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.

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 Study of Gastrointestinal Tract Obstruction in Neonates and Its Management

Gastrointestinal tract obstructions are the most common surgical emergencies in neonatal period. The aetiology of these disorders is diverse and mostly the consequences prenatal developmental malformations. The management and survival are still a challenge, especially in developing countries like India.METHODSA prospective observational study was conducted in a tertiary care paediatric institute from October 2016 to September 2019. Newborns in the age group of one to 28 days, who were operated in the hospital for gastrointestinal tract obstruction were analysed. Institutional Ethics Committee approval was taken. Data with regard to demographic patterns, clinical profile, management approach and outcome, were collected and analysed.RESULTSOut of 531 newborns operated for gastrointestinal obstruction, 80% cases presented within first week of life. Male neonates were more commonly affected than females (M: F=2.2:1) and 58% cases were having low birth weight. Anorectal malformation was the commonest cause of obstruction (40.7% cases) followed by intestinal atresia (18% cases). Hirschsprung’s disease, malrotation, meconium ileus and hypertrophic pyloric stenosis were among the important aetiologies. The overall mortality in this study was 13% and septicaemia was the leading cause.CONCLUSIONSAetiology of gastrointestinal obstruction in newborn is diverse ranging from oesophageal atresia to anorectal malformations. Low birth weight and other co-morbidities are associated in many cases. The overall outcome is in improving trend due to gradual understanding about the pathology and advancement of neonatal care. Early diagnosis, surgical intervention and availability of well-equipped neonatal intensive care unit facility are essential for better survival.

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)

Diagnosis and treatments in simple meconium ileus in neonates: ten-year experience in a single center / 中华实用儿科临床杂志

Objective@#To improve the accuracy of the diagnosis and decrease the unnecessary surgical exploration in neonates with simple meconium ileus (SMI) by analyzing clinical characteristics of SMI.@*Methods@#Forty-five neonates identified as SMI from January 2008 to May 2018 had been collected, and the data of pregnancy, birth weight, treatments, hospital stay and results of follow-up were included.The patients were divided into 2 groups: surgical group and non-surgical group.The surgical group underwent enterostomy at the end of ileum, meanwhile, the intestinal wall was biopsied for checking the existence of ganglion cells.All the neonates in the surgical group underwent stoma closure in 3 to 6 months postoperatively.The non-surgical group received fasting, intravenous nutritional support, enema with amiotol diluted into 11 or injected into the stomach by the gastric tube.They all received enema with warm salt (9 g/L) 1-2 times per day.Once the abdominal dilation was mitigated and autonomous defecation obtained, the neonates gradually began the oral feeding and weaned from the total parenteral nutrition(TPN). The 45 neonates were also divided into earlier group (from January 2008 to May 2013) and later group (from June 2013 to May 2018) according to the time of diagnosis.The relationships between the SMI treatment choice and the pregnancy, birth weight and time of diagnosis were analyzed.@*Results@#No cystic fibrosis lesions were found in 45 neonates, of which 21 and 24 neonates were in non-surgical group and surgical group, respectively.In the operation, the intestine presented similar anatomy to the total Hirschsprung′s disease.However, the ganglion was observed not only in the stricture, transitional and dilated zone of ileum, but also in the colon.There were no significant differences in the pregnancy and birth weight in both groups(P>0.05), but there was significant difference in the duration of hospitalization [(21.19±5.13) d vs.(12.29±3.85) d, P=0.000]. There were complications in those patients who had undergone enterostomy, including wound infection (2 cases), prolapse of stoma (2 cases), water and electrolyte disorders (2 cases), malnutrition (21 cases). After the stoma closure, no signs of ganglion cell dysplasia were found in follow-up.In non-surgical group, there were 20 pre-term reonates and 1 full-term neonate, respectively.In surgical group, there were 22 pre-term reonates and 2 full-term neonate, respectively.Neither pregnancy nor birth weight was related to the choice of treatment (P>0.05), but the time when to be admitted was highly related to the choice of treatment (P<0.05).@*Conclusions@#It is not rare for the occurrence of SMI in neonates in China, especially in preterm neonates.Amiotol may have effects not only on diagnosis but also on treatment of SMI, which can be applied repeatedly.Non-surgical treatment can help most of the neonates with SMI to avoid surgical exploration.Enhancing apprehension about the SMI may have great advantages to decrease the rate of unnecessary laparotomy.

Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction / 대한소아소화기영양학회지

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.

Diagnosis and treatments in simple meconium ileus in neonates:ten_year experience in a single center / 中华实用儿科临床杂志

Objective To improve the accuracy of the diagnosis and decrease the unnecessary surgical explo_ration in neonates with simple meconium ileus(SmI)by analyzing clinical characteristics of SmI. Methods Forty_five neonates identified as SmI from January 2008 to may 2018 had been collected,and the data of pregnancy,birth weight,treatments,hospital stay and results of follow_up were included. The patients were divided into 2 groups:surgi_cal group and non_surgical group. The surgical group underwent enterostomy at the end of ileum,meanwhile,the intes_tinal wall was biopsied for checking the existence of ganglion cells. All the neonates in the surgical group underwent sto_ma closure in 3 to 6 months postoperatively. The non_surgical group received fasting,intravenous nutritional support, enema with amiotol diluted into 1: 1 or injected into the stomach by the gastric tube. They all received enema with warm salt(9 g/L)1_2 times per day. Once the abdominal dilation was mitigated and autonomous defecation obtained, the neonates gradually began the oral feeding and weaned from the total parenteral nutrition( TPN). The 45 neonates were also divided into earlier group(from January 2008 to may 2013)and later group(from June 2013 to may 2018) according to the time of diagnosis. The relationships between the SmI treatment choice and the pregnancy,birth weight and time of diagnosis were analyzed. Results No cystic fibrosis lesions were found in 45 neonates,of which 21 and 24 neonates were in non_surgical group and surgical group,respectively. In the operation,the intestine presented similar anatomy to the total Hirschsprung＇s disease. However,the ganglion was observed not only in the stricture,transitional and dilated zone of ileum,but also in the colon. There were no significant differences in the pregnancy and birth weight in both groups(P>0. 05),but there was significant difference in the duration of hospitalization[(21. 19 ± 5. 13)d υs. (12. 29 ± 3. 85)d,P=0. 000]. There were complications in those patients who had undergone enterostomy,including wound infection(2 cases),prolapse of stoma(2 cases),water and electrolyte disorders(2 cases),malnutrition(21 cases). After the stoma closure,no signs of ganglion cell dysplasia were found in follow_up. In non_surgical group, there were 20 pre_term reonates and 1 full_term neonate,respectively. In surgical group,there were 22 pre_term reonates and 2 full_term neonate,respectively. Neither pregnancy nor birth weight was related to the choice of treat_ment(P>0. 05 ),but the time when to be admitted was highly related to the choice of treatment( P <0. 05 ). Conclusions It is not rare for the occurrence of SmI in neonates in China,especially in preterm neonates. Amiotol may have effects not only on diagnosis but also on treatment of SmI,which can be applied repeatedly. Non_surgical treat_ment can help most of the neonates with SmI to avoid surgical exploration. Enhancing apprehension about the SmI may have great advantages to decrease the rate of unnecessary laparotomy.

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.

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.

Peritonitis Meconial y Fibrosis Quística / Meconium peritonitis and cystic fibrosis

La fibrosis quística (FQ) es una enfermedad génetica autosómica recesiva causada por más de 600 mutaciones conocidas del gen que codifica para la proteína de la membrana: Regulador de la membrana F.Q (CFTR). Es una enfermedad que en el período neonatal puede manifestarse por distres respiratorio, colestasis intrahepática e íleo meconial. Presentamos el caso de un recién nacido del sexo masculino, parto por cesárea, en quien se sospechó el diagnóstico de FQ. En ecografías prenatales se apreciaron signos de peritonitis meconial por íleo meconial. Fue intervenido quirúrgicamente, encontrando que gran cantidad de fibrina cubría todas las asas intestinales con adherencias, presentando una perforación en la unión yeyuno ileal, segmento ocupado por meconio duro y compacto, realizando íleostomía. Presenta empeoramiento clínico y hemodinámico, con íctero colestásico, distrés respiratorio que va agravando hasta presentar signos de shock séptico y fallo multiorgánico, falleciendo a los seis días de edad. El estudio anátomo-patológico post-mortem fue compatible con FQ.

Cystic fibrosis (CF) is a genetic autosomal recesive disease caused by more than 600 known mutatins of the gene that codifies for the protein of the membrane: Regulator of the CF transmembrane (CFTR). It is a disease of the neonatalperiod that can be manifested by respiratory distress, intrahepatic cholestasis and meconium ileus. A case of amale newborn (throug a cesarean section delivery), suspecting the diagnosis of Cystic Fibrosis is reported. In prenatal echographies signs of meconium peritonitis due to meconium ileus was observed, the patient underwent a surgery where a great quantity of fibrin covering all intestinalloops with adherences showing a perforation inthe ileum jejune join was observed. The segment was filled with a hard andcompact meconium. An ileostomy was performed, then the patient presented a clinical and hemodynamic worsening with cholestatic jaundice and respiratory distress deteriorating his condition up to showing signs of septic shock and multiple-organ failure, dying at 6 days old. The post-mortem pathologic study matched with a cystic fibrosis.

A case of premature born with bowel perforation and gangrene due to intrauterine midgut volvulus caused by meconium ileus / 대한주산의학회잡지

Midgut volvulus is commonly complicated with malrotation, and develops mainly in infants before 1 year old, especially in neonate. Intrauterine midgut volvulus is an extremely rare disease therefore is difficult to diagnose. Furthermore unless the fetus has malrotation, symptoms and results of tests suspicious of fetal midgut volvulus are nonspecific. There are some reports that meconium ileus could be a cause of intrauterine midgut volvulus from foreign countries, however has never been reported in Korea. So we report a case of prematurity born with bowel perforation and gangrene due to intrauterine midgut volvulus caused by meconium ileus.

Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in Caucasians, but rare in Asians. The mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for CF. To date, less than 5 cases of CF have been reported and a few of them diagnosed based on the genotype of the CFTR gene in Korea. We encountered a 4-month-old Korean infant with CF and the diagnosis was confirmed by CFTR gene mutation analysis. The patient underwent surgical operation, due to meconium ileus at birth. He suffered by recurrent respiratory infections, failure to thrive, fatty liver with hepatomegaly, and cholestasis. The mutations of the CFTR gene were identified in the patient and his parents. The patient was a compound heterozygote with a nonsense mutation of c.263T>G, resulting in an amino acid change of p.Leu88X in exon 3. It was previously described in a Korean patient with CF. The other is a novel mutation; c.2089-2090insA mutation (p.Arg697LysfsX33) in exon 13. The mutation c.263T>G was inherited from his father, and the c.2089-2090insA mutation from his mother. Respiratory infection was recovered by supportive care, and cholestasis was improved slowly with sufficient feeding and supplementation of pancreatic exocrine enzymes. He is 19- month old now and shows catch-up growth. We report a novel CFTR mutation in a Korean infant with CF.

A case of cystic fibrosis presented with meconium ileus in a female neonate / 소아과

Meconium ileus (MI) is the earliest clinical manifestation of cystic fibrosis (CF) in infants. It arises from the intraluminal accumulation of highly viscid, protein-rich meconium, typically present in the terminal ileum as a neonatal intestinal obstruction. Therefore, the clinical symptoms include abdominal distension, bilious vomiting and delayed passage of meconium. CF is caused by mutations in the transmembrane conductance regulator gene (CFTR) located in the long arm of chromosome 7. CF is common in Caucacians, but is a rare disorder in Asian countries, including Korea. We experienced a case of CF combined with MI. Compared with the previous reports of CF in Korea which presented respiratory problems, this is the first case genetically diagnosed as CF with MI during the newborn period.

Meconium Ileus Combined with Pseudohypoaldosteronism Type Ⅰ in 1 Child / 实用儿科临床杂志

Objective To improve the recognition of meconium ileus and pseudohypoaldosteronism type Ⅰ and to explore the relationship between neonatal meconium ileus and cystic fibrosis.Methods The clinical and follow-up data of a premature infant with meconium ileus and pseudohypoaldosteronism type Ⅰ was analyzed.Relevant literature was reviewed.Results The child was a very low-birth weight premature infant who didn′t pass meconuim within 24 hours of birth and persistent abdominal distention was noted.Laparotomy was performed on day 4.Thick and inspissated meconium was found in the ileum with perforation.The atretic intestine was resected,and a double-barreled enterostomies was performed.On day 30,the child presented hyponatremia,hyperkalemia,high levels of plasma renin and aldosterone and was given 9 g/L salt supplementation.At 6-month age,9 g/L salt supplementation was discontinued.Anastomosis was performed at 8-month age.The child recovered with a good prognosis whose catch-up growth was obtained at 18-month age and didn′t pre-sent manifestations of cystic fibrosis.Conclusions This case could be diagnosed as meconium ileus and pseudohypoaldosteronism type Ⅰ.The relationship between neonatal meconium ileus and cystic fibrosis is different in China and the regions of Caucasian.

The Role of Interstitial Cells of Cajal in Congenital Megacolons and Idiopathic Megacolons

The etiology of several motility disorders, including persistent megacolon after definitive surgery for Hirschsprung's disease, meconium ileus which is not associated with cystic fibrosis and idiopathic megacolon, is still unclear. Interstitial cells of Cajal (ICC) are thought to modulate gut motility as gastrointestinal pace maker cells. The aim of this study was to evaluate the role of ICC in the bowel walls of the patients (n=15) who had variable motility disorders. The ICC were identified by immunohistochemical staining using an anti-C-Kit antibody and the results were compared with control specimens (n=2). The control group (G1) showed evenly distributed ICC in their bowel walls. The second group (G2, n=5) who had normal bowel movements after Duhamel procedures and the third group (G3, n=4) who had persistent megacolon after Duhamel procedures showed absent or scarcely distributed ICC in their aganglionic bowels. The ICC were identified by immunohistochemical staining using an anti-C-Kit antibody and the results were compared with control specimens (n=2). The control group (G1) showed evenly distributed ICC in their bowel walls. The second group (G2, n=5) who had normal bowel movements after Duhamel procedures and the third group (G3, n=4) who had persistent megacolon after Duhamel procedures showed absent or scarcely distributed ICC in their aganglionic bowels. Whereas ICC were evenly distributed in the ganglionic bowels of G2, they were not seen or scarecely distributed in the ganglionic bowels of G3. Two patients (G4) who suffered from idiopathic megacolon showed absence or decrease of ICC in spite of presence of ganglion cells in their colons. Four neonates (G5) who underwent ileostomy because of meconium obstruction showed absent or markedly decreased ICC in the colon at the time of ileostomy and the distribution of ICC was changed to a normal pattern at the time of ileostomy closure between 39-104 days of age and their bowelmotility were restored after that. The results suggest that lack of ICC caused reduce motility in the ganglionic colons and it may be responsible for the development of various motility disorders. Delayed maturity of ICC may also play a role in the meconium obstruction of neinates.

Prolonged survival following meconium ileus

A rare case is presented of a boy who is still alive 17 years after surgery for meconium ileus. Soon after the surgery the patient developed manifestations of pulmonary imvolvement and later, of pancreatic insufficiency. Diagnosis was made by means of the sweat testThe patients prolonged survival is attributed to adequate therapy of his relatively quiescent pulmonary lesion. With the good therapeutic program now available for the pulmonary lesion. With the good therapeutic program now available for the pulmonary complications, we should expect that a good number of the 50% who now survive surgery for meconium ileus will have the same chance at longer life span.(Summary)