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The present authors report the first case of Beare-Stevenson syndrome in Taiwan. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent eyes, cleft palate, ear defects and a protruding umbilical stump. Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --G mutation on nucleotide 1303 of the FGFR2 cDNA. This mutation leads to a Tyr --Cys substitution at residue 375 located at the N-terminal end of the transmembrane domain of FGFR2. The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.

Acute appendicitis is the most common surgically amenable cause of acute abdominal pain in children. We analyzed our past experience of appendectomies in children and present the clinical characteristics of appendicitis in children younger than 3 years of age. A better understanding of appendicitis in early childhood would allow us to achieve an earlier diagnosis.A group of 475 children from 4 months to 15 years of age who underwent appendectomy for appendicitis was studied over a 5-year period from July 1994 to June 1999. Excluding cases with negative pathological findings (n = 34), they were divided into 2 age groups: group I (or = 3 years old) and group II (3 years old). Medical records were reviewed and comparisons between clinical findings, laboratory data, pathology findings, and complications were made.Of 441 cases enrolled in our study, 24 (5.4%) were 3 years of age or younger. Of all children older than 3 years of age, 32 (7.1%) had negative pathological findings compared to children younger than 3 years of age (7.7%). The duration of symptoms prior to diagnosis in group I was 3.6 days compared to group II at 2.0 days. Children from group I frequently showed a higher incidence of fever (90% vs. 53.4%), abdominal distention (50% vs. 9.8%), perforation (50% vs. 40.1%), and missed first impression (29% vs. 2.4%) than those from group II. Children of group I also had a higher complication rate (41.7% vs. 11.5%).In early childhood the symptoms and signs of appendicitis usually are nonspecific. There is a longer duration before diagnosis, more instances of fever and abdominal distention, less right lower quadrant pain, less local tenderness and rebounding pain, and no obturator sign. Close observation and on-going evaluation of patients are essential.

We reviewed the histories of four children (2 boys and 2 girls, aged 6 mo to 10 yr) with surgically proven bezoars, treated from 1991 to 1998. Two had gastric bezoars and two had intestinal bezoars. All four patients presented with gastrointestinal symptoms and none had undergone previous surgery. Three had a history of abnormal ingestion, including one who ate a pickled fruit from the Boraginaceae (locally known as Po-pu-tsu) plant for 1 year. Plain radiographs revealed intestinal obstruction in all four patients. Abdominal sonography disclosed a hyperechoic band-like lesion and acoustic shadow in both cases of gastric bezoar, and these bezoars were subsequently confirmed by gastric endoscopy. Lower gastrointestinal studies showed obstruction considered most likely to be due to bezoar in one case, while computed tomography (CT) revealed a characteristic small bowel mottled gas pattern in another. Surgical treatment relieved obstruction in all four patients. Bezoar should be suspected in patients with intestinal obstruction who have a history of ingestion of unusual substances. The findings of this report suggest that sonography and endoscopy are useful in the diagnosis of gastric bezoar, while CT is useful in the detection of intestinal bezoar.

Hypertrophic pyloric stenosis is commonly seen in infants 2 to 4 weeks old. We report a case of pyloric stenosis diagnosed in a boy 5 months and 11 days old suffering from the sudden onset of vomiting. Gastric volvulus was initially diagnosed at another hospital. Abdominal ultrasonography at first using an Acuson 5-MHz transducer revealed a negative diagnosis. However, a tubular pyloric mass measuring 5.5 mm in thickness, 15 mm in the transverse diameter, and 2.0 cm in length was detected by a 7-MHz transducer immediately after the infant vomited. On physical examination, no abdominal mass was palpable. This suggested that this might have been a case of hypertrophic pyloric stenosis which was missed until the infant was older than 5 months. We believe this is the oldest reported case of infantile hypertrophic pyloric stenosis in Taiwan.

Airway intubation injuries occur frequently but are often neglected because of spontaneous regression. Although most airway injuries that result from intubation resolve without sequelae, severe complications can develop even when initial symptoms of upper airway obstruction are absent. This retrospective study assessed the clinical features, flexible bronchoscopic findings, and clinical outcomes in children with airway intubation injuries.From February 1998 to February 1999, 90 children underwent flexible bronchoscopic examination in our hospital. Fifteen of these patients (6 girls, 9 boys; age range, 1 mo to 5 yr; mean, 21.1 +/- 24.4 mo) were noted to have intubation injuries.The average time for symptoms to emerge after extubation was 1.8 days (range, 0-14 days). The airway intubation injuries diagnosed by flexible bronchoscopy were subglottic stenosis in seven patients, vocal cord granulation in four, supraglottic granulation in two, subglottic web in two, bronchial granulation in two, glottic stenosis in one, and tracheal stenosis in one; two cases were discovered incidentally during postoperative follow-up. Four patients had undergone repeated intubation and eventually required tracheostomy.The results of this study indicate that flexible bronchoscopy is a simple, safe, and useful technique for the diagnosis and follow-up of airway intubation injury. It should be performed on all patients who have symptoms of upper airway obstruction after extubation as well as those who have undergone long-term or emergency intubation.

Toxic megacolon is a complication that usually presents in inflammatory bowel disease such as ulcerative colitis or Crohn's disease. It also occurs in typhoid fever, acute bacillary dysentery, amebic colitis, ischemic colitis, pseudomembranous colitis and severe salmonellosis. This report describes the occurrence of toxic megacolon in two young children with Salmonella colitis manifesting as abdominal distension, diarrhea and fever. The clinical course of these two cases suggests that toxic megacolon is a severe complication of salmonellosis in children, irrespective of the use of antibiotics. In the light of its paucity in children and severity, accurate diagnosis and appropriate intensive medical-surgical management is essential.

In view of cytokine's effects in promoting or inhibiting inflammation, the objective of this study was to explore the characteristics of the proinflammatory cytokine, interleukin-8 (IL-8), and the inhibitory cytokine, interleukin-10 (IL-10), in the bronchoalveolar lavage (BAL) fluid of premature infants suffering from respiratory distress disease. Eighteen premature neonates with respiratory distress disease with gestational age (GA) ranging from 24 to 37 weeks were recruited for study. BAL fluids were collected following endotracheal intubation during an episode of hypoxemia or dyspnea. A series of BAL samples were obtained on day 1, 2, 4 and 7 after intubation for measuring IL-8 and IL-10 levels. The results indicate that premature infants with GA ranging from 24 to 32 weeks had a higher level of IL-8 (p = 0.029), but not level of IL-10 (p = 0.109), in the BAL obtained during the first intubation compared to premature infants with GA ranging from 33 to 37 weeks. The administration of exogenous surfactant did not influence the profiles of IL-8 and IL-10, as compared to those in-patients without treatment. Levels of IL-8 were correlated with IL-10 levels (r = 0.613, p = 0.007) in BAL fluid samples obtained on the day of intubation. The level of IL-8, but not IL-10, was significantly correlated with the duration of intubation. IL-8 and IL-10 levels in BAL fluid samples collected on the day of intubation were correlated with the development of chronic lung disease (CLD). The results suggest that extreme prematurity tends to have increased IL-8 and IL-10 levels in BAL fluid compared to premature infants with older GA, and that these increased levels are associated with the development of CLD.

Vascular rings are a diagnostic and therapeutic challenge for pediatricians. Many diagnostic modalities contribute to the detection of these rare congenital vascular anomalies. The role of flexible bronchoscopy is still being debated. We present 3 cases to emphasize the usefulness of pediatric flexible bronchoscopy (PFB) in the early diagnosis and postoperative evaluation of vascular rings. In patient 1, PFB was performed before conventional techniques were available. A right aortic arch with a retroesophageal aortic diverticulum and mirror-image branching was later confirmed. In patients 2 and 3, pulmonary artery slings could not be detected clearly by imaging studies before PFB was performed. PFB was arranged again postoperatively for these 2 patients, because of difficulty weaning patient 2 from ventilator support and persistent respiratory distress in patient 3. In conclusion, we expect that more vascular rings will be diagnosed using PFB. This instrument is also useful in making a decision for surgery, and for detecting associated tracheobronchial anomalies preoperatively, assuring appropriate correction intraoperatively, and monitoring the condition of vascular rings postoperatively.

A cystic hygroma was found in a full-term (39 week-old) male newborn delivered by cesarian section. Polyhydramnios was diagnosed by sonography at 21 weeks of gestation. Clinical manifestations at birth, such as respiratory distress, tachypnea and chylothorax were successfully relieved by the insertion of chest tube and medical therapy. Other conditions, which included mild hydronephrosis of left kidney, thickening of aortic and pulmonary valves with mild mitral and tricuspid valves regurgitation, subsided within six months. The cystic hygroma regressed to a webbed neck. In general, the features and clinical manifestations of the present case resembled the criteria of Noonan syndrome including various congenital heart defects; webbed neck; chest deformity; a characteristic facial appearance comprising of a broad forehead, ocular hypertelorism, antimongoloid slant of palpebral fissures, low set ears; and bilateral undescended testis etc., suggested by Noonan and other subsequent authors. The outcome of this infant was satisfactory following medical and surgical therapy (chest tube, orchiopexy) and a special dietary regimen.

Spleen rupture has been a rare but feared complication in patients with infectious mononucleosis. There have been many cases reported during the last decade. However, it has rarely been mentioned among the young infant group. Here, we present a case of an infant, two months of age, who suffered from spleen rupture due to infectious mononucleosis, and was latter cured by himself under conservative treatment.

Recognition of rejection and other hepatic complications by needle biopsy plays a significant role in the management of liver allograft recipients. In this report, 22 pediatric patients (below 18 years old) were selected from the 37 liver transplants. Seven of the 22 cases have an uneventful posttransplant course. The most common cause of allograft injury in these patients appeared to be acute cellular rejection. It occurred in 7 (31.8%) of the 22 cases and was the primary process in 8 of the 25 episodes of liver dysfunction. Other etiologies, such as opportunistic viral infection (3 cases), biliary obstruction (2 cases), preservation injury (1 case), and vascular obstruction (1 case) were less common. Acute graft rejection causing liver dysfunction was associated with a mixed portal inflammation, destruction of the interlobular bile ducts, and varied degree of venous endotheliitis, followed by centrilobular hepatocyte necrosis. Chronic rejection was not seen in our pediatric cases. Cold ischemic injury causing transient graft dysfunction as seen in one of our patients demonstrated focal, limited areas of hepatocyte necrosis, mild centrilobular hepatocyte ballooning, and cholestasis without evidence of bile duct damage. More severe ischemic injury resulted from vascular complication causing diffuse hepatocyte necrosis was seen in one patient with hepatic vein thrombosis. The histologic patterns observed were not pathognomic; however, liver biopsies were helpful in suggesting the probable cause of liver dysfunction and in predicting subsequent allograft recovery when used in conjunction with clinical information, radiologic, and other laboratory tests.