Left Amyand's hernia associated with omphalocele. / Hernia de Amyand izquierda asociada a onfalocele.

INTRODUCTION: Amyand's hernia is defined as the presence of the cecal appendix inside the hernia sac. It is usually located on the right side, but left-sided cases due to intestinal malrotation have also been reported. CASE PRESENTATION: 3-month-old male infant diagnosed with omphalocele at the 12th week of gestation undergoing surgery 48 hours post-birth. Bilateral inguinal hernia was diagnosed during follow-up, so scheduled bilateral herniotomy was performed. During surgery, the cecal appendix was identified inside the left herniary sac, so prophylactic appendectomy was carried out. CONCLUSIONS: The incidence of Amyand's hernia ranges from 0.4 to 1% - three times higher in pediatric patients. Left-sided hernias are often associated with intestinal rotation disorders. Treatment of right Amyand's hernia is described in Losanoff-Basson's classification. In left-sided hernias, prophylactic appendectomy is recommended to avoid diagnostic confusion in case of appendicitis.

INTRODUCCION: La hernia de Amyand consiste en la presencia del apéndice cecal en el saco herniario, generalmente en localización derecha, aunque se recogen casos de localización izquierda debido a malrotación intestinal. EXPOSICION DEL CASO: Lactante varón de 3 meses de edad, con onfalocele diagnosticado en la 12ª semana de gestación e intervenido a las 48 horas del nacimiento. Durante el seguimiento se diagnostica de hernia inguinal bilateral, realizando herniotomía bilateral programada. En la intervención se encuentra el apéndice cecal en el saco herniario izquierdo, procediendo a una apendicectomía profiláctica. COMENTARIOS: La incidencia de la hernia de Amyand es del 0,4-1% (3 veces más frecuente en población pediátrica). La localización izquierda suele asociarse a alteraciones en la rotación intestinal. El tratamiento de las hernias de Amyand derechas se recoge en la clasificación de Losanoff-Basson. En las izquierdas, se recomienda realizar apendicectomía profiláctica para evitar confusiones diagnósticas en caso de apendicitis.

Hernia de Amyand izquierda asociada a onfalocele / Left amyand's hernia associated with omphalocele

INTRODUCCIÓN: La hernia de Amyand consiste en la presencia del apéndice cecal en el saco herniario, generalmente en localización derecha, aunque se recogen casos de localización izquierda debido a malrotación intestinal. EXPOSICIÓN DEL CASO: Lactante varón de 3 meses de edad, con onfalocele diagnosticado en la 12ª semana de gestación e intervenido a las 48 horas del nacimiento. Durante el seguimiento se diagnostica de hernia inguinal bilateral, realizando herniotomía bilateral programada. En la intervención se encuentra el apéndice cecal en el saco herniario izquierdo, procediendo a una apendicectomía profiláctica. COMENTARIOS: La incidencia de la hernia de Amyand es del 0,4-1% (3 veces más frecuente en población pediátrica). La localización izquierda suele asociarse a alteraciones en la rotación intestinal. El tratamiento de las hernias de Amyand derechas se recoge en la clasificación de Losanoff-Basson. En las izquierdas, se recomienda realizar apendicectomía profiláctica para evitar confusiones diagnósticas en caso de apendicitis

INTRODUCTION: Amyand's hernia is defined as the presence of the cecal appendix inside the hernia sac. It is usually located on the right side, but left-sided cases due to intestinal malrotation have also been reported. CASE PRESENTATION: 3-month-old male infant diagnosed with omphalocele at the 12th week of gestation undergoing surgery 48 hours post-birth. Bilateral inguinal hernia was diagnosed during follow-up, so scheduled bilateral herniotomy was performed. During surgery, the cecal appendix was identified inside the left herniary sac, so prophylactic appendectomy was carried out. CONCLUSIONS: The incidence of Amyand's hernia ranges from 0.4 to 1% - three times higher in pediatric patients. Left-sided hernias are often associated with intestinal rotation disorders. Treatment of right Amyand's hernia is described in Losanoff-Basson's classification. In left-sided hernias, prophylactic appendectomy is recommended to avoid diagnostic confusion in case of appendicitis

Patología testicular en la edad pediátrica: criptorquidia, escroto agudo y varicocele / Testicular pathology in the pediatric age: cryptorchidism, acute scrotum and varicocele

La patología testicular supone una parte principal del día a día del cirujano pediátrico. tanto por su frecuencia como por su morbilidad es muy importante prestar la debida atención a la patología, tanto malformativa como adquirida (aguda y crónica), del testículo en el niño. la criptorquidia o ausencia de teste en el escroto es la malformación genitourinaria más frecuente. Se trata de una malformación asintomática de cuyo adecuado manejo y corrección precoz va a depender el pronóstico del teste, así como el riesgo de malignización en la edad adulta. la torsión testicular es un evento agudo que consiste en el giro sobre sí mismo del órgano, comprimiendo el pedículo y comprometiendo el aporte sanguíneo al teste, que si se mantiene en el tiempo conduce a una necrosis testicular. el pronto reconocimiento de este cuadro dentro del síndrome de escroto agudo será vital para conseguir corregir la torsión e impedir la pérdida de la gónada. El varicocele se define como una dilatación varicosa de las venas del plexo pampiniforme a nivel del cordón espermático. puede ser asintomático o generar molestias. Su efecto sobre la fertilidad no está completamente esclarecido y las indicaciones quirúrgicas, al igual que la técnica idónea son asuntos sujetos a controversia. en el presente texto se repasan los conceptos referentes a estos temas, actualizando las recomendaciones de diagnóstico y manejo

Testicular pathology occupies the main part of the day to day work of the pediatric surgeon. Both because of its frequency as well as its morbidity, it is very important to pay attention to the malformative and acquired (acute and chronic) pathology of the testis in the boy. Cryptorchidism or absence of the testis in the scrotum is the most frequent genitourinary malformation. this is an asymptomatic malformation whose adequate management and early correction will depend on the prognosis of the testis and the risk of malignization in the adult age. testicular torsion is an acute event that consists in the twisting of the organ on itself, with compression of the testicular pedicle, affecting the blood supply to the testis. if this is maintained over time, it leads to a testicular necrosis. early recognition of this picture within the acute scrotum syndrome will be vital to be able to correct the torsion and prevent loss of the gonad. Varicocele is defined as a varicose dilation of the pampiniform plexus on the level of the spermatic cord. it can be asymptomatic or generate discomfort. Its effect on fertility has not been completely clarified and the surgical indications and the best treatment are matters subject to controversy. in the present text, the concepts regarding these subjects are reviewed, updating the recommendations for diagnosis and management

Neumoperitoneo masivo en un recién nacido con ventilación mecánica, en ausencia aparente de barotrauma / Massive pneumoperitoneum in a newborn with mechanical ventilation in apparent absence of barotrauma

El neumoperitoneo suele ser secundario a la perforación del tubo digestivo. En ocasiones lo es a un barotrauma, en especial en recién nacidos sometidos a ventilación mecánica, que causa rotura pulmonar y paso de aire desde la vía aérea al peritoneo a través del mediastino. Menos probable parece que el neumoperitoneo se produzca en un paciente con ventilación mecánica, en ausencia de un barotrauma demostrable y de una perforación intestinal. Presentamos una paciente pretérmino que al tercer día de vida, mientras está sometida a ventilación mecánica, presenta neumoperitoneo masivo en ausencia aparente de barotrauma. Tras realizar el drenaje de la cavidad peritoneal, el neumoperitoneo desaparece en dos días, sin necesidad de laparotomía. La evolución posterior es favorable

Pneumoperitoneum is usually secondary to perforation of gastrointestinal tract. Sometimes it is a barotrauma, especially in newborn infants undergoing mechanical ventilation, causing lung rupture and passage of air from airway into the peritoneum through the mediastinum. It seems less likely that the pneumoperitoneum occurs in a patient undergoing mechanical ventilation, in the absence of a demonstrable barotrauma and a bowel perforation. We present a preterm patient who, on her third day of life, while being subjected to mechanical ventilation, reports a massive pneumoperitoneum with the apparent absence of barotrauma. After the drainage of the peritoneal cavity, the pneumoperitoneum disappears in two days, without laparotomy. The subsequent evolution is favourable

[Massive pneumoperitoneum in a newborn with mechanical ventilation in apparent absence of barotrauma]. / Neumoperitoneo masivo en un recién nacido con ventilación mecánica, en ausencia aparente de barotrauma.

Pneumoperitoneum is usually secondary to perforation of gastrointestinal tract. Sometimes it is a barotrauma, especially in newborn infants undergoing mechanical ventilation, causing lung rupture and passage of air from airway into the peritoneum through the mediastinum. It seems less likely that the pneumoperitoneum occurs in a patient undergoing mechanical ventilation, in the absence of a demonstrable barotrauma and a bowel perforation. We present a preterm patient who, on her third day of life, while being subjected to mechanical ventilation, reports a massive pneumoperitoneum with the apparent absence of barotrauma. After the drainage of the peritoneal cavity, the pneumoperitoneum disappears in two days, without laparotomy. The subsequent evolution is favourable.

Mortalidad en pacientes con osteólisis de origen linfático. Revisión de 54 casos / Mortality in patients with osteolysis of lymphatic origin: a review of the experience with 54 patients and the literature

Introducción: La osteólisis de origen linfático es una enfermedad poco frecuente cuya alta mortalidad es difícil atribuir al propio cuadro o a la iatrogenia que genera su tratamiento. El objetivo del trabajo es revisar las causas de la mortalidad en nuestros pacientes y en la literatura médica en la osteólisis de origen linfático. Pacientes y métodos: Hemos revisado a todos los pacientes con osteólisis de origen linfático tratados en nuestro departamento y que han fallecido en los últimos 15 años, así como todos los casos publicados de defunción con esta enfermedad desde los años cincuenta. Resultados: De los 57 pacientes con osteólisis de origen linfático tratados en nuestro hospital, 3 han fallecido, 2 por infección y uno por distrés respiratorio agudo. Todos presentaban desnutrición y 2 de ellos quilotórax bilateral. Entre las 51 muertes revisadas de la literatura entre los años 1954 y 2010, 19 tenían quilotórax bilateral, 15 derecho, y sólo 2 tenían afectación exclusivamente izquierda. Once tuvieron complicaciones respiratorias en forma de neumonía y distrés, 10 presentaron fracturas patológicas y otros 10 quilopericardio y/o ascitis quilosa. La causa más común de defunción fue el fallo respiratorio en 25 pacientes, seguida de la neumonía y la sepsis. Las publicaciones no especifican la causa última de la insuficiencia respiratoria. Conclusiones: El paciente con osteólisis de origen linfático grave suele presentarse con 3 cuadros que se solapan: la malformación linfática de partes blandas, la reabsorción ósea y el quilotórax. Mientras que la mortalidad de los 2 primeros es excepcional, la del quilotórax es frecuente, sobre todo cuando es bilateral y no responde al tratamiento. El fallo respiratorio y la infección están agravados por la inmunosupresión, la desnutrición y el emplazamiento prolongado de catéteres centrales. A diferencia del fallo respiratorio, difícil de controlar tras el fracaso del tratamiento médico-quirúrgico, la morbimortalidad causada por las infecciones puede disminuirse mediante un adecuado soporte nutricional, una correcta profilaxis antibiótica y la reducción al mínimo indispensable de los accesos venosos y de la nutrición parenteral total (AU)

Introduction: Osteolysis of lymphatic origin is a rare disease with a high mortality which is difficult to attribute whether it is due to the disease itself or the therapeutic morbidity. The aim of this study is to review the causes of mortality in our group of patients with osteolysis of lymphatic origin, compared with the group of patients previously reported in the medical literature. Patients and methods: We reviewed all patients with osteolysis of lymphatic origin and treated in our department who had died in the last 15 years, and we reviewed all published cases of death with this disease since the 1950's.ResultsA total of 57 patients with osteolysis of lymphatic origin had been studied at our institution, of whom three died, two from sepsis, and one from acute respiratory distress syndrome. All of them suffered severe malnutrition from massive lymphatic loss and 2 had bilateral chylothorax. Among the 51 cases reviewed in the literature between 1954 - 2010, 19 had bilateral chylothorax, 15 had right side involvement and only 2 had an exclusive left chylothorax. Eleven patients had complications, such as respiratory distress and pneumonia. Ten of them suffered from pathological fractures, and 10 from chylopericardium and/or chylous ascites. The most common cause of death was respiratory failure in 25 patients, followed by pneumonia and sepsis. The publications do not specify the ultimate cause of respiratory failure. Conclusions: Patients with severe osteolysis of lymphatic origin suffer three main disorders with overlapping comorbidity: the lymphatic malformation of soft tissue, the bone resorption and the chylothorax. While mortality in the first two is exceptional, the mortality of the chylothorax is common, especially when it is bilateral and does not respond to different therapies. Respiratory failure and infection are aggravated by immunosuppression, malnutrition and the non-restrictive use of central catheters. Unlike respiratory failure, which is difficult to control after the failure of medical and surgical treatment, morbidity from infections can be reduced through careful nutritional support, rational antibiotic prophylaxis and a reduction to a minimum in the use of central catheters and total parenteral nutrition (AU)

[Mortality in patients with osteolysis of lymphatic origin: a review of the experience with 54 patients and the literature]. / Mortalidad en pacientes con osteólisis de origen linfático. Revisión de 54 casos.

INTRODUCTION: Osteolysis of lymphatic origin is a rare disease with a high mortality which is difficult to attribute whether it is due to the disease itself or the therapeutic morbidity. The aim of this study is to review the causes of mortality in our group of patients with osteolysis of lymphatic origin, compared with the group of patients previously reported in the medical literature. PATIENTS AND METHODS: We reviewed all patients with osteolysis of lymphatic origin and treated in our department who had died in the last 15 years, and we reviewed all published cases of death with this disease since the 1950's. RESULTS: A total of 57 patients with osteolysis of lymphatic origin had been studied at our institution, of whom three died, two from sepsis, and one from acute respiratory distress syndrome. All of them suffered severe malnutrition from massive lymphatic loss and 2 had bilateral chylothorax. Among the 51 cases reviewed in the literature between 1954 - 2010, 19 had bilateral chylothorax, 15 had right side involvement and only 2 had an exclusive left chylothorax. Eleven patients had complications, such as respiratory distress and pneumonia. Ten of them suffered from pathological fractures, and 10 from chylopericardium and/or chylous ascites. The most common cause of death was respiratory failure in 25 patients, followed by pneumonia and sepsis. The publications do not specify the ultimate cause of respiratory failure. CONCLUSIONS: Patients with severe osteolysis of lymphatic origin suffer three main disorders with overlapping comorbidity: the lymphatic malformation of soft tissue, the bone resorption and the chylothorax. While mortality in the first two is exceptional, the mortality of the chylothorax is common, especially when it is bilateral and does not respond to different therapies. Respiratory failure and infection are aggravated by immunosuppression, malnutrition and the non-restrictive use of central catheters. Unlike respiratory failure, which is difficult to control after the failure of medical and surgical treatment, morbidity from infections can be reduced through careful nutritional support, rational antibiotic prophylaxis and a reduction to a minimum in the use of central catheters and total parenteral nutrition.

[Gastroesophageal reflux disease. Evaluation and indication for surgical treatment by esophageal phmetry]. / Enfermedad por reflujo gastroesofágico, Valoración e indicación de tratamiento quirúrgico mediante pHmetría esofágica.

INTRODUCTION: Oesophageal pH monitoring is considered the best procedure to assess the severity of gastroesophageal reflux disease (GERD), conditioning its treatment. The indication for surgery is becoming less common. We intend to meet this test to what extent it has influenced. MATERIAL AND METHODS: We recruit patients treated in our Centre since the introduction of pH monitoring. We compare the number of times before and after its use. We value clinical manifestations, usual pH metric values versus non-operated patients with pathological test, associated pathology. SAMPLE: 91 patients, 151 pH metric studies (98 preoperative). Number of interventions prior to introduction of pH monitoring: 20/year, post: 3.79/year. SYMPTOMS: gastrointestinal 60.2%, respiratory 10.2%, mixed 24.5%. 495 non-operated patients, 692 pathological studies. PH metric values operated/not operated: No. reflux 116.91 +/- 125.46/101.69 +/- 83.39 (p < 0.001), No. reflux >5 minutes 8.49 +/- 8.28/4.43 +/- 4.85 (p = 0.001), longest reflux 60.21 +/- 95.93/31.16 +/- 80.09 (p < 0.001), clearance 1.27 +/- 1.44/0.86 +/- 1.05 (p = 0.04), DeMeester 52.74 +/- 56.21/29.49 +/- 23.57 (p < 0.001). 14 of 98 preoperative pH monitoring were normal. Associated pathology operated/not operated: 13.26%/ 7.47%. CONCLUSIONS: The pH metric control of patients with GERD and the progress of medical treatment have led to a decrease in surgical procedures. In our experience, the intensity of GERD is a valuable parameter in deciding on the surgery. We attach particular value parameters measuring oesophageal clearance and indices that integrate several of them. However, in some patients without pathological pH monitoring, we have indicated the operation. The prevalence of associated pathology in the operated makes us value them more demanding.

Pseudoquiste pancreático sobre páncreas ectópico mediastínico / Pancreatic pseudocyst on ectopic mediastinal pancreas

El pseudoquiste pancreático (PQP) sobre tejido pancreático ectópico en el mediastino es una lesión extremadamente rara. Se presenta un caso de esta patología (..) (AU)

Pancreatic pseudocyst on ectopic pancreatic tissue in the mediastinum is a very rare disease. We report a case of this disease which is operated by our Department. This (..) (AU)

Testículo no palpable: laparoscopia o inguinotomía / Nonpalpable testes: laparoscopy for inguinotomy

Introducción. El testículo no palpable hace referencia a la imposibilidad de objetivar el teste mediante maniobras exploratorias. Estos pacientes se han beneficiado del abordaje laparoscópico ya que anteriormente podían requerir incluso una laparotomía. El tratamiento definitivo del teste no palpable depende de los hallazgos laparoscópicos, estando en controversial a resolución en uno o en dos tiempos. El objetivo de este estudio es valorarla incidencia y los resultados tras la aplicación de la laparoscopia para el tratamiento del teste no palpable en nuestro Servicio. Pacientes y métodos. Se recogen los casos de testículo no palpable entre 2000-2009. Se analizan la edad de intervención, la lateralidad, los hallazgos operatorios, el tratamiento realizado y el tamaño de los (..) (AU)

Introduction. The nonpalpable testis refers to the inability to make objective the teste through exploratory maneuvers. These patients have benefited from the laparoscopic approach that previously they could require even a laparotomy. Definitive treatment of nonpalpable testis depends on the laparoscopic findings, being in dispute their resolution in one or two stages. The aim of this (..) (AU)

Enfermedad por reflujo gastroesofágico. Valoración e indicación de tratamiento quirúrgicomediante pHmetría esofágica / Gastroesophageal reflux disease. Evaluation and indication for surgical treatment by esophageal phmetry

Introducción. La pHmetría esofágica es considerada el mejor procedimiento para valorar la intensidad del reflujo gastroesofágico (RGE),condicionando su tratamiento. La indicación quirúrgica es cada vez menos frecuente. Nos proponemos conocer en qué medida esta prueba ha influido en ello. Material y métodos. Reclutamos los pacientes intervenidos en nuestro Centro desde la introducción de la pHmetría. Comparamos número de intervenciones antes y después de su utilización. Valoramos manifestaciones clínicas, valores pHmétricos habituales frente a no intervenidos patológicos, patología asociada. Resultados. Muestra: 91 pacientes, 151 estudios pHmétricos (98prequirúrgicos). Número de intervenciones previas a introducción de pHmetría: 20/año, posteriores: 3,79/año. Sintomatología: digestiva (..) (AU)

Introduction. Oesophageal pH monitoring is considered the best procedure to assess the severity of gastroesophageal reflux disease(GERD), conditioning its treatment. The indication for surgery is be comingless common. We intend to meet this test to what extent it has influenced. Material and methods. We recruit patients treated in our Centre since the introduction of pH monitoring. We compare the number oftimes before and after its use. We value clinical manifestations, usual (..) (AU)

[Nonpalpable testes: laparoscopy for inguinotomy]. / Testículo no palpable: laparoscopia o inguinotomía.

INTRODUCTION: The nonpalpable testis refers to the inability to make objective the teste through exploratory maneuvers. These patients have benefited from the laparoscopic approach that previously they could require even a laparotomy. Definitive treatment of nonpalpable testis depends on the laparoscopic findings, being in dispute their resolution in one or two stages. The aim of this study is to assess the incidence and the results after the application of laparoscopy for the treatment of nonpalpable testis in our department. PATIENTS AND METHODS: All the cases of nonpalpable testis between 2000-2009 are selected. The age of intervention, laterality, operative findings, treatment performed and the size of the testes in cases operated in two stages are analized. RESULTS: Fifty-eight children are reviewed with a total of 60 testis. Thirty-one cases are left (53.4%), 25 are rights (43.1%) and 2 are bilateral (3.5%). In 32 children the testis is absent or atrophic, in 10 the Fowler-Stephens technique is developed, 8 gonads are next to the internal inguinal ring, 5 are in the inguinal canal and 2 is so high and so hipoplasic that orchiectomy is decided. Of those operated in 2 stages, 9 testes survive after the first time and 7 of them have a normal size 6 months after the second surgery. CONCLUSIONS: Laparoscopy is an effective method for diagnosis and treatment of non palpable testis, however, there is still no consensus, for certain locations, to descend the testicle in 1 or 2 stages and if the way is by laparoscopy or inguinotomy.

Cierre quirúrgico del conducto arterioso en el pretérmino extremo o muy extremo / Surgical closure of ductus arteriosus in the extreme or very extreme preterm infant

Objetivos. El cierre quirúrgico del conducto arterioso en pretérminos extremos o muy extremos presenta dificultades, tanto por su anestesia e intervención como por las circunstancias clínicas que suelen acompañarle. Revisamos nuestra experiencia con el objeto de conocerlos factores que más han contribuido a los resultados obtenidos. Métodos. En todos los pacientes revisados, valoramos: edad gestacional; peso al nacimiento; tratamiento farmacológico; cierre quirúrgico; incidencia de displasia broncopulmonar, insuficiencia renal y enterocolitis necrosante; tiempo de ingreso; mortalidad y sus causas. Resultados. Constituyen la muestra 26 prematuros de edad gestacional media de 26,24 semanas y peso medio de 885 g. Se trataron con Indometacina 22, a una edad media de 7 días y mediante ligadura (..) (AU)

Objectives. The surgical close of patent ductus arteriosus in the extreme or very extreme premature presents difficulties, because of its anaesthesia, surgical intervention and the clinical circumstances that usually accompany this pathology. We reviewed our experience in order to understand the factors that have contributed to the obtained results. Methods. In all the reviewed patients we evalue: gestational age, birth weight, drug treatment, surgical close, incidence of broncho pulmonary dysplasia, necrotizing enterocolitis and renal failure, time of (..) (AU)

La ecografía fetal en el segundo trimestre: interés para el cirujano pediatra / The fetal ultrasonography in the second quarter: Interest for the pediatric surgeon

Introducción. El cirujano pediatra debe conocer los detalles del diagnóstico ecográfico prenatal para participar en el asesoramiento a los padres a efectos de continuar o no el embarazo, y planificar el tratamiento pre y postnatal. Los objetivos de nuestro estudio son: conocer la incidencia de las malformaciones congénitas detectadas con la ecografía del2º trimestre, cuántos de estos diagnósticos se confirman al nacimiento y cuál es la utilidad de esta prueba a la hora de informar a los padres. Pacientes y métodos. Se revisan los informes ecográficos prenatales del 2º trimestre realizados entre enero de 2005 y julio de 2009,recogiendo los hallazgos ecográficos y la edad materna y gestacional. A continuación, se anotan la evolución de las alteraciones de los fetos y el número de abortos espontáneos y voluntarios. Por último, se comprueba el diagnóstico en (..) (AU)

Introduction. The paediatric surgeon should know the details of prenatal ultrasound diagnosis to participate in advising parents about the continuation of the pregnancy, and to plan the prenatal and postnatal treatment. Our objectives are: to determine the incidence of congenital anomalies detected with ultrasound in the 2 nd trimester, the number of these diagnoses which is confirmed at birth and what is the usefulness of this test when advising parents. Patients and methods. We reviewed the prenatal ultrasound in 2ndtrimester reports made from January 2005 to July 2009. We note the ultrasound findings, the maternal and gestational age. The evolution of anomalies of the fetuses and the number of spontaneous and volunteers abortions are noted. Finally, the diagnoses are checked in the newborns. Results. 10,256 ultrasonographies are made in this period. 209 stories of pregnant women (2%), which present fetal pathology amenable (..) (AU)

[Familial adenomatous polyposis: a follow-up of the extracolonic manifestations]. / Poliposis adenomatosa familiar: seguimiento de las manifestaciones extracolónicas.

INTRODUCTION: Total colectomy is the only effective treatment for prophylaxis against colon cancer in patients with familial adenomatous polyposis (FAP). We present our experience with 4 children colectomized for FAP, with a particular focus on the long-term surveillance to detect extracolonic manifestations. PATIENTS AND METHODS: We review the clinical histories of 4 patients from 10 to 16-years-old, with family histories of FAP. Performed for each patient were: genetic testing, colonoscopy, double contrast enema, gastro-oesophageal duodenoscopy, thyroid and abdominal ultrasound, fundus oculi, and tumour markers (CEA, CA 19.9). They underwent total colectomy with ileoanal anastomosis and anorectal mucosectomy with an ileal J-pouch. During follow-up, they were monitored regularly with imaging techniques (including a video capsule in one patient) and endoscopy. Also evaluated were faecal continence, food intake, and height-weight development. RESULTS: All had multiple polyps in the colon, and mutation of the APC gene. Hypertrophy of the retinal pigment epithelium was observed in three. Immediately postoperative, there were abundant diarrhoeic stools, two presented an episode of "pouchitis", and one moderate undernourishment. One patient had an intraperitoneal haemorrhage that was resolved by blood transfusion. All 4 have normal faecal continence. During the first months postoperative, two patients showed considerable weight loss. In the follow-up (> 3 years), moderate undernourishment was observed in one patient. Duodenal polyps were found in two patients--in one by duodenoscopy, and in the other with the video capsule. CONCLUSIONS: After colectomy, FAP patients may develop extracolonic clinical manifestations, some of which may be malignant such as thyroid and periampullary cancer. Careful surveillance of these patients is therefore very important, with annual checks using gastroduodenoscopy and thyroid and abdominal ultrasound.

[Anorectal manometry in the neonatal diagnosis of Hirschsprung's disease]. / La manometría anorrectal en el diagnóstico neonatal de la enfermedad de Hirschsprung.

OBJECTIVE: To determine the usefulness of anorectal manometry (AM) in neonatal screening for Hirschsprung's disease (HD). MATERIAL AND METHODS: We review the anomanometric studies of 98 newborn (63 males and 35 females) with clinical suspicion of HD, noting the indications of AM, gestational age, weight, age in days at the test, and whether or not other diagnostic methods were performed. Studied at rest were the pressures (mmHg) in the rectal ampulla (RA), proximal anal canal (PAC), and distal anal canal (DAC), and, in the stimulation phase, the presence or absence of a recto-anal inhibitory reflex (RAIR). In patients with no RAIR, the study was repeated weekly until the end of the first month, and if there was still no RAIR a suction rectal biopsy (SRB) was performed. In these patients and those with signs of intestinal obstruction, a contrast enema was carried out. RESULTS: The indications of AM are: delayed meconium passage, abdominal distension, and/or vomiting in 61.5% of the patients, intestinal obstruction in 16%, constipation in 15.1%, and other causes in 7.4%. The mean gestational age was 35.59 +/- 4.59 weeks, and the weight 2518 +/- 912.91 g. The mean age at the first test was 15.08 +/- 11.33 days. A RAIR was observed at the first study in 65 patients (healthy 54, meconium plug 2, meconium ileus 2, intestinal neuronal dysplasia 1, false negative 1, and other diagnoses 6), and was absent in 27 (HD 20, small left colon syndrome 4, hypoganglionism 1, and false positives 2). In 6 patients the first study was considered invalid. Histological studies confirmed HD in 21 newborn, in 11 of whom the contrast enema showed a transition zone. There were no differences between healthy and HD newborn in the RA, PAC, or DAC resting pressures. The sensitivity of AM for the diagnosis of HD was 95% and its specificity 90.24%. The sensitivity and specificity of rectal biopsy were 100%. The sensitivity of contrast enema was 52.3%, and its specificity 78.6%. CONCLUSIONS: AM is a simple and safe method with high sensitivity and specificity for the neonatal diagnosis of HD. We consider it indicated prior to SRB in every newborn with clinical suspicion of this disease.

[Digestive malformations and their associations to syndrome condition and genetic defects]. / Malformaciones digestivas y su asociación a patología sindrómica y defectos genéticos.

INTRODUCTION: The incidence of disease syndromes and genetic defects in patients with malformations is much higher than in the general population. We reviewed our experience in infants with gastrointestinal malformations to know the incidence of genetic defects and syndromic presentation, for purposes of carrying out the most complete assessment and treatment. MATERIAL AND METHODS: We recruited 161 patients with one or more malformations or congenital gastrointestinal pathology. We evaluated: type of malformation (isolated or syndromic), association with polimalformative complex, genetic testing and its results. RESULTS: The main diagnosis, from highest to lowest incidence, is intestinal malrotation (17.18%), Hirschsprung's disease (13.64%), Meckel's diverticulum (13.14%), oesophageal atresia (12.13%), anorectal malformation (11.12%), diaphragmatic hernia (6.57%), duodenal atresia (5.56%), small bowel atresia (4.55%), omphalocele (4.04), and other (12.07%). In 45.3% the malformation is not isolated. 27.4% appear as syndrome, 4.1% as development defect and 2.7% as association. Genetic study was performed in 30.43%, detecting defects in 36.7% of the studies. Down syndrome (n = 8) is the most frequent. DISCUSSION AND CONCLUSIONS: Our experience with these patients is similar to that provided in the literature. We consider that it is important to identify any associated anomalies, especially heart disease, craniofacial anomalies and other gastrointestinal malformations, because they condition the patient's management. Pathologies that are often associated with other defects require more effort for their detection. The knowledge of these patients is essential for correct treatment.

[Esophageal atresia in the Goldenhar syndrome]. / Atresia de esófago en el síndrome de Goldenhar.

Among the multiple congenital defects associated to esophagueal atresia, the characteristic ones of the Goldenhar syndrome usually are not included. The high incidence has been reported, about 5% of esophagueal atresia in patients with Goldenhar syndrome. Our experience includes two patients with this association who presented anesthetic problems and surgical complications associated with gastroesophageal reflux and esophageal anastomosis.

Poliposis adenomatosa familiar: seguimiento de las manifestaciones extracolónicas / Familial adenomatous polyposis: a follow-up of the extracolonic manifestations

Introducción. La colectomía total es el único tratamiento eficaz para prevenir el cáncer de colon en pacientes con Poliposis Adenomatosa Familiar (PAF). El objetivo es exponer nuestra experiencia con 4niños colectomizados por PAF con especial atención al seguimiento a largo plazo para la detección de manifestaciones extracolónicas. Pacientes y métodos. Revisamos las historias clínicas de 4 pacientes de entre 10 y 16 años, con antecedentes familiares de PAF. En cada paciente se realiza: estudio genético, colonoscopia, enema de doble contraste, esófago-gastro-duodenoscopia, ecografías abdominal y tiroidea, fondo de ojo y marcadores tumorales (CEA, Ca 19.9). Se les practica (..) (AU)

Introduction. Total colectomy is the only effective treatment for prophylaxis against colon cancer in patients with familial adenomatous polyposis (FAP). We present our experience with 4 children colectomized for FAP, with a particular focus on the long-term surveillance to detect extracolonic manifestations. Patients and methods. We review the clinical histories of 4 patients from 10 to 16 years old, with family histories of FAP. Performed for each patient were: genetic testing, colonoscopy, double contrast enema, gastro-œsophageal duodenoscopy, thyroid and abdominal ultrasound, fundus oculi, and tumour markers (CEA, CA 19.9). They underwent total colectomy with ileoanal anastomosis and anorectal mucosectomy with an ileal J-pouch. During follow-up, they were monitored regularly with imaging techniques (including a video capsule in one patient)and endoscopy. Also evaluated were (..) (AU)

La manometría anorrectal en el diagnóstico neonatal de la enfermedad de Hirschsprung / Anorectal manometry in the neonatal diagnosis of hirschsprung's disease

Objetivo. Es conocer la utilidad de la manometría anorrectal (MA)para el screening neonatal de la enfermedad de Hirschsprung (EH). Material y métodos. Se revisan los estudios anomanométricos de 98 neonatos (63 hombres y 35 mujeres) con sospecha clínica de EH. Se valoran las indicaciones de la MA, la edad gestacional, peso, días de vida al test y la realización o no de otros métodos diagnósticos. Se estudia, en reposo, las presiones (mmHg) en la ampolla rectal (AR), cana lanal proximal (CAP) y canal anal distal (CAD), y en la fase de estimulación se investiga la presencia o ausencia del reflejo inhibidor del (..) (AU)

Objective. To determine the usefulness of anorectal manometry(AM) in neonatal screening for Hirschsprung’s disease (HD). Material and methods. We review the anomanometric studies of 98 newborn (63 males and 35 females) with clinical suspicion of HD, noting the indications of AM, gestational age, weight, age in days at the test, and whether or not other diagnostic methods were performed. Studied at rest were the pressures (mmHg) in the rectal ampulla (RA), proximal anal canal (PAC), and distal anal canal (DAC), and, in the stimulation phase, the presence or absence of a recto-anal inhibitory reflex(RAIR). In patients with no RAIR, the study was repeated weekly until (..) (AU)