimated risks. Although some factors have been related with malposition, its cause is generally not diagnosed, and it seems to have multifactorial origin. We present two cases of central venous catheter malposition due to unusual anatomical causes, diagnosed in the perioperative period. In the first case, superior vena cava agenesis was diagnosed during mitral replacement by sternotomy, which was logically associated with malposition of the inserted central line. The use of catheters and devices through jugular and subclavian veins in patients with this infrequent pathology is associated with important limitations and serious potential complications. In the second case, an undiagnosed goiter causes bilateral and simultaneous malpositioning of two inserted central venous catheters, in the context of an emergency situation, in both internal jugular veins.

RESUMO

Introducción: Los quistes interhemisféricos asociados a agenesia del cuerpo calloso constituyen un grupo infrecuente y heterogéneo de anomalías del SNC. Objetivo: Reportar nuestra experiencia en quistes interhemisféricos asociados a agenesia del cuerpo calloso (QIH/ACC), haciendo énfasis en sus características en la neurosonografía (NSG), su comparación con la resonancia magnética (RM) y su evolución clínica posterior. Método: Se incluyeron todas las pacientes con QIH/ACC evaluadas desde el año 2008. En todos los casos se consignaron los datos clínicos, de NSG y de RM cuando se realizó. Se entrevistó telefónicamente a los padres. Resultados: Fueron seleccionados 9 casos con QIH/ACC. De ellos, 5 fueron quistes tipo 1, 3 tuvieron anomalías asociadas y en los 3 hubo una anomalía genética patogénica. Cuatro casos fueron quistes tipo 2, 3 de ellos con un patrón NSG sugerente de síndrome de Aicardi. Hubo una excelente correlación entre NSG y RM, ya fuera esta última realizada ante- o posnatal, particularmente con relación a las malformaciones del desarrollo cortical asociadas al QIH/ACC. Conclusiones: En comparación con la RM y el resultado final, hubo alta concordancia con lo diagnosticado en la NSG, en especial en cuanto a malformaciones del desarrollo cortical asociadas, lo que añade valor al método diagnóstico que ofrecemos a nuestra población consultante.

Background: Callosal agenesis associated with interhemispheric cysts correspond to a rare and heterogenous group of CNS anomalies. Objective: To report our experience in interhemispheric cysts associated with agenesis of the corpus callosum (QIH/ACC), emphasizing its characteristics in neurosonography (NSG), its comparison with magnetic resonance imaging (MRI) and its subsequent clinical evolution. Method: All patients with QIH/ACC evaluated since 2008 were included. In all cases, clinical, NSG and MRI data were recorded when performed. The parents were interviewed by telephone. Results: A total of 9 cases were selected with QIH/ACC. 5 cases were type 1 cysts, 3 of them had associated abnormalities and in all 3 there was a pathogenic genetic anomaly. 4 cases were type 2 cysts, 3 of them with an NSG pattern suggestive of Aicardi syndrome. There was an excellent correlation between NSG and MRI, either before or postnatally, particularly in relation to cortical developmental malformations associated with QIH/ACC. Conclusions: Compared to MRI and the final result, there was high agreement with what was diagnosed in NSG, especially in what corresponds to associated cortical developmental malformations, which adds value to the diagnostic method we offer to our consulting population.

Assuntos