Intususcepción intestinal en el contexto de una apendicitis aguda / Intestinal intussusception in the context of acute appendicitis: a case report and lit-erature review

Introducción: La intususcepción es una patología abdominal idiopá-tica o secundaria a procesos intesti-nales que actúan como puntos de partida para la invaginación. Se han descrito casos de arrastre de estruc-turas que derivan en otros procesos inflamatorios como la apendicitis aguda. Caso clínico: Niño 3 años, con dolor abdominal de 6 horas de evolución. Al examen físico se pre-senta pálido, somnoliento, taqui-cárdico y deshidratado. El abdo-men con signos apendiculares posi-tivos, con palpación en masa en fosa iliaca derecha. Taller diagnóstico: Leucocitos 9690 u/mm3, neutrófilos 58.1%. Ecografía con imagen sugerente de intususcepción intestinal con cam-bios inflamatorios en la grasa me-sentérica. Se realiza tomografía abdominal que reporta intususcep-ción ileocolónica de 47 x 50 mm, con múltiples ganglios reactivos mesentéricos, con imagen apendicu-lar en dirección pélvica, con apendi-colito en su interior. Evolución: El manejo quirúrgico incluyó una laparotomía explorato-ria con desinvaginación manual y apendicectomía convencional. El reporte de patología fue apendicitis aguda supurativa. El paciente 48 horas hospitalizado, recibió Ampici-lina + Sulbactam y analgesia. Al mejorar la función abdominal fue dado de alta. Conclusiones: En este caso la apendicitis aguda fue la causa de intususección intestinal con el signo ecográfico de la "diana" en un paciente de 3 años de edad.

Introduction: Intussusception is an idiopathic abdominal pathology or secondary to intestinal processes that act as starting points for intussusception. Cases of dragging of structures that lead to other inflammatory processes, such as acute appendicitis, have been described. Clinical case: 3-year-old boy with abdominal pain of 6 hours of evolution. On physical examination, he appears pale, drowsy, tachycardic, and dehydrated. The abdomen with positive appendiceal signs, with palpation of a mass in the right iliac fossa. Diagnostic workshop: leukocytes 9690 u/mm3, neutrophils 58.1%. Ultrasound with image suggestive of intestinal intussusception with inflammatory changes in the mesenteric fat. An abdominal tomography was performed that reported ileocolonic intussusception of 47 x 50 mm, with multiple mesenteric reactive nodes, an appendicular image in the pelvic direction, and an appendicolith inside. Evolution: Surgical management included an exploratory laparotomy with manual evagination and conventional appendectomy. The pathology report was acute suppurative appendicitis. The patient was hospitalized for 48 hours and received Ampicillin + Sulbac-tam and analgesia. When abdominal function improved, he was discharged. Conclusions: In this case, acute appendicitis was the cause of intestinal intussusception with the ultrasound sign of the "target" in a 3-year-old patient.

Fetal echocardiography audit in a tertiary hospital in Ibadan, Nigeria

Delayed detection of congenital heart diseases in low- and middle-income countries (LMICs) contributes to the poor outcome of infants with cardiac anomalies. Fetal echocardiography (FE) can detect heart defects in-utero as early as the 18th gestational week (GA), giving parents and medical professionals time to prepare for the baby's delivery and appropriate treatment. University College Hospital, Nigeria, is one of the few centres in Nigeria where FE is performed. Objectives: To examine the indications for referral for FE and the diagnoses made in our first four years of performing FE. Methods: FE was performed in the antenatal clinic of the University College Hospital, Ibadan, Nigeria, using the GE Voluson P6 machine with a 2-6-RS probe. Demographic information was obtained from the antenatal clinic records of the women who had FE using a semi-structured questionnaire. FE diagnoses were retrieved from the FE register. Results: A total of 129 women whose records were available were studied. The mean age of the women was 31.7±5.5 years. Forty-two women (32.6%) were referred because of echogenic foci, making this the most common indication for FE. Twenty-nine (22.5%) fetuses had structural heart defects, the most common being Ventricular Septal Defect. Conclusion: There is a need for Obstetricians and Paediatricians to be aware of the indications for fetal echocardiography and refer women appropriately

Second-trimester fetal genetic ultrasonography to detect chromosomal abnormalities

Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.

Mid-trimester hyperechogenic bowel in a fetus of Turkish origin carrying a rarely seen mutation of cystic fibrosis

Cystic fibrosis [CF] is one of the most common severe autosomal recessive genetic disorders, characterized primarily by chronic obstructive lung disease and maldigestion disorder. The disease is caused by mutations in the CF transmembrane conductance regulator [CFTR] gene. Here we present a case of a fetus with hyperechogenic bowel, in which compound heterozygosity was established for the mutations p.IIe1000fsX1001 and p.Asp110His subsequent to amniocentesis. The mutations were most likely disease-causing, and pregnancy was terminated

A Case of Congenital Cytomegalovirus Infection with Severe Hydrocephalus in Prenatal Ultrasonography / 대한산부인과학회잡지

Cytomegalovirus (CMV) infection is one of the most common viral infections in human and it is known to cause primary and recurrent infections. CMV is spread to the fetus in 40% of pregnancies in primary infection, while 0.5-1% of pregnancies in recurrent infection are known to cause congenital infections. Only 10% of such infections are presented with severe symptoms, with the other 90% being asymptomatic. However, there are no definite methods to predict the manifestation of fetal infections or specific treatments in such cases. Intraventricular calcification, ventriculomegaly, intraventricular adhesion, abnormal patterns of brain fissures, brain atrophy, abnormal findings of cerebellum and cisterna magna, and hyperechoic bowels can be presented by ultrasonography in CMV infection. We introduce a case of CMV infection presented as ventriculomegaly and hyperechoic bowels by ultrasonography and pathologically confirmed by autopsy.

Ultrasound Screening for Fetal Down Syndrome in the Second Trimester of Pregnancy / 대한산부인과학회잡지

OBJECTIVE: To determine the risk of Down syndrome in fetuses with sonographic markers using the likelihood ratios and individual risk assessment. METHODS: We retrospectively evaluated the midtrimester genetic sonographic features of fetuses with Down syndrome and compared them with euploid fetuses. Patients were referred for an increased risk of aneuploidy and evaluated for the presence of structural defects, a nuchal fold, short long bones, pyelectasis, brachycephaly, small stomach, and hyperechoic bowel. Outcome information included the results of genetic amniocentesis (if performed), the results of pediatric assessment, and follow-up after birth. The sensitivity, specificity, and likelihood ratios for markers ware calculated isolated findings. RESULTS: There were 59 fetuses with Down syndrome and 600 euploid fetuses. The presence of any marker resulted in sensitivity for the detection of Down syndrome of 86.4% with a false-positive rate of 13.6%. Structural defect had a likelihood ratio of 77.8. As an isolated marker, the nuchal fold, short humerus, short femur, echogenic bowel and renal pyelectasia has a likelihood ratio of 20.2, 12.7, 3.9, 2.5, 1.1 respectively. Other isolated markers had low likelihood ratios because of the higher prevalence in the unaffected population. CONCLUSION: Combining second-trimester serum testing and fetal sonography is a feasible approach to Down syndrome screening, compatible with current obstetric practice. Although an isolated marker with a low likelihood ratio may not increase a patient's risk of Down syndrome, the presence of such a marker precludes reducing the risk of aneuploidy. This information will be useful in counseling pregnant women who are at high risk for fetal Down syndrome and who prefer to undergo genetic sonography before deciding about genetic amniocentesis.

Ultrasound Screening for Fetal Down Syndrome in the Second Trimester of Pregnancy / 대한산부인과학회잡지

OBJECTIVE: To determine the risk of Down syndrome in fetuses with sonographic markers using the likelihood ratios and individual risk assessment. METHODS: We retrospectively evaluated the midtrimester genetic sonographic features of fetuses with Down syndrome and compared them with euploid fetuses. Patients were referred for an increased risk of aneuploidy and evaluated for the presence of structural defects, a nuchal fold, short long bones, pyelectasis, brachycephaly, small stomach, and hyperechoic bowel. Outcome information included the results of genetic amniocentesis (if performed), the results of pediatric assessment, and follow-up after birth. The sensitivity, specificity, and likelihood ratios for markers ware calculated isolated findings. RESULTS: There were 59 fetuses with Down syndrome and 600 euploid fetuses. The presence of any marker resulted in sensitivity for the detection of Down syndrome of 86.4% with a false-positive rate of 13.6%. Structural defect had a likelihood ratio of 77.8. As an isolated marker, the nuchal fold, short humerus, short femur, echogenic bowel and renal pyelectasia has a likelihood ratio of 20.2, 12.7, 3.9, 2.5, 1.1 respectively. Other isolated markers had low likelihood ratios because of the higher prevalence in the unaffected population. CONCLUSION: Combining second-trimester serum testing and fetal sonography is a feasible approach to Down syndrome screening, compatible with current obstetric practice. Although an isolated marker with a low likelihood ratio may not increase a patient's risk of Down syndrome, the presence of such a marker precludes reducing the risk of aneuploidy. This information will be useful in counseling pregnant women who are at high risk for fetal Down syndrome and who prefer to undergo genetic sonography before deciding about genetic amniocentesis.