Description and early clinical outcome of patients with omphalocele admitted to a tertiary hospital in Kigali, Rwanda over a three-year period ­ a cross-sectional study

BACKGROUND: Studies suggest that patients with omphalocele have poor outcomes which are associated with the high rate of associated congenital abnormalities. A variety of surgical management techniques have been described, with some requiring equipment not available in resource-limited countries. OBJECTIVES: This study aimed to describe associated abnormalities, management and early hospital outcomes of patients with omphalocele.METHODS: A retrospective study of newborns diagnosed with omphalocele hospitalized from January 2014 to December 2016 at a tertiary level facility, the University Hospital of Kigali (CHUK) in Kigali, Rwanda. Case-file review of included newborns and analysis of the data collected was performed with SPSS version 16.0. RESULTS: Thirty-one patients were hospitalized with omphalocele during the three-year study period. A limited number of investigations were done to diagnose possible associated congenital abnormalities. Three patients (9.7%) were found to have cardiac abnormalities, nine (27.0%) had suspected genetic abnormalities including Trisomy 13, 18 and Beckwith Wiedemann Syndrome. In terms of management, ten patients (32.3%) underwent primary closure. Sixteen patients (51.6%) developed sepsis during hospitalization. Of the thirty-one patients hospitalized, nine (27.0%) died in the hospital. The only factor found to be associated with increased mortality was the size of the omphalocele, with small omphaloceles associated with lower mortality than large omphaloceles (OR 0.909, P-value 0.028).CONCLUSION: Mortality of these patients is significant and slightly higher in patients with larger omphalocele. Newborns with omphalocele should receive appropriate investigations to diagnose associated congenital abnormalities and have early recognition and prompt management of complications, especially sepsis. The results are limited by the small sample size and limited investigations performed to detect associated abnormalities

Hernia de Littre estrangulada en un adulto / Littre strangulated hernia in an adult

Se describe el caso clínico de un adulto de 47 años de edad, quien acudió al cuerpo de guardia del Hospital Provincial Docente Clinicoquirúrgico Saturnino Lora Torres de Santiago de Cuba por presentar, desde hacía 3 días, dolor en epigastrio, de comienzo insidioso, que desapareció en las últimas 24 horas, y apareció nuevamente en la fosa ilíaca derecha y mesogastrio, pero esta vez se trasformó en fijo, punzante, de moderada intensidad, que no se aliviaba con analgésicos, y asociado a náuseas; igualmente, refirió y se corroboró al examen físico la presencia de una hernia umbilical que no lograba reducirse. El paciente fue operado y se encontró una hernia de Littre umbilical estrangulada. Se le realizó resección y anastomosis del íleon a nivel del divertículo de Meckel, así como herniorrafia umbilical. La evolución fue favorable y egresó sin complicaciones

The case report of a 47 years adult is described who went to the emergency room of Saturnino Lora Torres Teaching Clinical Surgical Provincial Hospital in Santiago de Cuba due to epigastric distress of insidious beginning for 3 days that disappeared in the last 24 hours, appearing again in the right iliac cavity and mesogastrium, but this time it was transformed in a fixed, sharp, of moderate intensity pain that was not relieved with analgesics, and associated with nausea; equally, he referred the presence of an umbilical hernia that was not able to decrease and it was corroborated in the physical exam. The patient was operated on and a strangulated umbilical Littre hernia was found. A resection and anastomosis of ilium at the Meckel diverticulum level was carried out, as well as umbilical hernia repair. There was a favorable clinical course and he was discharged without complications

Reparación endoscopica de diastasis derecto y defectos de la línea media / Endoscopic approach of rectus diastasis and abdominal midline defects

La Diástasis de los rectos (DR) consiste en la separación existente entre los músculos recto anterior del abdomen, no es considerado un defecto herniario sino una alteración de la línea alba. Se la relaciona con edad, la multiparidad, el aumento de peso y clínicamente se manifiesta con un abombamiento en la línea media y suele acompañar a otros defectos dela línea media (hernia umbilical y epigástrica). Reportamos el caso de una paciente de 40 años de edad portadora de Diastasis de los rectos de 4 cm que fue sometida a reparación por abordaje endoscópico supraaponeurótico y con refuerzo protésico.

Rectus diastasis (RD) consists of the separation between the rectus abdominis anterior muscles, it is not considered a hernia defect but an alteration of the alba line. It is associated with age, multiparity, weight gain and clinically manifests with a bulging of the midline and usually accompanies other midline defects (umbilical and epigastric hernia). We report the case of a 40-year-old female patient with a 4 cm rectus diastasis who underwent repair by supraaponeurotic endoscopic approach and with prosthetic reinforcement.

Pentalogía de Cantrell: presentación de un caso clínico / Pentalogy of Cantrell: clinical case

La pentalogía de Cantrell es una enfermedad poco frecuente que resulta de alteraciones embriológicas del mesodermo, caracterizada por defecto en la porción baja esternal, defecto de la pared abdominal supraumbilical, defecto diafragmático anterior, defecto del pericardio diafragmático y anomalía cardiaca. Caso clínico: Se presenta el caso de un neonato de sexo masculino con diagnóstico prenatal de defecto de la pared abdominal, en quien posteriormente se realizó el diagnóstico de Pentalogía de Cantrell. Al presentar este caso se destaca la posibilidad diagnóstica en la vida fetal, y el pobre pronóstico de estos pacientes cuando su presentación clínica se asocia a hipoplasia pulmonar severa.

Pentalogy of Cantrell is a rare disease that results from alterations in embryo development. It is characterized by defects of the lower sternum, midline supraumbilical abdominal wall defect, deficiency of the anterior diaphragm, defects in the diaphragmatic pericardium and cardiac anomaly. Case Report: The case of a male neonate with a prenatal diagnosis of abdominal wall defect is presented, who was subsequently diagnosed with Pentalogy of Cantrell. This study emphasizes the prenatal diagnosis possibilities and the poor prognosis for these patients when their clinical presentation is associated with severe lung hypoplasia.

Hernia umbilical eviscerada en pacientes cirróticos: reporte de un caso / Eviscerated umbilical hernia in cirrhotic patients: case report

La evisceración espontánea de las hernias umbilicales en pacientes con cirrosis hepática y ascitis es una complicación rara y potencialmente fatal que ocurre en menos de un 2% de los pacientes con esta patología. Se presenta un caso de un paciente masculino de 58 años de edad conocido con el diagnóstico de cirrosis hepática por alcohol, Child B, con síndrome de hipertensión portal, que consultó por dolor abdominal tipo cólico difuso y salida espontánea de líquido ascítico de color amarillo, no fétido, a través de hernia umbilical, de gran tamaño, con erosiones en su superficie. El citoquímico del líquido ascítico fue compatible con peritonitis bacteriana secundaria. Se manejó conjuntamente con cirugía, de forma conservadora con antibioticoterapia parenteral. Al cuarto día se apreció salida del epiplón a través del saco herniario. Se realizó herniorrafia umbilical sin complicaciones, evolucionando satisfactoriamente. Desde el primer caso reportado en 1901, son pocos los casos registrados en la literatura. Los factores precipitantes descritos son traumatismos y aumento de presión intra-abdominal. El manejo de la hernia umbilical en el paciente cirrótico es controversial, cuando se desarrollan complicaciones como la evisceración, la conducta quirúrgica es urgente

Spontaneous evisceration of umbilical hernias in patients with cirrhosis and ascites is a rare and potentially fatal complication that occurs in less than 2% of patients. We report a case of a 58-year old male patient with Child B alcoholic liver cirrhosis,with portal hypertension, who presented with diffuse crampy abdominal pain and spontaneous leaking of yellow not foul ascitic fluid through a large umbilical hernia with superficial tiny erosions. Cytochemical ascitic fluid analysis was consistent with secondary bacterial peritonitis. Patient was managed conservatively with parenteral antibiotics in conjunction with surgery. On fourth day, the omentum was seen through the hernia sac and surgical repair was performed without complications and the patient did well in the postoperative period. Since the first case reported in 1901, there had been few cases reported in the literature. Trauma and increased intra-abdominal pressure are among the precipitants reported. Management of umbilical hernia in cirrhotic patients is controversial, however when they develop complications, surgical treatment become urgent

Hernie ombilicale de l'enfant : aspects epidemiologiques; cliniques et therapeutiques au complexe pediatrique de Bangui (RCA)

Les objectifs de ce travail sont de decrire les aspects epidemiologiques; cliniques et therapeutiques de la hernie ombilicale. A cet effet; une etude retrospective a ete conduite de juin 2005 a juin 2010 sur 93 cas de hernie ombilicale. Celle-ci representait 12 de toutes les interventions chirurgicales; 33;7 des hernies de l'enfant et 5;2 des cas d'hospitalisation. La population etait masculine avec un sex-ratio de 2;2. L'age moyen etait de 2;3 ans avec des extremes d'un mois et 15 ans. La tranche d'age la plus touchee etait celle des enfants de moins d'un an. Les malades se plaignaient dans 51;3 de douleurs abdominales. L'etranglement etait la complication la plus representee avec 22;6 de cas. 11 engouements etaient observes soit 11;8. Les hernies ombilicales dont le diametre etait superieur a 2 cm etaient les plus representees (57). Le paludisme et la typhoide etaient les principales pathologies associees. La hernie ombilicale; pathologie frequente en pratique pediatrique africaine; a ete rapportee dans la litterature comme nous; et le sexe masculin semble etre un facteur de risque. C'est une affection non douloureuse en general et notre fort taux de douleur pourrait etre lie aux formes compliquees ou pathologies medicales associees. Le traitement chirurgical etait notre seul mode de traitement. Les etranglements herniaires; les engouements et les hernies ombilicales simples persistantes etaient systematiquement operes. Les dernieres categories devraient desormais faire l'objet d'un examen approfondi car une hernie ombilicale simple; souvent associee a une douleur ou autres signes peut cacher une pathologie medicale ou chirurgicale

Programa de Triagem Neonatal para hipotireoidismo congênito de Santa Catarina, Brasil: avaliação etiológica no primeiro atendimento / Newborn Screening Program for congenital hypothyroidism of the State of Santa Catarina, Brazil: etiological investigation in the first visit

OBJETIVO: Avaliar a etiologia, no primeiro atendimento, dos casos de hipotireoidismo congênito primário (HCP) identificados pelo Programa de Triagem Neonatal de Santa Catarina entre julho de 2007 e junho de 2009. SUJEITOS E MÉTODOS: Estudo prospectivo com 45 pacientes com HCP confirmado. Para o diagnóstico etiológico, eram realizados na primeira consulta: anamnese, exames físico e complementares (TSH, tiroxina livre, tireoglobulina, idade óssea, ultrassonografia de tireoide). RESULTADOS: Estabeleceu-se o diagnóstico etiológico na primeira consulta em 53,33%. Disgenesia representou 51,11%, sendo 20% hipoplasia, 13,3% atireose e 17,7% ectopia; e 2,2% foram diagnosticados com disormoniogênese. Hérnia umbilical foi o sinal mais prevalente (48,89%) e 20% não apresentaram manifestação clínica. Aqueles com disgenesia apresentaram diferença significativa (p < 0,05) pela via de parto cesária, idade óssea atrasada e TSH sérico muito elevado. CONCLUSÕES: A abordagem diagnóstica realizada no primeiro atendimento determina a etiologia do HCP em 53,3% dos casos. A metade dos pacientes apresenta disgenesia tireoidiana. Arq Bras Endocrinol Metab. 2012;56(9):627-32.

OBJECTIVE: To evaluate the etiology of primary congenital hypothyroidism (PCH) identified in the Newborn Screening Program from the state of Santa Catarina, Brazil, from July 2007 to June 2009 in the first visit. SUBJECTS AND METHODS: A prospective study was performed in 45 patients with PCH. For the etiological diagnosis, history, physical examination, and additional tests (TSH, free thyroxine, thyroglobulin, bone age assessment, thyroid ultrasound) were carried out in the first visit. RESULTS: The etiology was established in the first visit in 53.3% of cases. Thyroid dysgenesis represented 51.11% of the cases, from which 20% showed hypoplastic thyroid, 13.3% showed athyreosis, and 17.7% showed ectopic glands; 2.2% were diagnosed with dyshormonogenesis. Umbilical hernia was the most prevalent sign (48.89%) and 20% had no clinical manifestations. Patients with dysgenesis showed significant differences (p < 0.05) in terms of cesarean section delivery, delayed bone age, and very high serum TSH. CONCLUSIONS: The diagnostic approach used at first visit for PCH patients may determine the etiology in 53.3% of cases. Half of patients had thyroid dysgenesis. Arq Bras Endocrinol Metab. 2012;56(9):627-32.

Post- infantile presentation of intestinal malrotation

To study intestinal malrotation presenting after the age of one year, analyze the spectrum of presentations and to predict risk of volvulus. Retrospective study. Zagazig University Hospitals [Egypt] and King Fahd Hospital, Saudi Arabia. All cases [54] of malrotation during April 2006 to April 2010. Analysis of clinical, radiological and operative data. Presentation, significant associations and risk of volvulus. The mean age was 4.8 +/- 2.13 years. Presentations included acute volvulus [n = 27, 50%], chronic volvulus [4, 7.5%], mesocolic hernia [4, 7.5%], intussusception [5, 9%], exomphalos [5, 9%] and non-specific presentation [9, 17%]. Associated anomalies were found in 19 cases [35%] with significant association of chronic volvulus and exomphalos. Typical anatomical malrotation was seen in 21 [39%] cases with significant risk of volvulus [odds ratio 9.2]. Nausea and vomiting, abdominal colic, and malnutrition were dominant in acute and chronic volvulus, mesocolic hernia and intussusception [p < 0.05]. Malnutrition and gastroesophageal reflux disease [GERD] were significantly associated with chronic volvulus [p < 0.05]. Duodenal obstruction was significantly evident in acute volvulus while high cecum was dominant in intussusception. Prolonged ileus and persistent symptoms were significant in chronic volvulus and mesocolic hernia [p < 0.05], while wound infection and short bowel syndrome were significant in acute volvulus. Malrotation in the post-infantile period has a wide spectrum and non-specific presentation. Risk of midgut volvulus is present, especially in typical cases, and trials must be done to predict the risk and avoid unnecessary surgery

Diagnóstico prenatal en el primer trimestre: onfalocele fetal / First trimester prenatal diagnosis: fetal omphalocele

Dada la importancia de conocer la existencia de la hernia umbilical fisiológica, para establecer un diagnóstico diferencial con un onfalocele, se describen los criterios establecidos para diferenciarlos, y se reportan dos casos vinculados a ésta problemática.

Congenital hernia of the cord.

Several embryopathies involve umbilicus including midgut herniation, omphaloceles, urachal and vascular anomalies. Although described earlier, hernia into umbilical cord has not found enough mention in the literature. Poor understanding of its clinical characteristics has made to miscategorization of this entity as "omphalocele minor" by many. Some of these undergo spontaneous reduction or epithelialisation if left alone. The present study describes a series of four consecutive cases of this entity and describe their clinical characteristics, associated GI anomalies and possible embryogenesis.

Onfalocele / Omphalocele

Defecto de la pared abdominal de tamaño variable, en el que las vísceras herniadas están cubiertas por una membrana compuesta por peritoneo en la superficie externa, amnios en la interna, y gelatina de Wharton entre ambas. Se realiza una revisión sobre su epidemiología y diagnóstico a propósito de un caso clínico diagnosticado a las 15 semanas de gestación. Luego de una cesárea a las 39 semanas, se realizó una operación a los siete días de vida, que presentó muy buena evolución.

Hipotireoidismo congênito: perfil clínico dos recém-nascidos identificados pelo Programa de Triagem Neonatal de Minas Gerais / Congenital hypothyroidism: the clinical profile of affected newborns identified by the Newborn Screening Program of the State of Minas Gerais, Brazil

OBJETIVO: Avaliar o perfil clínico de recém-nascidos com hipotireoidismo congênito identificados pelo Programa Estadual de Triagem Neonatal de Minas Gerais entre 2000 e 2006. MÉTODOS: A frequência das manifestações clínicas de hipotireoidismo congênito foi analisada em relação aos níveis de hormônio estimulante da tireoide T4L (determinados por quimioluminescência, valores de referência de 0,3 a 5,0 µUI/mL e 0,8 a 1,8 ng/dL, respectivamente) e idades ao diagnóstico e tratamento. Estudou-se 443 crianças, sendo 55,8 por cento do sexo feminino e 95 por cento delas com menos 60 dias de vida. RESULTADOS: Os sinais clínicos mais prevalentes foram: hérnia umbilical (51 por cento), fontanela anterior ampla (50,3 por cento) e fontanela posterior aberta (47,2 por cento). Hipotonia, macroglossia e sucção débil foram os sinais mais associados com a gravidade bioquímica da doença. Em 32,1 por cento das crianças houve atraso na idade óssea ao diagnóstico. As medianas de TSH e T4L séricos foram 120 µUI/mL e 0,62 ng/dL, respectivamente. A mediana da idade de início de tratamento foi de 28 dias. CONCLUSÃO: Existem sinais clínicos precoces que sugerem o diagnóstico de hipotireoidismo congênito. Portanto, diante de uma criança com esses sinais, devem ser avaliados TSH e T4L séricos para confirmar ou excluir a doença, independentemente do resultado do teste de triagem. A idade de início de tratamento ainda foi elevada, mas o programa vem adotando estratégias para redução da mesma.

OBJECTIVE: To evaluate the clinical profile of newborns with congenital hypothyroidism identified by the Newborn Screening Program of the State of Minas Gerais, Brazil, between 2000 and 2006. METHODS: Analysis of factors involved in this profile, including: TSH and FT4 levels (determined by chemiluminescence, with limits of normality set at 0.3-5.0 µUI/mL and 0.8-1.8 ng/dL, respectively), age at diagnosis and age at treatment. The study sample consisted of 443 children, 55.8 percent were female and 95 percent were seen before completing 60 days of life. RESULTS: The most prevalent clinical signals were: umbilical hernia (51 percent), enlarged anterior fontanel (50.3 percent), and open posterior fontanel (47.2 percent). Hypotonia, macroglossia and feeding difficulties were the clinical signs most frequently associated with the biochemical severity of the disease. A delay in bone age was present in 32.1 percent of the children at diagnosis. The median of serum TSH and FT4 was 120 µUI/mL and 0.62 ng/dL, respectively. The median age at start of treatment was 28 days. CONCLUSION: There are some early clinical signs that suggest a diagnosis of congenital hypothyroidism. Therefore, when presented with a child exhibiting these signs, serum TSH and FT4 should be assayed in order to confirm or rule out the disease, irrespective of the result of screening. Age at start of treatment remains high, but strategies are being implemented to reduce it.

Giant Ovarian Tumor Presenting as an Incarcerated Umbilical Hernia: A Case Report

We report a rare case of a giant ovarian tumor presenting as an incarcerated umbilical hernia. A 61-yr-old woman was admitted to the hospital with severe abdominal pain, an umbilical mass, nausea and vomiting. On examination, a large, irreducible umbilical hernia was found. The woman underwent an urgent operation for a possible strangulated hernia. A large, multilocular tumor was found. The tumor was excised, and a total abdominal hysterectomy and bilateral salphingo-oophorectomy were performed. The woman was discharged 6 days after her admission. This is the first report of incarcerated umbilical hernia containing a giant ovarian tumor within the sac.

Cierre diferido en onfalocele no roto: reporte de un caso / Close deferred not broken in omphalocele: a case report

El término onfalocele fue definido por Benson en 1949 y se atribuye a Paré su descripción inicial en la primera mitad del siglo XVI. Se trata de una herniación de las vísceras abdominales que están cubiertas por un saco formado por peritoneo, membrana amniótica y gelatina de Warthon y que se continúa con el cordón umbilical. (1) Esta herniación es consecuencia de una alteración en la formación de la pared abdominal anterior del embrión. El defecto se sitúa soempre en la región umbilical y puede ser de tamaño variable, considerándose un onfalocele gigante cuando el defecto supera los 10 cm. Generalmente contiene asas de intestino delgado, y en los de mayor tamaño, el hígado. (2) La presencia de otras malformaciones asociadas no es rara y puede condicionar el pronóstico del recién nacido. El 25 por ciento presentan una cardiopatía congénita, siendo más frecuente la tetralogía de Fallot. La frecuencia de esta entidad varía de unas regiones a otras y oscila entre 1/6.000 hasta 1/60.000 de los recién nacidos vivos, incluyendo los casos de gastrosquitis. Puede diagnosticarse mediante las ecografías prenatales a partir del cuarto mes, y en un futuro serán subsidiarias de corregirse mediante cirugía fetal. (3) Existe controversia en relación a la necesidad de una cesárea programada para el nacimiento. La cesárea previene la lesión de las vísceras herniadas, pero el parto vaginal logra una mayor madurez del feto. En general los niños afectados de onfaloceles grandes deben nacer mediante cesárea electiva, pero los que presentan onfaloceles pequeños pueden nacer mediante parto vaginal. Con independencia de la decisión adoptada es importante que los neonatólogos y cirujanos pediátricos estén alertados del nacimiento para realizar una adecuada valoración del recién nacido lo antes posible. El tratamiento tiene por misión reintroducir las vísceras en la cavidad abdominal restaurando la integridad de la misma antes de que se produzca la contaminación del contenido herniario.

Omphalocele: various treatment modalities and their outcome: a study of 53 cases at the department of paediatric surgery B .V. hospital, Bahawalpur

To evaluate the out come of the different treatment modalities for omphalocele. Descriptive. At the department of paediatric surgery Bahawal Victoria hospital Bahawalpur from January 2004 to August 2007. Fifty three patients have been studied, 33 patients with a major defect, 20 patients with a minor defect and male to female ratio of 1:3. All the patients with minor defect were managed with primary closure while same was done in only 4 [12.12%] patients with major defect. Rest of the patients with major defect, 11 [33.33%], were managed conservatively followed by delayed primary closure, silo formation was done in 6 [18.18%] patients and ventral hernia was formed in 5 [15.15%] patients. 100% survival rate was found in patients who were managed conservatively with delayed primary closure. Overall mortality was found in 12 [22.6%] patients. Primary closure is the treatment of choice in exomphalos minor. Delayed primary closure after application of escharating agent is the Management of choice in patients with exomphalos major. Silo formation is considered in exomphalos major with ruptured membrane

Look twice before your clamp: decapitation of an omphaloenteric duct. A case report

To report a case of accidental decapitation of a persistent omphaloenteric duct [POD] in congenital hernia of the umbilical cord in a newborn male. The newborn was transferred to an intensive care unit, where under closer inspection the diagnosis of an omphalocele was presumed. Surgical exploration at our Pediatric Surgical University Clinic revealed a clamped and decapitated POD in the umbilical cord. The decapitation had gone unnoticed due to severe asphyxia resulting from meconium aspiration encountered at the time of delivery. Using general anesthesia, the clamp was removed under sterile conditions. The decapitation of the POD in the herniated umbilical cord was confirmed at this time. The severed intestine was sutured and closed using 5-0 Vicryl sutures. The further course was uneventful. Herniation of the umbilical cord at the time of birth by intestinal loops or POD is rare, but caution should be taken by midwives before clamping in order to avoid the type of injury seen in this case

Diagnóstico pré-natal da pentalogia de Cantrell pelo ultra-som bidimensional e tridimensional: relato de caso / Prenatal diagnosis of pentalogy of Cantrell using two-dimensional and three-dimensional ultrasound: a case report

A pentalogia de Cantrell é uma anomalia congênita rara caracterizada por defeito de fechamento da parede abdominal supra-umbilical, defeito na porção inferior do esterno, defeito na porção an-terior do diafragma, defeito no pericárdio diafragmático e defeitos intracardíacos. Pode estar associada a outras anomalias, determinando variantes desta síndrome. O diagnóstico ultra-sonográfico pré-natal é de extrema importância para a detecção das malformações estruturais e para o planejamento cirúrgico pós-natal. Apresentamos um caso de pentalogia de Cantrell diagnosticado na 149 semana de gestação, destacando os achados à ultra-sonografia bidimensional e a importância da ultra-sonografia tridimensional na avaliação das malformações e na melhor compreen-são da doença pelos genitores.

Perforated appendicitis within paraumbilical hernia

The appendix is not uncommonly encountered within an external hernial sac. However, acute appendicitis in hernia is quite rare. We report a female patient who was admitted and operated as a case of incarcerated, strangulated paraumbilical hernia and the hemial sac was found to contain part of the greater omentum, pus and acutely inflamed, gangrenous appendix, perforated at the tip. Appendicectomy and hernial repair were carried out through the same incision