ABSTRACT
La triade bronchectasies, sinusites et situs inversus caractérisent le syndrome de Kartagener. Sa transmission est autosomique récessive. Le cas de cette jeune fille de 19 ans que nous rapportons permet de déterminer la place de l'imagerie dans la démarche diagnostique de cette pathologie. La patiente présentait un syndrome clinique respiratoire récidivant depuis sa naissance. Le diagnostic a été posé par l'examen scannographique. L'évolution de la maladie dépend de la précocité du diagnostic.
Subject(s)
Humans , Situs Inversus , Kartagener Syndrome , Dyspnea , Early DiagnosisABSTRACT
Introducción. La oclusión intestinal, completa o incompleta, es uno de los cuadros de abdomen agudo más frecuentes. Constituye entre 20 % y 35 % de los ingresos urgentes en las áreas quirúrgicas hospitalarias. Caso clínico. Se presenta el caso de un paciente con antecedente de carcinoma de próstata, que consultó con un cuadro de obstrucción intestinal y abdomen agudo. Se le diagnosticó vólvulo de ciego, mal rotación intestinal y situs ambiguous. El tratamiento quirúrgico del paciente fue exitoso. Conclusión. El conocimiento de estas condiciones patológicas es imprescindible para poder brindarle un correcto tratamiento quirúrgico y disminuir la mortalidad que pueden acarrear
Introduction. Complete or incomplete intestinal obstruction is one of the most frequent acute abdomen conditions. It constitutes between 20% and 35% of the urgent admissions of hospital surgical areas. Clinical case. We present a case of a patient with a history of prostate carcinoma, who began with clinical symptoms of intestinal obstruction and acute abdomen. He was diagnosed with volvulus of the cecum, intestinal malrotation, and situs ambiguous. Surgical treatment of the patient was successful. Conclusion. Knowledge of these pathological conditions is essential to be able to provide correct surgical treatment and reduce the mortality that these can lead to
Subject(s)
Humans , Situs Inversus , Congenital Abnormalities , Intestinal Obstruction , Cecum , Intestinal Volvulus , Abdomen, AcuteABSTRACT
Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disease, and is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. This paper reports the case of a 27-year-old female presenting with dyspnea on medium exertion, accompanied by chronic cough, non-productive or with clear expectoration. She had recurrent pneumonia until 15 years of age and underwent a lobectomy in the lower lobe of the left lung, probably due to bronchiectasis. Chest computed tomography showed situs inversus totalis, signs of previous surgical manipulation, and mild bronchial thickening. Computed tomography of the paranasal sinuses showed signs of chronic sinusitis due to a probable ciliary kinesis disorder. These finding suggest the diagnosis of Kartagener's syndrome. The prognosis reveals a slow rate of decline in lung function. However, repeated or chronic infections can negatively influence the quality of life of these patients.
Subject(s)
Humans , Female , Adult , Situs Inversus/diagnostic imaging , Kartagener Syndrome/complications , Dextrocardia/diagnosis , Situs Inversus/complications , Kartagener Syndrome/diagnosis , Ciliary Motility DisordersABSTRACT
A boy was admitted on day 3 after birth due to shortness of breath for 2 days and cyanosis for 1 day. He had clinical manifestations of dyspnea in the early postnatal period and situs inversus, and was finally diagnosed with Kartagener syndrome. His condition was improved after oxygen therapy, anti-infective therapy, and aerosol therapy. The genetic testing showed that there was a large-fragment loss of heterozygosity, exon 48_50, and a hemizygous mutation, c.7915C > T(p.R2639X), in the
Subject(s)
Humans , Infant, Newborn , Male , China , Dyspnea , Exons , Kartagener Syndrome/therapy , Situs Inversus/geneticsABSTRACT
INTRODUCTION: Dextrocardia is characterized by the positioning of the heart to the right of the thoracic cavity, usually with the apex oriented to the right and its inverse anatomy 1,2. It is a rare congenital pathology that can be associated with other congenital cardiac anomalies, as well as a change in position of all thoracoabdominal structures 1-4. Its diagnosis in adult life is usually incidental. We present the clinical case of a 64-year-old man with an electrocardiogram that showed deviation of the QRS complex axis to the extreme right and a physical examination compatible with dextrocardia, which was later confirmed with images. OBJECTIVES: To review the medical literature related to the diagnosis of dextrocardia through the presentation of a clinical case. METHODS: The clinical data of the case were collected by means of anamnesis, physical examination and specialized exams of the patient, as well as his clinical file. The literary review was made using the MEDLINE® search engine for scientific journals. RESULTS: Dextrocardia affects less than 1% of the general population according to the studies reviewed. Its importance lies in the association with other congenital pathologies such as cardiac and extracardiac structural malformations, which increases morbidity and mortality in this group of patients. It is imperative, when suspected, complete the study with images that allow confirming or ruling out other structural anomalies.
Subject(s)
Humans , Male , Middle Aged , Dextrocardia/diagnosis , Electrocardiography , Situs Inversus/diagnosis , Congenital Abnormalities , Informed ConsentABSTRACT
Resumen: El situs inversus totalis es la inversión congénita completa de órganos torácicos y abdominales. Se presenta el caso de una paciente de 3 años sin antecedentes médicos previos, a quien en atención primaria, y por un cuadro respiratorio agudo, se evidencia el hallazgo de dextrocardia y burbuja gástrica a derecha en la radiografía de tórax, sospechándose situs inversus totalis. Fue derivada a cardiología infantil donde se confirmó el diagnóstico con un ecocardiograma transtorácico, asociado a un hallazgo de preexcitación ventricular en el electrocardiograma. Una vez resuelto el cuadro respiratorio agudo, la paciente se mantiene controlada de manera periódica en atención primaria y por especialista de manera semestral.
Abstract: Situs inversus totalis is the complete congenital inversion of thoracic and abdominal organs. We present the case of a 3-year-old girl with no previous medical history. When seen with an acute respiratory syndrome, dextrocardia and gastric bubble on the right side led to the diagnosis of Situs inversus. She was referred to infant cardiology where the diagnosis was confirmed with a transthoracic echocardiogram. In addition, the electrocardiogram identified the presence of ventricular preexitation. Once the acute respiratory symptoms subsided, the patient remains controlled periodically in primary care and by a specialist every six months. No episodes of tachycardia have been detected.
Subject(s)
Humans , Female , Child, Preschool , Situs Inversus/complications , Situs Inversus/diagnosis , Pre-Excitation Syndromes/complications , Pre-Excitation Syndromes/diagnosis , Radiography, Thoracic , Dextrocardia/complications , Dextrocardia/diagnosis , ElectrocardiographyABSTRACT
ABSTRACT Situs inversus totalis is a rare recessive autosomal congenital abnormality in which the mediastinal and abdominal organs are in a mirrored position when compared to the usual topography. The literature reports some cases of situs inversus totalis and concomitant conditions: spinal abnormalities, cardiac malformations and hematological diseases, such as idiopathic thrombocytopenic purpura, which is an autoimmune disease that causes thrombocytopenia due to platelet destruction or suppression of its production. This article aimed to report the coexistence of situs inversus totalis and idiopathic thrombocytopenic purpura.
RESUMO Situs inversus totalis é uma anormalidade congênita autossômica recessiva rara em que os órgãos mediastinais e abdominais encontram-se em posição espelhada em relação à topografia habitual. A literatura relata alguns casos de concomitância do situs inversus totalis com outras condições: anomalias espinhais, malformações cardíacas e doenças hematológicas, como púrpura trombocitopênica idiopática, que é uma doença autoimune com plaquetopenia, devido à destruição dos trombócitos ou supressão da sua produção. Esse artigo teve o objetivo de relatar coexistência de situs inversus totalis e púrpura trombocitopênica idiopática.
Subject(s)
Humans , Male , Young Adult , Situs Inversus/complications , Situs Inversus/diagnostic imaging , Purpura, Thrombocytopenic, Idiopathic/complications , Situs Inversus/pathology , Radiography, Panoramic , Tomography, X-Ray ComputedABSTRACT
Dextrocardia with situs inversus is an uncommon anomaly affecting about 1 to 2 per 10,000 in the general population. This report describes an adult male patient with dextrocardia and in a Turkish subject. The photographic illustrations revealed transposition of some of the visceral organs such as the spleen was located right and the liver and gall bladder on the left. The heart was flattened and flipped to the right. Many people with situs inversus totalis are unaware of their unusual anatomy until they seek medical attention for an unrelated condition. So, early detection may lead to a successful surgical management and consequently offer a safer chance of survival. This report showed that dextrocardia and situs inversus can be seen amongst Turkish subjects.
La dextrocardia con situs inversus es una anomalía poco frecuente que afecta aproximadamente de 1 a 2 personas por 10.000 en la población general. Este informe describe un paciente masculino adulto con dextrocardia. Las figuras revelaron que la transposición de algunos de los órganos viscerales, como el bazo, se ubicada a la derecha y el hígado y la vesícula biliar a la izquierda. El corazón fue aplastado y girado hacia la derecha. Muchas personas con situs inversus totalis desconocen su anatomía inusual hasta que buscan atención médica por una afección no relacionada. Por lo tanto, la detección temprana puede llevar a un manejo quirúrgico exitoso y, en consecuencia, ofrecer una posibilidad más segura de supervivencia. Este informe mostró que la dextrocardia y el situs inversus se pueden encontrar entre los sujetos turcos.
Subject(s)
Humans , Male , Aged, 80 and over , Situs Inversus/pathology , Abnormalities, Multiple , Dextrocardia/pathology , Situs Inversus/diagnostic imaging , Dextrocardia/diagnostic imagingABSTRACT
El síndrome de Kartagener es una enfermedad hereditaria autosómica recesiva caracterizada por la asociación de discinesia ciliar primaria y la tríada situs inversus total, sinusitis crónicas y bronquiectasias. Su prevalencia varía en 1/15 000-1/30 000, pero se estima que muchos pacientes con discinesia ciliar primaria no han sido diagnosticados. Su presentación clínica es inespecífica y heterogénea, y no hay una única prueba gold standard para su diagnóstico. Esto, unido a las limitaciones y no disponibilidad de las pruebas, hace que el diagnóstico se retrase. Un diagnóstico y tratamiento adecuados de forma precoz modifican el pronóstico. En los últimos años, las sociedades han publicado algoritmos diagnósticos para pacientes con clínica sugestiva. Por ello, es importante una puesta al día y enfatizar en la necesidad de una sospecha clínica ante las manifestaciones clínicas de esta enfermedad. Se presenta a un recién nacido con este síndrome diagnosticado por estudio genético en un hospital secundario.
Kartagener Syndrome is an inherited autosomal recessive disorder characterized by primary ciliary dyskinesia and the triad of situs inversus viscerum, chronic sinus disease and bronchiectasis. Its prevalence varies from 1/15 000 to 1/30 000 but it is estimated that a lot of patients with primary ciliary dyskinesia have not been diagnosed as such. Its clinical presentation is non-specific and heterogeneous, and there is not a single, gold standard, diagnostic test. The diagnosis is often delayed because of these reasons and limitations and no availability of diagnostic tests. Early diagnosis and treatment change patient's prognosis. In addition, Scientific Societies have published recent diagnostic algorithm to evaluate the patient with suspected primary ciliary dyskinesia. Therefore, it is important to keep up to date with all the latest articles. We present the case of a newborn with this syndrome diagnosed by genetic analysis in a secondary care hospital.
Subject(s)
Humans , Female , Infant, Newborn , Respiratory Distress Syndrome, Newborn , Situs Inversus , Kartagener Syndrome , Ciliary Motility DisordersABSTRACT
Introducción: El síndrome de Kartagener es una variación clínica de la discinesia ciliar primaria, se caracteriza por la triada clásica de sinusitis crónica, bronquiectasia y situs inversus (total o parcial), catalogada como enfermedad rara de herencia autosómica recesiva. Objetivo: Analizar las manifestaciones clínicas, análisis complementarios y tratamiento de los pacientes diagnosticados con síndrome de Kartagener en la República del Ecuador. Presentación de caso: Paciente femenina, de nacionalidad ecuatoriana, con manifestaciones clínicas de la tríada del síndrome de Kartagener y rasgo de infertilidad, con antecedente de sinusitis crónica desde 14 años de edad. Los estudios imagenológicos de rayos X de tórax y tomografía axial computarizada de tórax y senos paranasales confirmaron las manifestaciones de síndrome de Kartagener, que representa el séptimo caso reportado en el país. Se analizaronn las características clínicas de la serie de siete casos reportados en el Ecuador hasta el presente, correspondiente al período 2015-2018 y exámenes complementarios realizados para el diagnóstico de certeza y diferencial. Conclusiones: Se presentó el séptimo caso de síndrome de Kartagener diagnosticado en el Ecuador y se analizó la serie de una totalidad de 7 pacientes reportados en el país entre 2015-2018(AU)
Introduction: Kartagener syndrome is a clinical variation of primary ciliary dyskinesia, characterized by the classic triad of chronic sinusitis, bronchiectasis and situs inversus (total or partial), classified as a rare autosomal recessive inheritance disease. Objective: To analyze the clinical manifestations, complementary tests and treatment of patients diagnosed with Kartagener syndrome in the Republic of Ecuador. Case presentation: Female patient, of Ecuadorian nationality, with clinical manifestations of the Kartagener syndrome triad and infertility trait, with a history of chronic sinusitis since 14 years of age. Imaging studies of thorax, x-rays and computed tomography of chest and paranasal sinuses confirmed the manifestations of Kartagener syndrome, which represents the seventh case reported in the country. Respiratory evolution and therapeutic management are exposed. In this context, we analyze the clinical characteristics of the series of seven cases reported in Ecuador up to the present, corresponding to the period 2015-2018 and complementary tests performed for the certainty and differential diagnosis. Conclusions: The seventh case of Kartagener syndrome diagnosed in Ecuador is presented, and the series of a totality of 7 patients reported in the country between 2015-2018 is analyzed(AU)
Subject(s)
Humans , Male , Female , Sinusitis/diagnosis , Situs Inversus/epidemiology , Tomography, X-Ray Computed/methods , Kartagener Syndrome/epidemiology , Ciliary Motility Disorders/epidemiologyABSTRACT
El objetivo de este estudio es revisar una de las opciones quirúrgicas para el tratamiento de la obesidad en pacientes con situs inversus total. Se presenta el caso de una paciente de 39 años de edad con situs inversus total (diagnóstico transquirúrgico) que fue sometida a gastrectomía en manga laparoscópica, con resultados postquirúrgicos óptimos; además, en la revisión de la literatura encontramos 14 casos publicados a nivel mundial de procedimientos quirúrgicos metabólicos.
The objective of this study is to perform a review of one of the surgicaloptions for the treatment of obesity in patients with total situs inversus. We present the case of a female patient of 39 years of age with total situs inversus (trans-surgical diagnosis) and who underwent a laparoscopic sleeve gastrectomy, with optimal postoperative results, in addition a review of the literature is made, finding 14 cases published to global level of metabolic surgical procedures.
Subject(s)
Humans , Situs Inversus , Laparoscopy , Bariatric SurgeryABSTRACT
The use and application of a laparoscopic cholecystectomy has been regarded as a first-choice treatment option for benign gallbladder disease, even if patients have situs inversus totalis. Furthermore, surgical procedures in general are becoming less invasive, because of both patient and surgeon preferences for reduced trauma and improved cosmetic outcomes attributable to minimized incisions. A 37 years old man was aware of situs inversus totalis with chronic cholecystitis. The operation was successfully performed without any specific complications. Single port laparoscopic cholecystectomy, in an experienced operator, is possible even in patients with situs inversus totalis.
Subject(s)
Humans , Cholecystectomy, Laparoscopic , Cholecystitis , Gallbladder Diseases , Situs InversusABSTRACT
A 58-year-old male patient with situs inversus totalis, a rare congenital malformation characterized by all asymmetric organs being formed as the mirror images of their normal morphologies, underwent mitral valve repair due to mitral valve prolapse. This case was reported to suggest that anesthesiologists should thoroughly understand the anatomy of these types of patients before providing cardiac anesthesia that often requires advanced monitoring and rely on their accurate interpretation. Accordingly, a few key points will be discussed with emphasis on reversing lead placement during electrocardiogram monitoring, using the left internal jugular vein for pulmonary artery catheterization, and firmly comprehending mirror image heart morphology to better conduct transesophageal echocardiography.
Subject(s)
Humans , Male , Middle Aged , Anesthesia , Catheterization, Swan-Ganz , Echocardiography, Transesophageal , Electrocardiography , Heart , Jugular Veins , Mitral Valve , Mitral Valve Prolapse , Situs Inversus , Thoracic SurgeryABSTRACT
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease affecting motile cilia. A female neonate was hospitalized with respiratory distress 72 hours after birth and showed concurrent situs inversus. She was identified to have compound heterozygous mutations in DNAH5: c.5647C>T, p.Arg1883Ter (nonsense mutation) and c.10810dupA, p.Ile3604AsnfsTer2 (frameshift mutation). Sanger sequencing confirmed that they were inherited from her father and mother, respectively, and she was diagnosed with PCD. The c.10810dupA is a novel DNAH5 mutation that has never been reported. To the best of our knowledge, this is the first report describing DNAH5 mutations in a Korean patient with PCD.
Subject(s)
Female , Humans , Infant, Newborn , Cilia , Fathers , Kartagener Syndrome , Mothers , Parturition , Situs InversusABSTRACT
A rare case of left-sided gallbladder (sinistraposition) is reported with review of the literature. Left-sided gallbladder is very unusual, with a frequency of 0.3% of the cases, being generally associated to situs inversus. The aim of this invesigation was to establish the association between left-sided gallbladder and right-sided round ligaments. Left-sided gallbladder is a rare anomaly and has been classified into two situations: 1) gallbladder migration to the left side, and 2) development of a second gallbladder with atrophy of the original one. Left-sided gallbladder were reported to be associated with right-sided round ligaments.
Subject(s)
Female , Middle Aged , Situs Inversus/pathology , Bile Ducts/abnormalities , Laparoscopy , Round Ligament of Liver/pathology , Gallbladder Diseases/surgery , Surgical Instruments , CholangiographyABSTRACT
Situs inversus is a rare hereditary disorder in which various anomalies have been reported with internal rotation abnormalities. This case involved an 85-year-old woman who had been diagnosed with transverse colon cancer and who underwent reduced-port laparoscopic surgery. All intra-abdominal organs were reversed left to right and right to left. The aberrant midcolic artery was identified during surgery. The total surgery time was 170 minutes, and the patient lost 20 mL of blood. The patient was discharged on the 8th postoperative day without complications.
Subject(s)
Aged, 80 and over , Female , Humans , Arteries , Colon, Transverse , Colonic Neoplasms , Laparoscopy , Situs InversusABSTRACT
Situs inversus totalis (SIT) is a rare condition in which the viscera are transposed in a mirror image reversal. We report two cases of laparoscopic cholecystectomy (LC) performed for SIT patients. A 63-year old male patient with SIT was diagnosed with symptomatic gallstones. We performed LC by 3-port method. The patient was discharged uneventfully on postoperative day 2. A 57-year old female patient with SIT underwent LC for acute cholecystitis. Due to severe inflammation an assistant was needed. The patient was discharged uneventfully on postoperative day 3. Over 80 cases of LCs in SIT patients have been reported so far and LC has become the standard treatment. The current report confirms the safety of laparoscopy in such cases. Laparoscopic cholecystectomy can be performed safely in SIT patients if care is taken. Surgeons need to be careful of reversed anatomy and unaccustomed working hand.
Subject(s)
Female , Humans , Male , Cholecystectomy, Laparoscopic , Cholecystitis, Acute , Gallstones , Hand , Inflammation , Laparoscopy , Methods , Situs Inversus , Surgeons , VisceraABSTRACT
El situs inversus totalis (SIT) es una rara anomalía congénita en la cual las estructuras de la cavidad toracoabdominal se encuentran en una posición completamente opuesta a la usual. Hasta la fecha, se han informado casos de situs inversus concomitantes con diversas neoplasias intraabdominales, pero existen muy pocos relacionados con adenocarcinoma colorrectal. A pesar de esto, el adenocarcinoma colorrectal es una neoplasia frecuente del tracto gastrointestinal con una elevada tasa de morbimortalidad, dado que su detección en la mayoría de los casos se da en etapas tardías. Se presenta el caso de una mujer de 70 años de edad que asiste a control por seguimiento oncológico de neoplasia de sigmoides asociada a situs inversus totalis. Se resaltan los hallazgos imaginológicos y su valor en la estadificación y seguimiento, así como las consideraciones anatómicas posteriores al tratamiento clínico-quirúrgico.
Situs inversus totalis (SIT) is a rare congenital anomaly in which the thoracoabdominal inner organs are placed in a completely opposite position to the usual. Up to date, there have been reported cases of situs inversus totalis concomitant with different intraabdominal neoplasms, but there are only few cases related with colorectal adenocarcinoma. Besides this, colorectal carcinoma is a frequent gastrointestinal neoplasm with a high morbimortality rate due to its detection in advanced stages. We report a case of a 70-year-old woman in oncologic following up with sigmoid adenocarcinoma and situs inversus totalis. We highlight imaging findings and their value in staging and monitoring, as well as anatomic consideration after clinical and/or surgical treatment.