Derivação intestinal à bishop-koop - um novo uso para uma velha técnica / Bishop-koop ostomy revisited: a "test-drive" intestinal diversion for children with suspected bowel dysmotility

ABSTRACT BACKGROUND: Bishop-Koop ileostomy has been widely used in pediatric patients with the intention of including as much bowel as possible in the intestinal transit early in the management of children with meconium ileus and intestinal atresia. In recent years, we have been using it as an alternative to test the distal bowel function before closure of a previously constructed ostomy in selected children with questionable distal bowel motility. AIMS: The aim of this study was to present our experience with this alternative use of the Bishop-Koop ostomy. METHODS: This is a cross-sectional retrospective review of hospital records, combined with a comprehensive literature review. RESULTS: Seven children were included: five had suspected aganglionosis, one had gastroschisis complicated with ileal atresia, and one had a colonic stricture secondary to necrotizing enterocolitis. In this short series of patients, motility of the distal bowel was correctly assessed in six patients and partially correctly assessed in one patient. One patient did not pass stools per anus after the Bishop-Koop, and he was later confirmed to have Hirschsprung disease. Four patients resumed normal evacuation pattern after closure of the Bishop-Koop. One patient had a Bishop-Koop colostomy because of recurrent enterocolitis after a transanal pull-through. Although he evacuated normally while having the colostomy, the diarrhea recurred after the ostomy was closed. An additional patient, with a severe behavioral problem, did not evacuate per anus after her colostomy was transformed in a Bishop-Koop-type ostomy, despite the apparent presence of normal ganglia in the bowel wall. CONCLUSIONS: Data from the present series allow us to affirm that Bishop-Koop-type ostomy is a safe and efficient procedure that can be used to assess distal bowel function before a definitive transit reconstruction, in children with uncertain motility issues.

RESUMO RACIONAL: A ileostomia Bishop-Koop foi amplamente utilizada em pacientes pediátricos com a intenção de incluir o máximo de intestino possível no trânsito intestinal no manejo inicial de recém-nascidos com íleo meconial e atresia intestinal. Nos últimos anos, temos usado-a como alternativa para testar a função intestinal distal antes do fechamento de uma ostomia, em algumas crianças com motilidade intestinal distal questionável. OBJETIVOS: Apresentar nossa experiência com este uso alternativo da ostomia Bishop-Koop. MÉTODOS: Revisão retrospectiva dos registros hospitalares, combinada com uma revisão abrangente da literatura. RESULTADOS: Sete crianças foram incluídas: cinco tinham suspeita de aganglionose, uma tinha gastrosquise complicada com atresia ileal e uma tinha estenose de colon secundária à NEC. Nesta pequena série de pacientes, a motilidade do intestino distal foi corretamente avaliada em 6 pacientes e parcialmente avaliada em um. Um paciente não evacuou por ânus após o Bishop-Koop e mais tarde foi confirmado que ele tinha doença de Hirschsprung. Seis pacientes retomaram o padrão normal de evacuação após o fechamento do Bishop-Koop. Um paciente que fez uma colostomia Bishop-Koop por causa de enterocolite recorrente após um abaixamento transanal, recidivou a enterocolite após o fechamento definitivo. CONCLUSÕES: A ostomia tipo Bishop-Koop é um procedimento seguro e eficaz que pode ser utilizado para avaliar a função intestinal distal antes de uma reconstrução definitiva do trânsito em crianças com problemas de motilidade intestinal.

Manifestaciones de la fibrosis quística en el periodo neonatal, reporte de caso / Clinical manifestations of cystic fibrosis in the neonatal period, case report

La fibrosis quística (FQ) es una enfermedad autosómi- ca recesiva, más frecuente en población blanca, con una incidencia de 1/3000 a 1/8000. Se debe a una mutación en un gen que codifica una proteína reguladora de la conductancia transmembrana: cystic fibrosis transmem- brane conductance regulator (CFTR) que se encuentra en el brazo largo del cromosoma 7 y en la actualidad se han descrito más de 2,000 mutaciones en este gen. La naturaleza de las mutaciones se correlaciona con la expresión clínica. En los recién nacidos y lactantes, los signos y síntomas gastrointestinales, pancreáticos y he- páticos representan la presentación más común; entre el 80 y el 90% de los lactantes con íleo meconial tienen fibrosis quística. Se presenta el caso de un recién naci- do aparentemente sano, que desde el primer día presen- tó vómitos repetidos y a partir del segundo día datos francos de obstrucción intestinal, se realizó laparotomía exploradora y se encontró obstrucción intestinal por meconio espeso, posteriormente se realizó abordaje por sospecha de fibrosis quística por la presencia de íleo meconial confirmándose el diagnóstico mediante la se- cuenciación del gen CFTR demostrando que el paciente presenta dos variantes patogénicas de fibrosis quística...(AU)

Diagnóstico prenatal de peritonitis meconial fetal: Reporte de caso y revisión de la literatura Prenatal

Se comunica el diagnóstico ultrasonográfico prenatal de un caso de peritonitis meconial en un feto de 33 semanas, quien nació de parto pretérmino y se confirmó el diagnóstico con ultrasonografía, radiografía y cirugía. El neonato fue sometido a laparotomía exploratoria, en la cual se desbridó un pseudoquiste meconial, resecándose el área intestinal perforada, y se realizó anastomosis términoterminal. La evolución inicial fue tórpida, pero finalmente fue dado de alta con buen funcionamiento intestinal.

We report the prenatal ultrasonographic diagnosis of a case of meconium peritonitis in a 33-week fetus, who was born preterm and the diagnosis was confirmed with ultrasound, radiography and postnatal surgery. The neonate underwent exploratory laparotomy, in which a meconium pseudocyst was debrided, the perforated intestinal area was resected and end-to-end anastomosis was performed. The initial evolution was torpid, but he was finally discharged with good intestinal function.

Oclusión intestinal por enfermedad meconial asociada a hipotiroidismo y prematurez: reporte de un caso / Intestinal occlusion for meconial disease associated with hypothyroidism and prematurity: a case report

RESUMEN La Enfermedad Meconial (EM) es una forma de oclusión intestinal en la etapa neonatal, en la cual el contenido meconial se vuelve más espeso; provocando una oclusión intraluminal. Representa, hasta en un 20% de los casos la primera manifestación de la Fibrosis Quística (FQ). Puede ser también síntoma de otras patologías como el hipotiroidismo. El diagnóstico se basa en los antecedentes familiares, los hallazgos de la ecografía prenatal y en síntomas típicos de oclusión intestinal al nacimiento. El objetivo del tratamiento consiste en aliviar la oclusión intestinal mediante medidas de soporte, que en su mayoría revuelven el cuadro clínico. La intervención quirúrgica presenta in-dicaciones puntuales como lo son la falla en el manejo médico o el íleo meconial complicado. Se presenta el caso de un prematuro de 29 semanas, con diagnóstico de enfermedad meconial por hipotiroidismo, en el que se realizó tratamiento quirúrgico con buena evolución.Palabras claves: Íleo meconial, oclusión intestinal, hipotiroidismo

ABSTRACT Meconial Disease (MS) is a form of intestinal occlusion in the neonatal stage, in which the meconial content becomes thicker causing intraluminal occlusion. It represents, in up to 20% of cases, the first manifestation of Cystic Fibrosis (CF). It can also be a symptom of other pathologies such as hypothyroidism. The diagnosis is based on family history, findings of prenatal ultrasound and typical symptoms of intestinal occlusion at birth. The goal of treatment is to relieve intestinal occlusion through supportive measures, which mostly upset the clinical symptoms. The surgical intervention presents specific indications such as the failure in medical management or complicated me-conial ileus. The case of a 29-week premature patient is presented, with a diagnosis of meconial disease due to hypothyroidism, in which surgical treatment was performed with good evolution.Keywords: Meconium ileus, intestinal pseudoclusion, hypothyroidism

A comparative study between Santulli ileostomy and loop ileostomy in neonates with meconium ileus / Estudo comparativo entre ileostomia de Santulli e ileostomia em alça em neonatos com íleo meconial

ABSTRACT Background: Meconium ileus is a common cause of intestinal obstruction in neonates that different surgical methods have been described for its management such as Santulli and loop ileostomy. Aim: To evaluate and compare clinical efficacy of Santulli and loop ileostomy in neonates with meconium ileus. Methods: In this retrospective study, 58 patients with meconium ileus were evaluated. After analyses of hospital records, 53 patients with completed hospital records were included. Demographic information, surgery parameters and postoperative complications were extracted from the hospital records or calling parents. Results: Skin excoriation (21.4% vs. 84%, p<0.001), ostomy prolapsed (0 vs. 28%, p=0.003), and surgical site infection (7.1% vs. 28%, p=0.044) was significantly lower in Santulli ileostomy group. Furthermore, ileostomy output in first week (70.53±15.11 ml vs. 144.6±19.99 ml, p<0.001) and in 4th week (2.14±4.98 ml vs. 18.4±17.95 ml, p<0.001) was significantly lower in Santulli ileostomy group as compared to loop ileostomy group. Finally, hospital stay in Santulli ileostomy group was 12±2.34 and in loop ileostomy 14.24±1.47 days (p<0.001). Conclusion: Santulli ileostomy is better than loop ileostomy due to significant less frequency of surgical site infection, skin excoriation, prolapse of ostomy, ileostomy volume output and hospitalization time.

RESUMO Racional: O íleo meconial é causa comum de obstrução intestinal em neonatos e diferentes métodos cirúrgicos foram descritos para seu manejo, como Santulli e ileostomia em alça. Objetivo: Avaliar e comparar a eficácia clínica de Santulli e ileostomia em alça em neonatos com íleo meconial. Métodos: Neste estudo retrospectivo, foram avaliados 58 pacientes. Após análise, 53 pacientes com prontuários hospitalares completos foram incluídos. Informações demográficas, parâmetros cirúrgicos e complicações pós-operatórias foram extraídos dos prontuários ou dos pais por telefone. Resultados: Escoriações cutâneas (21,4% vs. 84%, p<0,001), estomia prolongada (0 vs. 28%, p=0,003) e infecção do sítio cirúrgico (7,1% vs. 28%, p=0,044) foram significativamente menores no grupo ileostomia Santulli. Além disso, a produção de ileostomia na primeira semana (70,53±15,11 ml vs. 144,6±19,99 ml, p <0,001) e na quarta semana (2,14±4,98 ml vs. 18,4±17,95 ml, p<0,001) foi significativamente menor no grupo de ileostomia Santulli em comparação com o de ileostomia em alça. Finalmente, o tempo de internação no grupo de ileostomia de Santulli foi de 12±2,34 e na ileostomia de alça de 14,24±1,47 dias (p<0,001). Conclusão: A ileostomia de Santulli é melhor que a em alça, devido à menor frequência significativa de infecção do local cirúrgico, escoriação cutânea, prolapso da ostomia, volume da ileostomia e tempo de internação.

A comparative study between santulli ileostomy and loop ileostomy in neonates with meconium ileus / Estudo comparativo entre ileostomia de santulli e ileostomia em alça em neonatos com íleo meconial

ABSTRACT Background: Meconium ileus is a common cause of intestinal obstruction in neonates that different surgical methods have been described for its management such as Santulli and loop ileostomy. Aim: To evaluate and compare clinical efficacy of Santulli and loop ileostomy in neonates with meconium ileus. Methods: In this retrospective study, 58 patients with meconium ileus were evaluated. After analyses of hospital records, 53 patients with completed hospital records were included. Demographic information, surgery parameters and postoperative complications were extracted from the hospital records or calling parents. Results: Skin excoriation (21.4% vs. 84%, p<0.001), ostomy prolapsed (0 vs. 28%, p=0.003), and surgical site infection (7.1% vs. 28%, p=0.044) was significantly lower in Santulli ileostomy group. Furthermore, ileostomy output in first week (70.53±15.11 ml vs. 144.6±19.99 ml, p<0.001) and in 4th week (2.14±4.98 ml vs. 18.4±17.95 ml, p<0.001) was significantly lower in Santulli ileostomy group as compared to loop ileostomy group. Finally, hospital stay in Santulli ileostomy group was 12±2.34 and in loop ileostomy 14.24±1.47 days (p<0.001). Conclusion: Santulli ileostomy is better than loop ileostomy due to significant less frequency of surgical site infection, skin excoriation, prolapse of ostomy, ileostomy volume output and hospitalization time.

RESUMO Racional: O íleo meconial é causa comum de obstrução intestinal em neonatos e diferentes métodos cirúrgicos foram descritos para seu manejo, como Santulli e ileostomia em alça. Objetivo: Avaliar e comparar a eficácia clínica de Santulli e ileostomia em alça em neonatos com íleo meconial. Métodos: Neste estudo retrospectivo, foram avaliados 58 pacientes. Após análise, 53 pacientes com prontuários hospitalares completos foram incluídos. Informações demográficas, parâmetros cirúrgicos e complicações pós-operatórias foram extraídos dos prontuários ou dos pais por telefone. Resultados: Escoriações cutâneas (21,4% vs. 84%, p<0,001), estomia prolongada (0 vs. 28%, p=0,003) e infecção do sítio cirúrgico (7,1% vs. 28%, p=0,044) foram significativamente menores no grupo ileostomia Santulli. Além disso, a produção de ileostomia na primeira semana (70,53±15,11 ml vs. 144,6±19,99 ml, p <0,001) e na quarta semana (2,14±4,98 ml vs. 18,4±17,95 ml, p<0,001) foi significativamente menor no grupo de ileostomia Santulli em comparação com o de ileostomia em alça. Finalmente, o tempo de internação no grupo de ileostomia de Santulli foi de 12±2,34 e na ileostomia de alça de 14,24±1,47 dias (p<0,001). Conclusão: A ileostomia de Santulli é melhor que a em alça, devido à menor frequência significativa de infecção do local cirúrgico, escoriação cutânea, prolapso da ostomia, volume da ileostomia e tempo de internação.

Diagnóstico pré-natal de fibrose cística / Prenatal diagnosis of cystic fibrosis

A fibrose cística é caracterizada pelo desequilíbrio na concentração de cloro e sódio nas células, mudando a viscosidade das secreções. Uma das primeiras manifestações clínicas consiste em obstrução intestinal perinatal, consequência do mecônio anormalmente espesso. Até 50% dos recém-nascidos com íleo meconial apresentam alguma lesão intestinal associada, como volvo ou perfuração. O caso apresenta uma gestante de 31 semanas, com história pregressa de filha com fibrose cística, que foi encaminhada ao serviço de ultrassom de urgência queixando-se de redução de movimentação fetal. Ao ultrassom, o feto apresentava dilatação em alças intestinais, intestino delgado hiperecogênico e ascite. O parto foi realizado em dois dias e o neonato foi submetido à laparotomia, identificando-se vólvulo de segmento jejunoileal e necrose em segmento intestinal. Com o presente relato, ressalta-se a importância da triagem e do acompanhamento das pacientes com fator de risco, durante o pré-natal, visando ao melhor prognóstico neonatal.(AU)

Cystic fibrosis is characterized by imbalance in the concentration of sodium and chlorine in the cells, changing the viscosity of the secretions. One of the first clinical manifestations consists of perinatal intestinal obstruction, a consequence of abnormally thick meconium. Up to 50% of newborns with meconium ileus have some associated intestinal lesion, such as volvulus or perforation. The case presents a pregnant woman of 31 weeks, a previous history of a daughter with cystic fibrosis, referred to the emergency ultrasound service complaining of reduced fetal movement. At ultrasound, the fetus presented dilation in intestinal loops, hyperechogenic small intestine and ascites. Delivery was performed in two days and the neonate underwent laparotomy, identifying jejunoileal segment volvulus and intestinal segment necrosis. With the present report, the importance of screening and monitoring of patients with a risk factor during prenatal care is emphasized, aiming at a better neonatal prognosis.(AU)

Diagnóstico prenatal y enfrentamiento postnatal de peritonitis meconial, a propósito de un caso / Prenatal diagnosis and postnatal confrontation of meconial peritonitis: a clinical case

INTRODUCCIÓN La peritonitis meconial (PM) es una peritonitis localizada o generalizada, aséptica, química o de cuerpo extraño; producto del paso de meconio a la cavidad peritoneal y esta correlacionada con la perforación prenatal del tracto digestivo. Se presenta en 1 de cada 30.000 recién nacidos (RN). El diagnostico ecográfico prenatal mejora los resultados perinatales, el hallazgo más frecuente es la ascitis. La PM requiere un tratamiento multidisciplinario urgente, la mayoría es de resolución quirúrgica. OBJETIVO Dar a conocer una patología infrecuente, que requiere un alto grado de sospecha diagnostica para otorgar un manejo perinatal específico y oportuno. Caso clínico Primigesta de 29 años sin antecedentes mórbidos, cursando embarazo controlado de 36+5 semanas. En control ecográfico se evidencia ascitis fetal. Se hospitaliza en alto riesgo obstétrico, descartando patología metabólica e infecciosa. A las 37 semanas por cesárea de urgencia, se obtiene RN con distensión abdominal y hepatomegalia. En laparotomía exploradora se evidencia asas intestinales indemnes. En re intervención se encuentra hernia de íleon distal perforada, se confecciona ostomia, evoluciona favorablemente y es dado de alta. DISCUSIÓN Es fundamental considerar la PM dentro de los diagnósticos diferenciales de ascitis fetal. Un diagnóstico oportuno mejora los resultados perinatales y permite prevenir posibles complicaciones.

INTRODUCTION Meconial peritonitis (PM) is localized or generalized peritonitis, aseptic, chemical or strange body; a product of meconium steps to the peritoneal cavity and is correlated with prenatal perforation of the digestive tract. It occurs in 1 in 30,000 newborns. Prenatal ultrasound diagnosis improves perinatal outcomes, the most frequent finding is ascites. PM requires urgent multidisciplinary treatment, most of cases need surgical resolution. OBJECTIVE To present an infrequent pathology, which requires a high degree of diagnostic suspicion to grant a specific and timely perinatal management. Clinical case Pregnant 29 years old woman without morbid history, 36 weeks of controlled pregnancy. Ultrasound control shown fetal ascites. He is hospitalized at high obstetric risk, ruling out metabolic and infectious pathology. At 37 weeks by emergency caesarean section, is obtained a baby boy with abdominal distension and hepatomegaly. In exploratory laparotomy there are undamaged intestinal handles. In re intervention it is noted herniated perforated distal ileum, ostomy is made. Patient evolves favourably and is discharged. DISCUSSION It is essential consider PM within the differential diagnoses of fetal ascites. An opportune diagnosis improves the perinatal results and could avoids possible complications.

Síndrome de Ballantyne: segundo episodio en una embarazada. Reporte de caso y revisión de la bibliografía / Ballantyne syndrome: Second episode in a pregnant woman. Case report and literature review

Resumen ANTECEDENTES: El síndrome de Ballantyne es un cuadro poco frecuente asociado con hidrops fetal, en el que la madre refleja los síntomas fetales. Es decisivo diferenciarlo de la preeclampsia porque comparten signos de hipertensión y proteinuria. Su etiopatogenia se desconoce pero se han propuesto teorías asociadas con el desequilibrio entre factores angiogénicos y antiangiogénicos. CASO CLÍNICO: Paciente de 29 años, controlada en la consulta de Medicina Materno-Fetal debido al antecedente de síndrome de Ballantyne en el embarazo previo. En la ecografía de control a las 26 semanas se detectaron placentomegalia, ascitis fetal e incremento del líquido amniótico. Las ecografías posteriores demostraron polihidramnios e hidrops a las 28 semanas. Enseguida de la aparición del edema se estableció el diagnóstico de síndrome del espejo recidivante e hidrops no inmunitario. Se hospitalizó para drenaje del líquido. La amniorrexis se produjo a las 29 + 6 semanas. Una semana después se inició la dinámica uterina y el embarazo finalizó a las 31 semanas, después de la ruptura prematura de membranas. El neonato fue un varón de 3200 g, Apgar 2-6-8 al minuto, 5 y 10 minutos, respectivamente. Después del estudio postnatal se estableció el diagnóstico de perforación ileal múltiple. El recién nacido requirió 5 intervenciones quirúrgicas, con posoperatorio tórpido y se dio de alta a los 3 meses de vida. CONCLUSIONES: El síndrome del espejo es infradiagnosticado, a pesar de su potencial para complicar gravemente el embarazo asociado con hidrops. La recuperación de la madre suele ser favorable a los pocos días de posparto aunque la morbilidad y la mortalidad fetal son elevadas.

Abstract BACKGROUND: Ballantyne syndrome is characterized by the triad: fetal, placental and maternal edema. It is an uncommon condition associated with fetal hydrops, in which mother reflects fetal symptoms. It is essential to differentiate from preeclampsia, since there are common signs such as hypertension and proteinuria. Etiopathogenesis is unknown, although theories associated with an imbalance between angiogenic and antiangiogenic factors have been postulated. Treatment consists of ending the pregnancy or improving the fetal situation. CLINICAL CASE: We present the case of a 29-years pregnant woman controlled in the Maternal-Fetal Medicine Unit due to the history of Ballantyne Syndrome in the previous gestation. In the follow-up ultrasound performed at 26-weeks, placentomegaly, fetal ascites and increased amniotic fluid were detected. Subsequent ultrasounds showed polyhydramnios and fetal hydrops at 28-weeks. After maternal edema began, she was diagnosed with recurrent Mirror Syndrome and non-immune hydrops. Admission was indicated and amniodrainage was performed due to symptomatic polyhydramnios. Finally, premature rupture of membranes occurred at 29+6-weeks. She started uterine dynamic after one week, ending in a preterm delivery at 31-weeks after premature rupture of membranes. A 3200gr male was born with Apgar Scores 2-6-8 at 1, 5 and 10min respectively and, after postnatal study, he was diagnosed with multiple ileal perforation. Five surgical interventions were necessary, with a complicated postoperative period and could be discharged at 3 months of age. CONCLUSIONS: Mirror syndrome is an underdiagnosed pathology of unknown incidence that can seriously complicate gestation associated with fetal hydrops. Maternal recovery is favorable few days after delivery, but it leads to high fetal morbi-mortality.

Peritonitis meconial en neonatos a propósito de un caso / Meconium peritonitis in neonates with regard to a case

La Peritonitis Meconial es una patología infrecuente con una incidencia de 1/35000 nacimientos. Se caracteriza por la presencia de una perforación intestinal con salida de meconio a la cavidad abdominal que ocasionará una peritonitis química estéril. El diagnóstico es prenatal con ecografía, con calcificaciones abdominales, ascitis fetal, dilatación intestinal, seudoquistes meconiales y polihidramnios. En su etiopatogenia se encuentra la obstrucción orgánica (vólvulo, atresia o íleo meconial), etiología viral (hepatitis, varicela, citomegalovirus, parvovirus) y fibrosis quística. En nuestro caso no fue posible determinar la causa de la perforación. El objetivo de este trabajo es conocer el manejo postquirúrgico y las complicaciones.

Meconium peritonitis is a rare disease with an incidence of 1/35000 births. It is characterized by the presence of intestinal perforation with meconium out of the abdominal cavity cause a sterile chemical peritonitis. The prenatal diagnosis is with ultrasound, abdominal calcifications, ascites, bowel dilatation, meconium pseudocysts and polyhydramnios. The phatogenesis includes certain conditions: organic obstruction (volvulus, atresia or meconium ileus), viral etiology (hepatitis, chicken pox, cytomegalovirus, parvovirus) and cystic fibrosis in rare cases. In our case it was not possible to determine the cause of the perforation. The aim of this study was to determine the postoperative management and complications.

Identificación de la mutación ΔF508 en afectados con íleo meconial

Objetivo: Identificar la mutación ΔF508 en pacientes con íleo meconial. Ambiente: En el Instituto de Investigaciones Genéticas de la Facultad de Medicina de la Universidad del Zulia. Maracaibo. Métodos: Se estudiaron diez pacientes con ileo meconial. La detección de la mutación ΔF508 se realizó a partir de amplificación por reacción en cadena de la polimerasa de un segmento del gen de fibrosis quística de 98 pares de bases que contiene el codón que codifica a la fenilalanina en la posición 508 y el cual está ausente en los que tienen la mutación. Resultados: Se detectó la mutación ΔF508 en ambos alelos del gen de la fibrosis quística en tres pacientes, en un solo alelo en cinco y en dos no se identificó el alelo ΔF508 en su patrón molecular. Conclusión: El íleo meconial fue el marcador que sugirió el diagnóstico de fibrosis quística y permitió el asesoramiento genético de las familias al confirmar la presencia de la mutación ΔF508.

Objective: To perform ΔF508 mutation in patients with meconium ileus. Setting: In the Genetic Research Institute of the Faculty of Medicine. University of Zulia. Maracaibo. Methods: We studied 10 patients with meconium ileus. Detection of the mutation was performed from the amplification of a 98 pair of bases cystic fibrosis gene segment which contains the codon that encodes fenilalanine in the 508 position by polymerase chain reaction. This amplified product is absent in those who have the mutation. Results: The ΔF508 mutation was detected in both alleles of the cystic fibrosis gene in 3 patients, 5 were heterozygous for this mutation and in two patients were undetectable. Conclusion: Meconium ileus was the marker that suggested the diagnosis of cystic fibrosis and allowed the genetic counseling in this family to confirm the presence of the ΔF508 mutation.

Periorquitis meconial: A propósito de un caso / Meconium periorchitis: A case report

La periorquitis meconial es infrecuente. En el feto, está abierto el conducto peritoneo vaginal y, ante una perforación intestinal por cualquier causa (atresia intestinal, vólvulo, entre otras), se produce una peritonitis meconial. El contenido intestinal puede pasar hacia la cavidad vaginal escrotal. La peritonitis meconial puede resolverse espontáneamente y sin consecuencias. Restos calcificados de este evento pueden quedar en la cavidad peritoneal y/o en el escroto. En el recién nacido, se observará un hidrocele y una masa palpable intraescrotal, ecográficamente heterogénea y con calcificaciones. La periorquitis meconial o vaginalitis meconial se resuelve espontáneamente. Su desconocimiento podría llevar a cirugías innecesarias en el neonato. Se presenta el caso de un paciente de 33 días de vida con una masa escrotal, en quien se realizó una cirugía exploratoria. El diagnóstico anatomopatológico fue de periorquitis meconial.

Meconium periorchitis is uncommon. In the unborn child the peritoneum vaginal canal is open and, secondary to intestinal perforation due to any cause (intestinal atresia, volvulus, and others), meconium peritonitis occurs. The intestinal content reaches the scrotal vaginal cavity. Meconium peritonitis can heal spontaneously and without consequences. Calcified remnants of this event may remain in the peritoneal cavity and/or scrotum. In the newborn, a hydrocele and scrotal mass can be observed; the ultrasound will show a heterogeneous image with calcifications. Meconium periorchitis or meconium vaginalitis resolves spontaneously. The lack of awareness of this disease could lead to unnecessary surgery in the newborn. We present a 33 days old patient with a scrotal mass in whom surgery was performed with the pathological diagnosis of meconium periorchitis.

Recém-nascidos banhados em líquido amniótico meconial: atendimento em sala de parto e ocorrência de Síndrome da Aspiração Meconial / Meconium stained neonate: delivery room management and Meconium Aspiration Syndrome occurrence

As práticas para reanimação neonatal são fundamentadas em recomendações internacionais e no Brasil mantém-se a indicação de aspirar boca e nariz dos recém-nascidos banhados em mecônio, ainda que vigorosos. O objetivo deste estudo foi verificar o atendimento neonatal realizado na sala de parto em uma maternidade de atual conduta conservadora frente aos recém-nascidos a termo e vigorosos e a sua associação à ocorrência da Síndrome de Aspiração Meconial. Trata-se de um estudo observacional e transversal, com amostra de recém-nascidos a termo, cujas informações sobre os cuidados dispensados na sala de parto e as condições após o nascimento foram obtidas em registros de prontuários. Foram analisados 376 recém-nascidos, dos quais 70 (18,6%) nasceram banhados em mecônio. Destes, apenas 20 (28,6%) foram reanimados e 14 (70%) obtiveram Apgar no 1º minuto menor ou igual a 7. Às demais 50 crianças, o contato materno imediato foi estimulado e o cordão foi clampeado tardiamente. Dos 20 recém-nascidos banhados em mecônio e que foram reanimados ao nascer, 7 (35%) tiveram sua traqueia aspirada sob visualização direta, sendo que o escore médio de Apgar no 1º minuto destes indivíduos foi 4, enquanto o escore médio de Apgar no 1º minuto dos recém-nascidos que não foram submetidos à aspiração traqueal foi 8. Apenas um recém-nascido estudado desenvolveu Síndrome de Aspiração do Líquido Amniótico Meconial. A conduta expectando diante dos recém-nascidos vigorosos banhados em líquido amniótico meconial favorece o contato precoce com a mãe e a transferência sanguínea placentária e pode não aumentar a incidência de Síndrome da Aspiração Meconial.

The practices for neonatal reanimation are based on international recommendations and in Brazil the advised procedure is to aspirate the mouth and the nose of newborns that are born in meconiumstained amniotic fluid, even if they are vigorous. Thus, these children are separated from their mothers and their umbilical cord is immediately clamped. The objective of this study was to verify the neonatal assistance done in the labor room in conservative practice maternity towards vigorous and on-term newborns and its association with the occurrence of Meconium Aspiration Syndrome. This study is observational and transversal, with on-term newborns as samples, whose labor room care information and post-labor conditions were obtained through medical records. 376 newborns were analyzed, 70 of which (18,6%) were born through meconium-stained amniotic fluid. From these 70, only 20 (28,6%) were reanimated and 14 (70%) obtained first minute Apgar equal to or less than 7. Immediate maternal contact and late cord clamping was stimulated for the other 50 children. From the 20 newborns born in meconium that were reanimated at birth, 7 (35%) had their trachea aspirated under direct sight, being that the average first minute Apgar score of these individuals was 4, while the average first minute Apgar score of newborns not submitted to tracheal aspiration was 8. Only 1 newborn studied developed the Meconium Aspiration Syndrome. The expectant practice towards vigorous newborns through meconium-stained amniotic fluid favors the early contact with the mother and the placental blood transfusion and may not raise the incidence of Meconium aspiration Syndrome.

Síndrome de DIOS en dos pacientes con fibrosis quística: revisión de la literatura / Case Studies of Two Cystic Fibrosis Patients with distal intestinal obstruction syndrome (DIOS) and a Literature review

En los pacientes con fibrosis quística (FQ) el íleo meconial, el síndrome de obstrucción distal y la constipación conforman un grupo de manifestaciones gastrointestinales con una gravedad variable como consecuencia del incremento en la viscosidad del moco y el tiempo prolongado del tránsito intestinal. El grupo de trabajo de fibrosis quística de la Sociedad Europea de Gastroenterología, Hepatología y Nutrición Pediátrica realizó un consenso en 2010 y definió el síndrome de obstrucción intestinal distal (DIOS) como un cuadro agudo de obstrucción intestinal que puede ser completo o incompleto. El DIOS completo se define como un cuadro de vómito bilioso y/o niveles hidroaéreos en el intestino delgado observados en la radiografía de abdomen, masa fecal a nivel ileocecal, y dolor y/o distensión abdominal; el incompleto se define como el cuadro de dolor abdominal y/o distensión y masa fecal a nivel ileocecal, pero sin los otros signos de obstrucción completa. La frecuencia de presentación de esta entidad en pacientes con FQ es variable y depende de las definiciones utilizadas; se ha considerado que la prevalencia va del 7% a 8% en niños y en adultos puede ser tan alta como de 23,3 episodios por 1000 pacientes/año, con una prevalencia que varía entre el 14% y el 16%. Dadas las dificultades que se presentan en estos pacientes para definir y establecer el diagnóstico, quisimos ilustrar este síndrome con 2 niños que consultaron a nuestra institución; además, se realizó una revisión del tema para generar sensibilización sobre el diagnóstico temprano y su manejo.

Patients with cystic fibrosis (CF) have greater than normal mucosal viscosity and prolonged intestinal transit times which can result in meconium ileus, distal intestinal obstruction syndrome (DIOS) and constipation of varying severity. The cystic fibrosis working group of the European Society of Gastroenterology, Hepatology and Pediatric Nutrition produced a consensus in 2010 that defined distal intestinal obstruction syndrome (DIOS) as acute intestinal obstruction which may be complete or incomplete. Fully developed DIOS is defined as bilious vomiting and/or sufficient amounts of fluid and air in the small intestine to be observed in an abdominal X-ray, a fecal mass in the ileocecal area, pain and/or bloating. Incomplete DIOS is defined as abdominal pain and/or bloating and fecal mass in the ileocecal area, but without the other signs of complete obstruction. The incidence of this condition in cystic fibrosis patients varies. Depending on the definition used, the prevalence of DIOS has been measured between 7% and 8% in children with cystic fibrosis, but has been reported to be as high as 23.3 episodes per 1,000 patients per year for adult cystic fibrosis patients with a prevalence ranging between 14% and 16%. Given the difficulties of establishing this diagnosis in these patients, we wanted to illustrate this syndrome with two children who were treated in our institution and to review this subject in order to generate awareness about early diagnosis and management.

Early manifestations of cystic fibrosis in a premature patient with complex meconium ileus at birth / Manifestações precoces da fibrose cística em paciente prematuro com íleo meconial complexo ao nascimento

OBJECTIVE: To report a case of a preterm infant with complex meconium ileus at birth and cystic fibrosis. CASE DESCRIPTION: A male infant was born by vaginal delivery at 33 weeks and 5 days of gestational age with respiratory distress and severe abdominal distension. The exploratory laparotomy in the first day of life identified meconium ileus and secondary peritonitis. Ileal resection and ileostomy were performed, followed by reconstruction of the bowel transit at 20 days of life. At 11 days of life, the first immunoreactive trypsinogen (IRT) was 154 ng/mL (reference value = 70), and oral pancreatic enzymes replacement therapy was started. After 23 days, the second IRT was 172ng/mL (reference value = 70). At 35 days of age he was discharged with referrals to primary care and to a special clinic for CF for the determination of sweat chloride. He was received in the outpatient clinic for neonatal screening for CF at 65 days of life presenting malnutrition and respiratory distress. The sweat chloride test was performed, with a positive result (126mEq/L). COMMENTS: This case illustrates the rapid evolution of CF in a premature patient with complex meconium ileus as the first clinical manifestation.

OBJETIVO: Relatar o caso de um recém-nascido prematuro com íleo meconial complexo e fibrose cística. DESCRIÇÃO DO CASO: Recém-nascido do sexo masculino nasceu de parto vaginal com 33 semanas e cinco dias de idade gestacional e apresentou desconforto respiratório e distensão abdominal grave. Foi submetido à laparotomia exploratória no primeiro dia de vida e identificado íleo meconial com peritonite secundária. Foram feitas ressecção ileal e ileostomia, com reconstrução do trânsito intestinal aos 20 dias de vida. Com 11 dias de idade, a primeira dosagem sérica de tripsina imunorreativa (TIR) foi 154ng/mL (valor de referência = 70) e optou-se pelo início da terapia de reposição oral de enzimas pancreáticas. Após 23 dias, a segunda TIR foi 172ng/mL (valor de referência = 70). Recebeu alta com 35 dias de vida com encaminhamentos à rede básica de saúde e ao serviço de referência para a detecção de fibrose cística. Foi atendido no ambulatório de triagem neonatal para fibrose cística aos 65 dias de vida e apresentava desnutrição e desconforto respiratório. O resultado do teste do cloro no suor foi positivo (126 mEq/L). COMENTÁRIOS: O caso ilustra a rápida evolução da fibrose cística em um paciente prematuro com íleo meconial complexo como primeira manifestação clínica.

Variabilidad fenotípica de la fibrosis quística: reporte de 2 gemelos con la mutación F508/F508 / Phenotypic variability of cystic fibrosis: case report of twins with F508/F508 mutation

Introduction: Cystic fibrosis (CF) is an autosomal recessive disease caused by a mutation in the CFTR gene, resulting in an alteration of a protein involved in sodium and chloride transport in the apical plasma membrane of epithelial cells in respiratory and intestinal tracts. It primarily presents respiratory compromise, affecting other systems in different ways. Meconium ileus is a gastrointestinal manifestation that occurs in 10-20% of patients, which is not entirely attributable to a specific CFTR mutation. Objective: To report a case of monozygotic twins diagnosed with CF (F508) in whom phenotypic variation is evident based on the expression of meconium ileus, showing that there are external modifiers in the development of this complication. Case report: monoamniotic monochorionic twin pregnancy which resulted in preterm births. One of the patient presented meconium ileus at birth leading to CF suspicion and establishing the diagnosis by (F508/F508) molecular analysis in both twins. Conclusion: Phenotypic variability in these twins supports the hypothesis proposed by different authors that there are other gene expression-modulation factors of the disease as well as environmental modifiers that must be taken into account when dealing with this disease.

Introducción: La fibrosis quística (FQ) es una enfermedad autosómica recesiva debida a una mutación en el gen CFTR, resultando en una alteración de una proteína implicada en el transporte de sodio y cloro en la membrana apical de células del epitelio respiratorio y gastrointestinal; presenta principalmente compromiso respiratorio, afectando otros sistemas de manera variable. El íleo meconial es una manifestación gastrointestinal presente en 10-20% de los pacientes, no del todo atribuible una mutación específica del CFTR. Objetivo: Reportar un caso de dos gemelos monocigóticos con diagnóstico de FQ (ΔF508), en quienes es evidente la variabilidad fenotípica en cuanto a la expresión de íleo meconial, poniendo de manifiesto que existen modificadores externos a la mutación en el desarrollo de esta complicación. Reporte de caso: Gemelos producto de embarazo monocorial monoamniotico, nacidos pretérmino, uno de ellos presenta íleo meconial al nacimiento lo que lleva al estudio de FQ, estableciendo el diagnóstico por análisis molecular (ΔF508/ΔF508) en ambos gemelos. Conclusión: La variabilidad fenotípica en estos gemelos apoya la hipótesis planteada por diferentes autores de que existen otras factores genéticos moduladores de la expresión de la enfermedad, así como modificadores ambientales, que deben ser tenidos en cuenta a la hora de abordar esta enfermedad.

Aspectos clinicoepidemiológicos de gestantes con embarazo prolongado en el municipio de Palma Soriano / Clinical and epidemiological aspects of pregnant women with prolonged pregnancy in Palma Soriano municipality

Se realizó un estudio de tipo epidemiológico, observacional, analítico, longitudinal y prospectivo, de 44 gestantes con parto a las 42 semanas o más, atendidas en el Hospital Ginecoobstétrico Docente "Dra. Nelia I. Delfín Ripoll" del municipio de Palma Soriano, en Santiago de Cuba, de enero a diciembre de 2013, con vistas a caracterizarles clínica y epidemiológicamente y determinar la repercusión del embarazo prolongado en el binomio madre-hijo. Entre los resultados sobresalientes figuraron: la alta incidencia de la fecha no confiable de la última menstruación en el grupo de nulíparas (51,9 %), el parto por cesárea (29,5 %), cuya principal causa fue la inducción fallida (38,4 %), seguida de la desproporción céfalo-pélvica (23,1 %); el síndrome de aspiración meconial como complicación en los recién nacidos (29,5 %), y la atonía uterina y el sangrado (6,8 %, respectivamente) como complicaciones en las madres. Pudo concluirse que en la serie, el embarazo prolongado generalmente cursó en gestantes con fecha confiable de la última menstruación, el indicador de cesárea primitiva se incrementó y fue más frecuente la presencia de complicaciones en los recién nacidos que en las madres.

An epidemiological, observational, analytic, longitudinal and prospective study of 44 pregnant women with childbirth date at 42 weeks or more, assisted in "Dr. Nelia I. Delfín Ripoll" Teaching Gynecological and Obstetrical Hospital from Santiago de Cuba municipality was carried out from January to December, 2013, with the objective of characterizing them clinically and epidemiologically and to determine the influence of prolonged pregnancy in the binomial mother-son. Among the excellent results there were: the high incidence of non reliable date of the last menstruation in the nulliparous group (51.9%), the childbirth through caesarean section (29.5%) whose main cause was the failed induction (38.4%), followed by the cephalopelvic disproportion (23.1%); the syndrome of meconium aspiration as complication in the newborns (29.5%), and the uterine atony and bleeding (6.8%, respectively) as complications in the mothers. It could be concluded that in the series, the prolonged pregnancy generally took place in women with reliable last menstruation date, the indicator of primitive cesarean section was increased and the presence of complications was more frequent in the newborns than in mothers.

Realidad de la circulación de membrana extracorpórea neonatal en Colombia: descripción de los primeros casos / Current state of neonatal extracorporeal membrane oxygenation in Colombia: description of the first cases

La oxigenación de membrana extracorpórea se considera una terapia de rescate y soporte vital compleja, con beneficios en enfermedades cardiorrespiratorias durante el periodo neonatal, que cumple con las características de ser reversible en recién nacidos mayores de 34 semanas. El criterio de selección de los pacientes y el momento oportuno en que se indica son críticos para el resultado final, si bien las nuevas alternativas de manejo en falla respiratoria hipoxémica en recién nacidos a término y casi a término han generado una disminución de su uso, excepto en la hernia diafragmática, que continúa siendo una enfermedad compleja donde podría tener alguna aplicabilidad. Si bien nuestra experiencia está iniciándose, el entrenamiento constante hará de la oxigenación de membrana extracorpórea una opción para pacientes complejos en quienes la terapia máxima fracasa. Se hace un informe de los primeros casos neonatales por falla respiratoria hipoxémica manejados en la Fundación Cardiovascular de Colombia.

Extracorporeal membrane oxygenation is considered a rescue therapy and complex vital support with benefits in cardiorespiratory diseases during neonatal period that fulfil the characteristics of being reversible in neonates older than 34 weeks. The criteria for patient selection and its prompt use are critical for the final result. Even though new alternatives for management of hypoxemic respiratory failure in full term and almost full term neonates have decreased its use, congenital diaphragmatic hernia continues being a complex disease where it can have some applicability. Even though our experience is beginning, constant training will make of extracorporeal membrane oxygenation an option for complex patients in whom maximum therapy fails. This is a report of the first neonatal cases of hypoxemic respiratory failure managed at Fundación Cardiovascular de Colombia.

Peritonitis meconial: experiencia clínica / Meconial peritonitis: a clinical experience

Meconial Peritonitis (MP) is a chemical, sterile, inflammatory reaction of the visceral and parietal peritoneum, intestinal loops and mesenterium, produced by a prenatal intestinal perforation. MP can be classified into meconial ascitis, simple, fibroadhesive, and giant cyst. The natural evolution may follow various courses. Objective: Describe the spectrum of clinical presentation and management in a series of patients with MP. Patients and Methods: Retrospective study of patients with MP manageg between 2000 and 2009. Results: 5 patients were found: 1 giant cyst, 2 simple MP and 2 fibroadhesive. 4 required surgery. All required proki-netics and were fed early. Evolution was satisfactory in 4 (80 percent), one died in the neonatal stage. Discussion: Sonography and magnetic resonance (rarely) may provide the prenatal diagnosis. At birth, they must be closely observed to decide surgical management according to evolution. Spontaneous sealing of the perforation is seen in 1 of 5 (20 percent) in our series, reestablishing intestinal continuity without requiring surgery. Early feeding and prokinetics are basic elements in management. Conclusion: MP is a serious neonatal pathology, its morbidity and mortality may be decreased through adequate management in the neonatal period. Clinical observation should determine treatment, which ranges from spontaneous resolution to abdominal surgical repair with intestinal resection, ostomy or primary anastomosis.

La peritonitis meconial (PM) es una reacción inflamatoria de origen químico, estéril, del peritoneo visceral y parietal, asas intestinales y mesenterios, producida por una perforación intestinal prenatal. La PM se clasifica en: ascitis meconial, PM simple, fibroadhesiva y quiste gigante. La evolución natural sigue distintos cursos. El objetivo de este trabajo es describir el espectro de presentación clínica en una serie de pacientes con Peritonitis meconial y su tratamiento. Pacientes y Método: Estudio retrospectivo de pacientes con PM, manejados entre los años 2000 y 2009. Resultados: Muestra de 5 pacientes, 1 con PM tipo quistes gigantes, 2 con PM simple y 2 con el tipo fibroadhesivo. Cuatro requirieron cirugía. Todos requirieron prokinéticos y fueron alimentados precozmente. La evolución inmediata y alejada fue satisfactoria en 4 (80 por ciento). Un paciente fallece en el período neonatal. Conclusión: La PM es una patología grave del período neonatal cuya morbimortalidad asociada puede ser atenuada mediante una adecuada sospecha diagnóstica y un manejo expectante en el período neonatal, para definir la mejor alternativa terapéutica, que va desde la evolución espontánea a la mejoría hasta exploración quirúrgica abdominal con resección intestinal y ostomía o anastomosis primaria.

Factores relacionados con el Apgar bajo al nacer / Factors related to a low birth Apgar score

En el continente africano hoy día se reportan las mayores cifras de mortalidad infantil del mundo, factores como son el Apgar bajo al nacer y las malformaciones congénitas pueden prevenirse con acciones de salud oportunas en la comunidad y el nivel secundario de salud. OBJETIVO: mostrar el comportamiento de algunos factores relacionados con el puntaje de Apgar bajo al nacer en el Hospital Materno de referencia nacional de Asmara en Eritrea. MÉTODOS: se realizó una investigación analítica prospectiva de tipo caso control de las embarazadas que tuvieron recién nacidos con un Apgar igual o menor de 3 puntos en el quinto minuto de vida en el Hospital Ginecoobstétrico de referencia nacional de Asmara, Eritrea, desde el 20 de noviembre de 2006 hasta el 20 de noviembre de 2007. RESULTADOS: la duración del trabajo de parto y del período expulsivo, el modo de comienzo y terminación del parto, el uso de oxitocina, los antecedentes obstétricos desfavorables, las patologías crónicas asociadas al embarazo, el meconio en el líquido amniótico, la edad gestacional al parto y el peso del recién nacido están relacionados con el índice de Apgar bajo al nacer en esta institución. CONCLUSIONES: los factores más relacionados con el alto índice de Apgar bajo al nacer en esta institución fueron: el antecedente de hipoxia perinatal anterior, la enfermedad hipertensiva gravídica, el uso de oxitocina en cualquier momento del trabajo de parto, el mayor tiempo de duración del período expulsivo, la presencia de líquido amniótico meconial y el recién nacido con bajo peso al nacer

Nowadays, in African continent are reported the higher figures of infantile mortality at world scale, factors as a low Apgar score at birth and the congenital malformations could be prevented with timely health actions in community at secondary health level. OBJECTIVE: To demonstrate the behavior of some factors related to the low Apgar score at birth in the National Reference Maternity Hospital of Asmara in Eritrea. METHODS: A prospective analytical case-control research of pregnants to gave birth newborns with a Apgar score similar or less than 3 points during the fifth minute of life in the Gynecology and Obstetrics National Reference Hospital of Asmara, Eritrea from November, 2006 to November 20, 2007. RESULTS: The labor length and the expelling period, the onset and termination of delivery, the use of oxytocin, the unfavourable obstetrical backgrounds, chronic pathologies related to pregnancy, presence of meconium in amniotic fluid, gestational age at delivery and the newborn weight are related to a low Apgar score at birth in this institution. CONCLUSIONS: The factors more related to a low Apgar score at birth in this institution were: an anterior perinatal hypoxia, gravidity hypertensive disease, use of oxytocin in any moment at labor, the great length time of expelling period, presence of meconium in amniotic fluid and a low-birth newborn