ABSTRACT
Resumen El objetivo de este trabajo es caracterizar los aspectos tomográficos relevantes en el síndrome de heterotaxia, mediante cuatro pacientes que ejemplifican los hallazgos más frecuentes en esta patología. Situs solitus es la disposición habitual de los órganos y vasos sanguíneos y situs inversus se refiere a la imagen en espejo del situs solitus. Cuando la disposición de los órganos es indeterminada e impredecible y no se corresponde con el situs solitus ni el situs inversus, estamos frente al situs ambiguus o síndrome de heterotaxia, espectro de anomalías poco frecuente en las relaciones de los órganos toracoabdominales. Puede acompañarse de isomerismo derecho o isomerismo izquierdo. Clasificarlo en dos subgrupos es habitualmente difícil, ya que ninguno de estos tiene hallazgos únicos y patognomónicos, sino que existe amplia superposición. Ambos son de mal pronóstico, en los casos de isomerismo izquierdo un 5-10% llegan a la edad adulta, siendo de peor pronóstico los casos de isomerismo derecho, debido a que presentan inmunodepresión secundaria a la asplenia y cardiopatías congénitas más severas. Se debe analizar cada caso de forma individualizada y detallada para establecer el diagnóstico, determinar la asociación lesional y establecer aquellos pacientes que presenten mayor riesgo de complicaciones.
Abstract The objective of this brief communication is to characterize the relevant tomographic aspects in the heterotaxy syndrome, by means of 4 patients that exemplify the most frequent findings in this pathology. Situs solitus is the usual arrangement of organs and blood vessels and situs inversus refers to the mirror image of situs solitus. When the arrangement of the organs is indeterminate and unpredictable and does not correspond to situs solitus or the situs inversus, we are facing the situs ambiguus or heterotaxy syndrome, abnormal spectrum of anomalies in the relations of the thoracoabdominal organs. It may be accompanied by right isomerism or left isomerism. Attempts to classify it into two subgroups are usually difficult since none of these has unique and pathognomonic findings, but rather there is broad overlap. Both are of poor prognosis, in the cases of left isomerism 5-10% reach adulthood, with a worse prognosis being the cases of right isomerism due to the fact that they have immunodepression secondary to asplenia and more severe congenital cardiopathies. Each case should be analyzed in an individualized and detailed manner to establish the diagnosis, determine the lesional association and establish those patients that present a higher risk of complications.
Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Cardiovascular Abnormalities/diagnostic imaging , Heterotaxy Syndrome/diagnostic imaging , Risk Factors , Embryonic Development , IsomerismABSTRACT
Heterotaxy syndrome is defined as an abnormal arrangement of some organs and vessels in association with dysmorphism. The authors describe the case of a patient with heterotaxy syndrome with poliesplenia incidentally diagnosed during imaging evaluation (computed tomography and small bowel barium study) of unrelated pathological condition.
Síndrome heterotáxica é definida como um arranjo anormal de alguns órgãos e vasos em associação a dismorfismo. Descrevemos o caso de uma paciente com síndrome heterotáxica diagnosticada incidentalmente durante avaliação por imagem (tomografia computadorizada e radiografia contrastada do intestino delgado) de condição patológica não relacionada.
ABSTRACT
Las Anomalías del Situs (ASIT) han sido descritas principalmente en la población pediátrica y existe escasa información sobre éstas en el adulto. Son anomalías muy raras; en el caso del Situs Ambiguous (SAMB) en el adulto sólo se han publicado pocas series de casos. SAMB, también llamado heterotaxia o Síndrome de heterotaxia, es definido como la posición anormal o ambigua de los órganos y vasos, que además pueden asociarse a alteraciones morfológicas características de cada órgano. Existen dos grandes grupos dentro de los SAMB: Poliesplenia y Asplenia. En la presente publicación se expone una revisión bibliográfica específica, la cual tiene énfasis en clasificación de las ASIT del adulto y los hallazgos abdominales en los casos de SAMB. Será complementada clínica e imaginológicamente con cuatro casos de estudios tomográficos abdominales.
Anomalies Situs (ASIT) has been described mainly in the pediatric population and there is little information on this in adults. These are very rare abnormalities; in the case of Situs Ambiguous (SAMB) in adults, there have only been a few published case series. SAMB, also called heterotaxy or heterotaxy Syndrome, is defined as the abnormal or ambiguous positioning of organs and vessels, that could also be associated with morphological alterations characteristic of each organ. There are two main groups within SAMB: polysplenia and asplenia. This publication present a specific literature review, with emphasis on the classification of adult ASIT and abdominal findings in cases of SAMB. It will be complemented clinically and radiologically with four cases of abdominal tomographic imaging studies.
Subject(s)
Female , Abnormalities, Multiple , Situs Inversus , Abdomen , Spleen/abnormalities , Spleen , Magnetic Resonance Imaging , Heterotaxy Syndrome , Tomography, X-Ray ComputedABSTRACT
A síndrome de poliesplenia e pâncreas curto é considerada uma anomalia congênita rara, freqüentementeassociada a malformações cardiovasculares e abdominais. Na literatura consultada não foram descritos casos desta síndrome associada à trombose da veia porta com transformação cavernomatosa da mesma. Neste estudo é apresentado o caso de um paciente com síndrome depoliesplenia, pâncreas curto, trombose da veia porta, sendo também observada má-rotação intestinal e interrupção da veia cava inferior com fluxo colateral para a veia ázigos. Enfatiza-se o papeldos métodos de imagem ù trânsito intestinal, tomografia computadorizada e ecografia com Doppler em cores ù no diagnóstico destas anomalias.
Polysplenia syndrome with short pancreas is a rare congenital anomaly usually associated with cardiovascular and abdominal malformations. We describe a patient with this syndrome associated with portal vein thrombosis and cavernous transformation, anassociation that has not been reported before. This patient also had intestinal malrotation and interruption of the inferior vena cava with azygous continuation. Special attention is drawn to the role of imaging studies ù bowel transit, computed tomography andcolor Doppler sonography ù in the diagnosis of these anomalies.