A female infant who had both complete VACTERL association and MURCS association: report of a case.

A 41-day-old female infant with VACTERL association was transferred to the pediatric intensive care unit of our hospital. She had been delivered at 36 weeks gestation by spontaneous vaginal delivery and weighed 2340 g. Esophageal atresia type A with long gap, anal atresia, cardiac anomaly (atrial septal defect and patent ductus arteriosus), thoracic vertebral dysplasia, left renal agenesis, and minor anomalies (left-side facial nerve palsy, left-side difficulty in hearing, and the absence of the right thenar) had been diagnosed by various examinations. She was transferred to our hospital to receive treatment for heart failure due to a cardiac anomaly. We recognized vaginal atresia during a radical operation for anal atresia (rectovestibular fistula) at 8 months of age. Furthermore, magnetic resonance imaging (MRI) revealed agenesis of the uterus. MURCS association includes Mullerian duct aplasia or hypoplasia, renal aplasia, and cervicothoracic somite dysplasia. This is the first case of complete VACTERL association combined with MURCS association.

Long-term survival of a baby with body stalk anomaly: report of a case.

Body stalk anomaly is characterized by severe scoliosis, severe pulmonary hypoplasia, and giant omphalocele. The prognosis of the disease is poor and most obstetricians consider it fatal. Very few patients with body stalk anomaly survive. We report the case of a baby diagnosed with body stalk anomaly in fetal life, who was saved by intensive care after birth. We closed the giant omphalocele successfully by placing karaya gum sheets over it, which created a humidified environment and promoted natural skin epithelization over the skin defect.

Bizarre presentation of epigastric heteropagus: report of a case.

We report an unusual case of epigastric heteropagus in a female neonate. The parasite had a single lung as well as a liver, stomach, intestine, pancreas, ovaries, a single kidney, and a bladder. These visceral organs were located in the abdominal and pelvic space of the autosite, and the pelvic bone and lower legs of the parasite were fused with the respective organs in the autosite. The infant underwent operations to remove the central leg and some of the intra-abdominal organs of the parasite, but she must still undergo further surgery to remove the genitourinary organs and pelvic bones of the parasite, and repair her very abducted and rotated right leg.

Utility of an atraumatic self-retaining ring retractor in pediatric surgery.

The Protractor is a self-retaining ring retractor used mainly for minilaparotomies in adults. We report our positive results of using this retractor in pediatric surgery. We performed surgery with the aid of the Protractor in 57 pediatric patients aged from 1 day old to 16 years old. The Protractor allowed a wide operative view and did not cause any major complications. It was especially useful for Kasai's portoenterostomies and ureteroneocystostomy (Cohen's repair). In neonatal surgery, the Protractor not only provided a wide operative view, but also prevented the washing fluid from overflowing onto the covering sheet. In appendectomy, the Protractor protected the surgical wound from contaminated ascites and the appendix. The Protractor is a very useful tool for assisting with various abdominal operations in infants and children.

A case of intrapericardial diaphragmatic hernia with a massive pericardial effusion: fetal diagnosis and therapy.

Intrapericardial diaphragmatic hernia is a very rare phenotype of neonatal diaphragmatic hernia which is thought to be caused by the developmental failure of the septum transversum. There have been only 10 cases reported since 1980, and among them, only 2 cases were diagnosed in fetal life. We herein report a new case that was diagnosed in fetal life, and pericardiocentesis was performed at 27 weeks of gestation. This is the first case to undergo a fetal interventional therapy. After birth, the patient successfully underwent closure of the hernia, despite severe pulmonary hypoplasia.

A case of laryngeal atresia (congenital high airway obstruction syndrome) with chromosome 5p deletion syndrome rescued by ex utero intrapartum treatment.

The authors report a case of laryngeal atresia (congenital high airway obstruction syndrome [CHAOS]) that was diagnosed prenatally. The patient underwent successfully tracheostomy by ex utero intrapartum treatment (EXIT). The fetal ultrasonography and magnetic resonance imaging MRI showed a typical CHAOS pattern with expanded hyperechogenic lungs, inverted diaphragms, and a dilated trachea. Recently, 3 cases of prenatally diagnosed CHAOS were reported to be treated successfully by EXIT. The clinical manifestation and course of this case was not similar to these 3 cases. The 3 previous patients did not fare as well during gestation and were delivered earlier than that in our case. In our case, fetal hydrops was seen at 23 gestational weeks, but it gradually subsided and disappeared at 30 gestational weeks. The fetus was stable and well. After delivery at 39 weeks, the baby received respiratory assistance by ventilator assistance. After 3 days, she could breath well on her own. The patient also had chromosome 5p deletion syndrome and perineal groove. More experience in treating CHAOS cases with EXIT to fully estimate its clinical course and prognosis is needed.

Symptom predictability of reflux-induced respiratory disease.

Gastroesophageal reflux disease (GERD) often is associated with pulmonary problems such as asthma as well as recurrent and nocturnal cough. Dual-probe 24-hr pH monitoring may assist in establishing a correlation between these symptoms and GERD-related symptoms. To determine if any specific symptom was predictive of aspiration, this study was undertaken. Ambulatory dual-probe esophageal pH monitoring was performed on 133 patients who had upper airway and additional symptoms for GERD. All patients had esophageal manometric studies of the lower esophageal sphincter (LES), the upper esophageal sphincter (UES), and the esophageal body before dual-probe pH monitoring was performed. Using two assembled glass probes, the distal and the proximal sensors were placed 5 cm above the proximal border of the LES and 1 cm below the lower border of the UES, respectively. Patients were classified into three groups: proximal and distal probe positive (group I), proximal probe negative and distal probe positive (group II) and proximal and distal probe negative (Group III) Upper airway and additional symptoms plus manometry results of the LES, body and UES study were compared between groups. In addition, positive distal probe patients (groups I and II) were compared for distal fraction of time at pH < 4 and number of reflux episodes at each probe position. A positive distal probe result was defined as an abnormal DeMeester score (> 14.8). A proximal probe test result was considered positive if percent time pH < 4.0 was > 1.1 for total, 1.7 for upright, and 0.6 for supine positions. The ages of the subjects ranged from 18 to 83 years (mean age: 50.5 +/- 1.5 years). Groups I, II, and III included 16 patients, 38 patients, and 79 patients, respectively. Group I had a significantly higher incidence of nocturnal cough than the other two groups. (P < 0.05). The manometric data revealed between groups that LES pressure (LESP) for groups I and II was significantly lower than LESP for group III (P = 0.003). Cricoid pressure, pharyngeal pressure, length, and relaxation of UES were not different between groups. Fraction of reflux time for group I was significantly higher than for group II in the supine position and at mealtime (P < 0.05). The number of reflux episodes for group I was significantly higher at meal time (P < 0.01). In conclusion, nocturnal cough is strongly predictive of proximal esophageal reflux. Proximal reflux episodes are significantly more frequent in the supine position and correlate well with the high predictive value of nocturnal cough.