Prenatal diagnosis of isolated congenital pyloric atresia in a sibling.

Although familial occurrence of congenital pyloric atresia (CPA) has been frequently reported in the past, many of these cases were associated with epidermolysis bullosa (EB), and familial isolated CPA was a relatively rare condition. We prenatally diagnosed and successfully treated a sibling of a subject with isolated CPA, who was diagnosed prenatally by fetal ultrasonography based on the findings of a distended stomach combined with polyhydramnios. The first case was a 2398-g female infant born at 36 weeks of gestation, who had been prenatally diagnosed as CPA.

Radiographic changes in the diaphragm after repair of congenital diaphragmatic hernia.

Background/purpose: The growth and function of the repaired diaphragm have not been well elucidated, which may contribute to pulmonary function and chest wall deformity. We measured the lower lung diameter at the top of the diaphragm (LLD), diaphragmatic diameter (DD), and diaphragmatic height (DH) on the posteroanterior plain chest radiograph using a picture archive and communication system.

Methods: Thirty-six children aged 10.

Prenatal detection of pulmonary hypoplasia in giant omphalocele.

Respiratory insufficiency has sometimes been reported in giant omphalocele. To determine whether ultrasonic fetal lung measurements including lung/thorax transverse area ratio (L/T) and chest/trunk length ratio (C/T) may be useful in predicting associated pulmonary hypoplasia, 28 fetuses with abdominal wall defects between 1991 and 2003 were reviewed. Nine patients with gastroschisis and 19 with omphalocele were classified into three groups.

Relationship between L/T ratio and LHR in the prenatal assessment of pulmonary hypoplasia in congenital diaphragmatic hernia.

The lung to thorax transverse area ratio (L/T ratio) and the lung area to head circumference ratio (LHR) have been widely used for the assessment of pulmonary hypoplasia in fetal congenital diaphragmatic hernia (CDH). The aim of this study was to evaluate the relationship between the L/T ratio and the LHR, and to clarify the characteristics of these two indicators as prognostic predictors by means of retrospective concurrent measurements from the same subjects with prenatally diagnosed fetal CDH. The medical records of 55 fetuses who had undergone a prenatal evaluation of isolated CDH from 1988 to 2006 were studied.

Long-term outcome in patients with prenatally diagnosed cystic lung disease: special reference to ventilation and perfusion scan in the affected lung.

Background/purpose: The natural history of cystic lung disease (CLD) such as congenital cystic adenomatoid malformation (CCAM) and pulmonary sequestration has been altered by the advent of prenatal diagnosis. Although recent advances including fetal therapy have gradually improved outcome, the long-term course and the function of the residual lung have not been well clarified.

Methods: Twenty-two patients with CLD who had been prenatally diagnosed and treated between 1990 and 2004 were reviewed.

Long-term follow-up of patients with high-risk congenital diaphragmatic hernia.

Background/purpose: Recent advances including prenatal diagnosis, high-frequency oscillatory ventilation, and nitric oxide inhalation therapy have gradually improved the survival of high-risk congenital diaphragmatic hernia. However, the factors affecting the long-term outcome of these patients have not been well established.

Methods: Thirty-three children with ages 4.

Adrenomedullin is up-regulated in nitrofen-induced fetal pulmonary hypoplasia.

Background/purpose: Pulmonary hypoplasia associated with congenital diaphragmatic hernia remains a major therapeutic problem. Adrenomedullin (AM), a multifunctional regulatory peptide, has been suggested to play a role in the mechanisms of fetal lung differentiation and maturation. The aim of this study was to investigate the pulmonary expression of AM in nitrofen-induced fetal pulmonary hypoplasia.

Application of memory metallic stents to urinary tract disorders in pediatric patients.

The use of memory metallic stents for the urinary tract in pediatric patients has not been reported. The authors report on 2 patients with urinary tract disorders who were successfully treated with a memory metallic stent. A thermoexpandable, nickel-titanium alloy stent was placed at the urethroureteral junction of a 4-year-old boy with ureteral stenosis associated with cloacal exstrophy for 18 months and at the urethra of a 2-year-old girl with ischuria after a repair of cloacal anomaly for 6 months.

Assessment of obstructive apnea by using polysomnography and surgical treatment in patients with Beckwith-Wiedemann syndrome.

Purpose: Obstructive apnea is sometimes seen in patients with Beckwith-Wiedemann syndrome. The cause of apnea is not limited to macroglossia, and the surgical indication for obstructive apnea has not yet been established. The authors performed polysomnography for the assessment of apnea.

Surgical management for posterior laryngeal cleft developing subglottic airway obstruction.

A 3-year-old boy associated with Opitz syndrome including hypospadias and anorectal anomaly was transferred to Osaka University Hospital with orotracheal intubation because of respiratory distress after respiratory infection. He had laryngeal cleft diagnosed in the neonatal period because of symptoms including stridor and aspiration. After 2 attempts at extubation, tracheostomy was performed.

A novel association of alveolar capillary dysplasia and duodenal atresia with paradoxical dilatation of the duodenum.

Background/purpose: The authors experienced 3 cases of persistent pulmonary hypertension of the neonate (PPHN) associated with duodenal atresia with paradoxical dilatation of the distal blind end of the duodenum. The aim of this study was to clarify the characteristics of this novel association.

Methods: The medical charts of the patients were reviewed retrospectively.

Outcome predictors for infants with cystic lung disease.

Background/purpose: This study aimed at identifying characteristic features indicating congenital cystic adenomatoid malformation of the lung (CCAM) and evaluating the outcome predictors to identify prenatally subgroups of fetuses with significantly different probabilities of mortality or severe respiratory difficulty.

Methods: Twenty-eight neonates who had undergone antenatal evaluation for cystic lung disease (CLD) were reviewed retrospectively. The patients were divided into 3 groups according to the severity of their clinical course; mild (n = 7), moderate (n = 13), and severe (n = 8).

Is adrenomedullin involved in the pathophysiology of persistent pulmonary hypertension of the newborn?

Although adrenomedullin (ADM) is a potent vasodilating peptide reported to play a possible role in the mechanisms of fetal lung differentiation and maturation, the ADM blood level in fetuses and in neonates with persistent pulmonary hypertension (PPHN) and pulmonary hypoplasia is not known. Therefore, we examined 15 patients with PPHN: 10 with congenital diaphragmatic hernia, four with congenital cystic adenomatoid malformation of the lung, and one with misalignment of pulmonary vessels with alveolar capillary dysplasia. Eight surgical patients with neonatal conditions such as intestinal atresia served as controls.

Scimitar syndrome treated with pneumonectomy: a case associated with bronchospastic attack.

Scimitar syndrome, which involves total or partial anomalous venous drainage of the right lung to the inferior vena cava, is relatively rare and often results in pulmonary hypertension, heart failure and right lung infection. We report here the case of a 1-year-old girl who suffered repeated attacks of bronchospasm after developing pneumonia. She underwent resection of the hypoplastic right lung and showed rapid recovery.

Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus.

Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, small palpebral fissures, Pierre Robin sequence, abnormal ears, and cardiac defects. We report a boy who has some additional findings, including a severe respiratory failure and intestinal dysmotility. The boy died of these two disorders at age 13 months.

Umbilical cord ulcer associated with fetal jejunal atresia: report of 2 cases.

We report 2 cases of umbilical cord ulcer associated with fetal jejunal atresia. Both of them developed a severe intrauterine hemorrhage, followed by fetal heart rate decelerations, and underwent emergency cesarean section. Bloody amniotic fluid and umbilical cord ulcers were observed in both cases.

Ultrasonographic prediction of clinical pulmonary hypoplasia: measurement of the chest/trunk-length ratio in fetuses.

Pulmonary hypoplasia is involved in patients with various surgical diseases. The aim of this study was to evaluate the clinical usefulness of measurement of the chest/trunk-length ratio (C/T) for predicting pulmonary hypoplasia in patients with congenital anomalies, with the exception of mass-like lesions in the thorax such as diaphragmatic hernia and cystic lung diseases. For measurement of C/T on fetal ultrasound, the sagittal section of the body trunk, including the spine, was analyzed.

Fetal mesenchymal hamartoma of the liver: report of a case.

The authors report a case of hepatic mesenchymal hamartoma diagnosed prenatally with ultrasound scan and magnetic resonance imaging (MRI) and confirmed histologically postdelivery. The fetus had a multicystic mass in the left upper abdomen, which showed a rapid enlargement accompanying maternal hypertension and preterm labor. The patient was delivered by cesarian section at 30 weeks and 5 days weighing 1,190 g, and, at birth, a large abdominal mass and severe anemia were noted.

Case of congenital bronchial atresia detected by fetal ultrasound.

Congenital bronchial atresia is an anomaly characterized by a mucocele associated with a blindly terminating segmental or lobar bronchus. We report on a case of congenital atresia of the left superior segmental bronchus (B6) followed by fetal ultrasonography, which showed a large simple cyst with a surrounding small echogenic area. A large cyst and persistent lung fluid in the affected segment were noted in the early neonatal period.

Usefulness of endoscopic ultrasonography in the diagnosis of congenital esophageal stenosis.

Background/purpose: Endoscopic ultrasonography (EUS) is considered a potentially useful tool to investigate structural abnormalities of the esophagus in pediatric patients, as in adults. The aim of this study was to evaluate the usefulness of EUS for the diagnosis of congenital esophageal stenosis.

Methods: High-frequency catheter probe EUS was performed under general anesthesia in 2 patients who had congenital esophageal stenosis.