Rol de la laparoscopia en el manejo del síndrome OHVIRA: reporte de un caso y su relación con la endometriosis / Role of laparoscopy in the management of OHVIRA syndrome: a case report and its relation to endometriosis

El síndrome de hemivagina obstruida y anomalía renal ipsilateral (OHVIRA) es producido por una alteración en el desarrollo de los conductos de Müller y Wolff en la vida fetal. El síndrome es poco frecuente, se reporta una prevalencia de 1/2.000 a 1/28.000 casos. La endometriosis se presenta en un 19% de los casos complicando esta patología. El tratamiento del síndrome OHVIRA consiste en resecar el tabique vaginal drenando el hematocolpos. Hasta el momento no existe un consenso en recomendar la realización de una laparoscopia diagnóstica. El objetivo de este estudio es reportar la eventual importancia de la laparoscopia diagnóstica/terapéutica como parte del manejo del síndrome OHVIRA.

Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is caused by a defect in the development of Müllerian and Wolffian ducts at fetal life. The syndrome is uncommon, with a reported prevalence of 1/2,000 to 1/28,000 cases. Endometriosis is present in 19% of cases complicating this pathology. Treatment of OHVIRA syndrome consists in resecting the vaginal septum and draining the hematocolpos. Until now there isnt an agreement on recommending diagnostic laparoscopy as part of the treatment. The aim of this study is to report the importance of diagnostic/therapeutic laparoscopy in the management of OHVIRA syndrome.

Anestesia total intravenosa libre de opioides en un paciente con síndrome de Joubert: caso clínico / Opioid free total intravenous anesthesia in Joubert syndrome: Case report

Joubert syndrome (JS) is a rare autosomal recessive disorder characterized by abnormal eye movements, respiratory pattern abnormalities, anatomical airway alterations, mental retardation and hypoplasia/aplasia of the cerebellar vermis confirmed by magnetic resonance imaging. This case report describes the successful management of a patient with JS operated of cholesteatoma under 100% opioid-free total intravenous general anaesthesia. We also provide a brief review of JS, its anaesthetic implications and opioid-free anaesthesia (OFA) technique.

El síndrome de Joubert (SJ) es una enfermedad autosómica recesiva poco frecuente caracterizada por trastornos oculares, respiratorios, alteraciones anatómicas de la vía aérea, retraso mental e hipoplasia/aplasia del vermis cerebeloso constatada mediante resonancia magnética. Presentamos un caso exitoso de paciente con SJ operado de colesteatoma bajo anestesia general endovenosa total 100% libre de opioides. Asimismo, realizamos una breve revisión del SJ, sus implicaciones anestésicas y de la técnica de anestesia libre de opioides.

Rare association between atrioventricular septal defect and partial anomalous pulmonary venous connection

Abstract Clinical data: Infant, 7 months, female, referred to our department at one month of age, suspecting of congenital heart disease for further investigation. Chest radiography: Demonstrates cardiomegaly and prominent pulmonary vascular markings. Electrocardiography: Shows right ventricular hypertrophy and left anterior fascicular block. Echocardiography: Evidenced common atrioventricular valve with two orifices and the left superior pulmonary vein draining on the brachiocephalic vein. Computed tomography angiography: This complementary imaging exam was performed to confirm the diagnosis. Diagnosis: The patient presented an association between AVSD and PAPVC, a rare combination. The clinical picture of heart failure was preponderant, characterized by need for diuretics and complementary exams findings, and early surgical treatment was indicated. Operation: The operation was performed through a median sternotomy with 123 minutes of cardiopulmonary bypass and 89 minutes of cross-clamping time. The patient had no postoperative complications, remaining 10 days hospitalized.

Perfil epidemiológico da criança e do adolescente com fissura oral atendidos em um centro de referência em Curitiba, PR, Brasil / Epidemiological profile of children and adolescents with oral cleft treated at a referral center in Curitiba, PR, Brazil

INTRODUÇÃO: A fissura oral é a segunda maior causa de anomalias congênitas e representa a principal alteração craniofacial em nascidos vivos. O objetivo do presente estudo foi determinar os dados epidemiológicos do Centro de Atenção Integral ao Fissurado Labiopalatal, no período entre janeiro de 2011 e dezembro de 2014. MÉTODOS: Estudo retrospectivo utilizando prontuários clínicos. Foram avaliados 1262 prontuários de pacientes portadores de fissura oral. Após aplicação dos critérios de inclusão e exclusão, 52,7% prontuários foram incluídos no estudo. RESULTADOS: Entre os 666 prontuários, 57,4% foram do gênero masculino e 42,6% do feminino. Verificou-se que 34,8% dos pacientes apresentaram fissuras transforame, 27,2% fissuras pré-forame, 25,8% fissuras pós-forame e 12,2% outros tipos de fissuras. Pacientes oriundos de Curitiba e Região Metropolitana correspondem a 36,6%, aqueles do Interior do Paraná abrangem 61% dos atendimentos no Centro de Atenção. As medianas de idade na primeira consulta, entre os pacientes de Curitiba e Região Metropolitana e do Interior do Paraná, são de 1 mês e 2 meses, respectivamente. E a primeira cirurgia, realizada no Centro de Atenção, foi em torno de 6 meses, nos pacientes de Curitiba e Região Metropolitana, e de 7 meses naqueles oriundos do Interior do Paraná. CONCLUSÃO: Verificou-se predomínio de fissuras em meninos e maior frequência da fissura pós-forame incompleta. Observou-se que, apesar da distância, as crianças oriundas do Interior do Paraná realizaram a cirurgia de correção e chegaram ao centro de referência com apenas um mês de diferença em relação aquelas da cidade sede do Centro de Atenção Integral ao Fissurado Labiopalatal.

INTRODUCTION: Oral cleft is the second major cause of congenital anomalies and represents a major craniofacial alteration in live births. The objective of this study was to analyze the epidemiological data collected from the Center for Comprehensive Care to Individuals with Cleft Lip and Palate in the period from January 2011 to December 2014. METHODS: This retrospective study evaluated 1,262 medical records of patients with an oral cleft. After applying the inclusion and exclusion criteria, 52.7% of the medical records were included in the study. RESULTS: Among the 666 medical records, 57.4% were of male patients and 42.6% were of female patients. Of these, 34.8% of the patients had a trans-foramen cleft, 27.2% had a pre-foramen cleft, 25.8% had a post-foramen cleft, and 12.2% had another type of cleft. Patients from Curitiba and the metropolitan region constituted 36.6% of the cases, and patients from rural areas of Paraná represented 61% of the visits to the care center. The median age at the first visit of the patients from Curitiba/metropolitan region and rural areas of Paraná was 1 and 2 months, respectively. The first surgery was performed at the care center at the age of 6 months in patients from Curitiba and metropolitan region and 7 months in patients from rural areas of Paraná. CONCLUSION: There was a predominance of boys and a higher prevalence of incomplete post-foramen clefts in the total population. Despite the long distance to the care center, children from rural areas of Paraná underwent the correction surgery and were treated at the referral center with an age difference of only 1 month compared with patients who lived in Curitiba, where the care center is located.

Síndrome de McKittrick-Wheelock: una causa infrecuente de hipokalemia e injuria renal aguda. Caso clínico / McKrittick-Wheelock syndrome: report of one case

McKittrick-Wheelock syndrome is caused by chronic water and electrolyte hypersecretion from an intestinal tumor, usually a villous adenoma, located in the rectum or sigmoid. Patients often have dehydration, hypovolemic shock and kidney failure associated with hypokalemia, hyponatremia, hypochloremia and metabolic acidosis. We report a 62-year-old male, suffering chronic diarrhea for eight years who was admitted after a syncope. He had severe hypokalemia, hyponatremia, metabolic acidosis, hypovolemia and acute renal failure. After his metabolic disorders were corrected, a colonoscopy showed a large rectosigmoid tumor with the characteristics of a villous adenoma. During the follow up after the complete tumor resection, the patient has remained asymptomatic.

Duplicación rectal extrofiada asociada a malformación anorrectal y transposición pene-escrotal con hipospadias perineal: Reporte de un caso clínico / Exstrophy of rectal duplication associated with anorectal malformation and penoscrotal transposition with perineal hypospadias: A case report

Se presenta el caso de un paciente masculino quien requirió tratamiento por agenesia anorrectal con fístula rectouretral y transposición pene-escrotal con hipospadias perineal, acompañados de una masa perineal. La tumoración perineal se encontró íntimamente adherida y en continuidad al recto, lo que la hace compatible con una duplicación rectal extrofiada. La reconstrucción quirúrgica de la anomalía se realizó en etapas hasta lograr resultados funcionales y estéticos aceptables.

We present the case of a male patient who required treaatment due to anorectal agenesis with recto urethral fistula and penoscrotal transposition with perineal hypospadias, associated with a perineal tumor. The perineal tumor was found strongly adhered and contiguous to the rectum which makes it compatible with an exstrophy of rectal duplication. Surgical reconstruction of the birth defect was performed in stages until acceptable biological function and esthetic results were obtained.

Acesso sagital transretal anterior (ASTRA) para vaginoplastia após complicação de anoretoplastia sagital posterior / Anterior sagittal transrectal approach (ASTRA) for vaginoplasty after complications of posterior sagittal anorectoplasty

A exposição transperineal de altas vaginas é limitada. Essas limitações podem ser contornadas usando ASTRA (anterior sagital transrectal approach). Relatamos o uso desta estratégia cirúrgica para o tratamento de um caso de atresia vaginal adquirida, após anorretoplastia posterior, em caso de malformação anorretal.

Transperineal exposure of the high portion of the vagina is limited. These limitations can be circumvented using ASTRA (anterior sagittal transrectal approach). We report the use of this surgical strategy for the treatment of a case of acquired vaginal atresia after posterior anorectoplasty due to anorectal malformation.

Nasopalpebral lipoma coloboma syndrome.

Nasopalpebral lipoma–coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on histopathological examination. This condition should be included in differential diagnosis of conditions with congenital eyelid coloboma.

Escobar syndrome in three male patients of same family.

We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made in 1902 from this same place (Pondicherry) and the disease received its present popular name Escobar syndrome in 1982. The genetic defect for this condition was identified in 2006 as mutation in the fetal acetylcholine receptor.

Síndrome de Sotos y escoliosis: tratamiento quirúrgico y seguimiento a los 10 años / Sotos syndrome and scoliosis: surgical treatment: a 10-year follow-up

Introducción: El síndrome de Sotos es causado por una deleción genética de transmisión autosómica dominante. La hipotonía, la hiperlaxitud y el gigantismo cerebral son características de este síndrome. Materiales y métodos: Fueron evaluados retrospectivamente 42 pacientes con diagnóstico de síndrome de Sotos tratados en el Hospital Garrahan en el período comprendido entre 1988 y marzo de 2009. Se revisaron las historias clínicas y los estudios por imágenes. Resultados: Ocho pacientes (19 por ciento) presentaron escoliosis y 7 de ellos requirieron cirugía (87 por ciento). El promedio de seguimiento fue de 9,5 años (rango 3 a 18 años). La edad promedio en la primera consulta fue de 5,2 años (rango 1,2 a 11,2). El valor angular medio en la primera consulta fue de 34,3° (rango 20° a 42°). La media de edad en el momento de la cirugía fue de l 1,2 años (rango 3 a 18,10). Los procedimientos quirúrgicos realizados fueron artrodesis posterior instrumentada sola o combinada con artrodesis anterior, artrodesis anterior instrumentada y, en un paciente actualmente, distracción sucesiva. El VAM preoperatorio fue de 72,3° (rango 46° a 130°) y el VAM posoperatorio, de 45,5° (rango 6° a 90°). Hubo 3 complicaciones inmediatas (derrame pleural en 2 casos y 1 sepsis con óbito) y 2 tardías (cifosis supraartrodesis y salida de los ganchos proximales). Conclusiones: La incidencia de escoliosis en los pacientes con síndrome de Sotos es alta en comparación con la registrada en la población general. Es importante realizar el seguimiento de los pacientes durante su crecimiento para efectuar el diagnóstico temprano. En el momento de la instrumentación se deben considerar la laxitud y la hipotonía, y evitar las fusiones cortas.

Multiple vascular anomalies in the abdomen: a gross anatomical study / Múltiples anomalías vasculares en el abdomen: un estudio anatómico macroscópico

Knowledge of the branching pattern of the abdominal aorta is clinically important for any abdominal surgeon operating on parts of the gut or neighboring structures like the suprarenals, spleen, pancreas, liver, kidneys and ureter. The presence of abnormal inferior phrenic artery associated with aberrant branch from the celiac trunk supplying the pancreas and duodenum is a rare anomaly. In the present case, we observed four branches of the celiac artery i.e. (a) left gastric artery (b) common hepatic artery (c) splenic artery and (d) an aberrant branch, which took a course inferiorly towards the pancreas. The aberrant artery supplied the body of the pancreas and gave a branch which supplied the horizontal part of the duodenum and then entered the transverse mesocolon to supply the hepatic flexure and some portions of the ascending and the transverse colon. The inferior phrenic artery was absent on the left side. Concomitant anomalies of such type are to be kept in mind by the surgeon, while operating cases of carcinoma head of pancreas and performing kidney transplantations.

El conocimiento del patrón de ramificación de la aorta abdominal es clínicamente importante para cualquier cirujano abdominal que opere en partes del intestino o estructuras vecinas, como glándulas suprarenales, bazo, páncreas, hígado, riñones y uréteres. La presencia anormal de la arteria frénica inferior asociada con una rama aberrante originada del tronco celiaco, supliendo el páncreas y duodeno, es una variación anatómica rara. En el presente caso, se observaron cuatro ramas de la arteria celiaca: (a) arteria gástrica izquierda (b) arteria hepática común (c) arteria esplénica y (d) una rama aberrante, que tuvo un curso inferior hacia el páncreas. La arteria aberrante suministraba irrigación al cuerpo del páncreas y daba una rama para la parte horizontal del duodeno para luego entrar en el mesocolon transverso para irrigar la flexura hepática y algunas partes del colon ascendente y transverso. La arteria frénica inferior estaba ausente en el lado izquierdo. Anomalías concomitantes de este tipo deben ser consideradas por el cirujano, en casos de operación de carcinoma de cabeza de páncreas y la realización de trasplante renal.

Successful separation of thoracopagus conjoined twins with a single extra-hepatic biliary system.

A pair of thoracopagus conjoined twins were separated at the age of 3 months at Khon Kaen Regional Hospital, Thailand on November 19, 2004. Pre-operative investigations showed separate hearts, joined duodenum, and fusion of the livers. Separation of the extra-hepatic biliary systems was suspected. Operative findings revealed fusion of the intestines from the second part of the duodenum to the terminal ileum with two normal colons. An intussusception was found at the terminal ileum. Fusion of the livers with only one extra-hepatic biliary system was noted In one of the twins, the gastrointestinal tract was anastomosed with Roux-en- Y enteric loop to one area of good bile drainage at the cut surface of liver Post operative course was hectic but both twins recovered satisfactorily. Both are doing well at present, two years after the separation. This was the first reported case of thoracopagus conjoined twins with complex biliary tract anomalies in Thailand. From the literature, pre-operative investigations in most cases of these conjoined twins failed to define the precise anatomy of the biliary system and may be misleading as in the presented case. The mortality rate remains high. Meticulous pre-operative planning, decision-making in the operative field and postoperative management as well as a multidisciplinary team are very important for a successful separation.

Malrotation of the intestine and preduodenal portal vein associated with abdominal situs inversus: a case report

Abdominal situs inversus is a rare condition usually associated with malformations of asymmetric organs such as the heart, liver, spleen and malrotation of the intestines. A case of abdominal situs inversus with intestinal malrotation and preduodenal portal vein is reported. Patient underwent prophylactic Ladd's procedure and preduodenal portal vein was left undisturbed during surgery. This case highlights the importance of rigorous investigation of anatomic features prior to surgery in a patient with heterotaxia. The authors advocate radiological investigation of patients with heterotaxia and prophylactic Ladd's procedure in those with intestinal malrotation.

Unilateral renal agenesia associated with partial epididymis and vas deferens agenesia in a patient with abdominal testicle

This study considers a unilateral renal agenesia associated with agenesia of the epididymis body and tail and the vas deferens and non-palpable left testicle in a 20-month-year-old patient. During laparoscopic procedure, the testicle was positioned at approximately 5 cm above the inguinal ring. The size was appropriate for the age and the head of the epididymis was situated in its normal position. The decision was made to perform the first step of the Fowler-Stephens’ surgery and the patient presented a good evolution. The association of male duct system agenesia with unilateral renal agenesia in a patient with cryptorchidism diagnosed by laparoscopy is an extremely rare event, however generally in these cases the testicle is of normal size, presents unaltered hormonal function, and must be preserved.