Pediatric sigmoid colonic perforation with Campylobacter enterocolitis: a case report and review of the literature.

BACKGROUND: Campylobacter-related infectious gastroenteritis is common and usually self-limited. Intestinal perforation is a rare complication of the infectious colitis caused by Campylobacter, and only handful of cases have been reported. This is the first published case report of pediatric Campylobacter intestinal perforation located in the sigmoid colon. CASE PRESENTATION: A 15-year-old previously Taiwanese healthy boy presented with 5 days of fever up to 39.8 °C, with right lower quadrant abdominal pain and watery diarrhea. Although he received antimotility agents and antipyretics at a local clinic to relieve symptoms, he came to the emergency department with signs of shock manifesting as hypothermia to 35.2 °C, tachycardia, and low blood pressure. Laboratory testing demonstrated leukocytosis with left shift and significant elevation of C-reactive protein. Stool and blood cultures were obtained, and he was admitted for fluid challenge and antibiotic treatment. On the second day of admission, he suffered from sudden onset of severe, diffuse abdominal pain. Physical examination revealed muscle guarding, rebounding tenderness, and silent bowel sound. Abdominal X-ray showed subdiaphragmatic free air at standing view. The patient underwent emergent exploratory laparotomy, which revealed sigmoid colon perforation about 0.5 cm. Enterolysis and repair of sigmoid colon were performed. Intraoperative stool specimen nucleic acid amplification testing had turned positive for Campylobacter spp. with negative results for other bacterial pathogens. His symptoms improved and he tolerated food well, and was discharged 15 days after admission. CONCLUSIONS: We present this case because of the rarity of Campylobacter-induced sigmoid colon perforation in the pediatric population. It is important to keep in mind that sigmoid colon perforation can be due to an infectious cause, and one of the culprits can be Campylobacter. Infectious colitis caused by Campylobacter spp. should be managed cautiously and the use of antimotility agents in such conditions should be considered judiciously.

Congenital generalized lipodystrophy in Taiwan.

BACKGROUND: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenotype and prognosis of CGL in our cohort. METHODS: Patients diagnosed with CGL from 8 medical centers were reviewed. The initial presentation, laboratory findings, and molecular testing were retrospectively analyzed. RESULTS: A total of 16 patients were analyzed, and the current median age was 3.5 years (range, 9 months-17.5 years). In all patients, molecular results confirmed BSCL2 mutation. c.782dupG (p.Ile262Hisfs*12) was the most common genotype identified. All patients had triangular faces and muscular hypertrophy. In addition, 75% presented with hepatomegaly, 19% had cardiomegaly, and 44% exhibited acanthosis nigricans. Developmental delay was noted in 5 out of 9 patients (56%) with a median developmental quotient (DQ)/intelligence quotient (IQ) of 61. Thirteen patients (81.3%) had high triglyceride levels. Eight patients received leptin analysis, and 7 of them (88%) had low leptin levels. One patient exclusively received a lipid-lowering drug, 4 patients were exclusively placed on a fat-restricted diet, 5 patients were administered combination therapy, and 5 patients received no treatment. Three patients (19%) who developed diabetes mellitus received both oral hypoglycemic agents and insulin. Three patients (19%) experienced loss of ambulation and died prematurely. CONCLUSION: Our findings highlight the uniqueness of the genotype and phenotype in our cohort. Further long-term surveillance for comorbidities is necessary for early detection and management of these patients.

Effectiveness of the IMFeD tool for the Identification and Management of Feeding Difficulties in Taiwanese children.

BACKGROUND: The Identification and Management of Feeding Difficulties (IMFeD™) tool was introduced in 2011 for management of children with feeding difficulties and has been used in various countries around the world. This study aimed to assess its acceptance and effectiveness in clinical practice in Taiwan. METHODS: This was a prospective, observational, multicenter study where subjects were followed over 3 months. Outpatients identified as picky eaters, having poor appetite, poor weight gain, or weight loss were enrolled. The acceptance and effectiveness of IMFeD tool were evaluated by caregivers and pediatricians. RESULTS: Among 423 children who completed the study (235 boys, 188 girls; 78.8% aged <5 years, 21.3% aged 6-10 years), the most common feeding difficulties were poor appetite in a fundamentally vigorous child (85.3%) and highly selective intake (70.2%). Mean percentiles for height and weight were 34.6 ± 25.3 and 20.3 ± 21.3 at enrolment, and increased by 5.4 and 5.9 (p < 0.0001) at the last visit, respectively. Most caregivers (86.5%) thought that the IMFeD tool helped them to understand and better identify picky eating behaviors. Pediatricians reported that the IMFeD tool was effective in 99.3% of patients for managing picky eaters in clinical practice. CONCLUSIONS: The IMFeD tool was effective in addressing differences in needs according to type of feeding difficulty by providing a systematic approach to manage feeding difficulty in Taiwanese children. It is applicable to the clinical practice and well-accepted by pediatricians and caregivers.

Unusual imaging features of completely isolated enteric duplication in a child.

We report a case of completely isolated enteric duplication in an 18-month-old boy in whom US revealed a reniform abdominal mass with a pseudokidney sign that had no connection to adjacent organs. Distinctive histopathological changes of the duplication account for these unusual imaging features. Our case represents a diagnostic challenge in this rare entity. To our knowledge, this is a unique case.

Decreasing rate of biliary atresia in Taiwan: a survey, 2004-2009.

OBJECTIVES: The pathogenesis of biliary atresia (BA) is unclear, but epidemiological studies may help to elucidate possible causes. The goals of this study were to identify BA incidence changes in Taiwan in 2004-2009 and to survey the factors that might influence incidence changes to elucidate the possible causes of BA. METHODS: A Taiwan national registry system for BA has been established since 2004. By using data from the national registry system for BA, we identified BA incidence changes in 2004-2009. We also evaluated the correlations between BA incidences and estimated rotavirus vaccine coverage rates and between BA incidences and the gross domestic product. RESULTS: A total of 185 patients with BA were identified in 2004-2009 in Taiwan, whereas the number of live births was 1 221 189. Compared with the incidence of BA in 2004-2006 (1.79 cases per 10,000 live births), the incidence of BA in 2007-2009 (1.23 cases per 10,000 live births) was decreased significantly (P = .01). BA incidences were negatively correlated with the gross domestic product (P = .02) and marginally negatively correlated with rotavirus vaccine coverage rates (P = .07). CONCLUSIONS: A significant decrease in BA incidence in Taiwan since 2007 has been noted and may be related to improvements in the general socioeconomic status and the popularity of rotavirus vaccination. Although more evidence is needed to establish a direct correlation, this phenomenon may shed light on possible causes of and preventive interventions for BA.

Fatty acid composition of Taiwanese human milk.

BACKGROUND: The purpose of this study was to analyze quantitatively the fatty acid composition of the milk of Taiwanese women. METHODS: Two hundred and sixty-nine human milk specimens were obtained from 240 Taiwanese mothers, aged 19-41 years, and subjected to chromatographic analysis. RESULTS: Milk specimens were pooled by the mothers' districts of residence and lactation stages, at 0-11 days, 22-45 days, 46-65 days and 66-297 days after delivery. The fatty acid composition was expressed as weight percentage of all fatty acids detected with C8-C24 chain length. More than 80% of the fatty acids were composed of lauric, myristic, palmitic, stearic, oleic and linoleic acids. The amount of saturated fatty acid was 36.7%. With regard to essential fatty acids, the amount of linoleic acid (LA) was 22% and that of linolenic acid (ALA) was 1.8%, both levels being higher than in human milk from Western countries. However, the ratio of LA/ALA remained at 13:1 for the whole duration of lactation. It has been reported that mothers with high fish consumption have a high content of docosahexaenoic acid and eicosapentaenoic acid in their milk, and we found this phenomenon occurring in our study. The percentage of docosahexaenoic acid and eicosapentaenoic acid in Taiwanese human milk was 0.79% and 0.17%, respectively. CONCLUSION: Fatty acid composition in human milk varies during lactation. With regard to essential fatty acids, the amount of LA was 22% and that of ALA was 1.8%, both levels being higher than in human milk from Western and other Asian countries.

Ovarian cyst torsion in a toddler.

Acute abdominal pain in children is encountered frequently, and the differential diagnosis is extensive. Acute ovarian torsion in children is rare, especially at a very young age, and a difficult diagnosis to make. Infarction caused by ovarian torsion will result if the twist is not unwound spontaneously or surgically in a timely fashion. We presented a case of acute ovarian cyst torsion in a 2-year-old girl who originally presented to the emergency department with abdominal pain and vomiting. Ultimately, she was found to have a 2-cm cyst of the right ovary with concomitant torsion. Because acute ovarian torsion in a very young child is not encountered frequently, timely diagnosis is required to prevent mortality and minimize morbidity. It is important to keep ovarian torsion in the differential of any female children with acute abdominal pain. Emergency physicians should be aware that the potential of acute ovarian torsion in a very young child has a high index of suspicion and seek early operative intervention.

Gitelman's syndrome: report of one case.

Gitelman's syndrome (GS) is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is primarily caused by inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive Na-Cl cotransporter (NCC) on the apical membrane of distal convoluted tubule. We report an eight-year-old girl with incidental hypokalemia prior to appendectomy. All biochemical studies were consistent with GS. Genetic analysis of the NCC gene revealed two novel mutations (N442K and IVS6-1G > A). With regular potassium and magnesium supplementation, the patient has remained normal growth and development during two years of follow-up.

Universal screening for biliary atresia using an infant stool color card in Taiwan.

UNLABELLED: Biliary atresia is the most common cause of death from liver disease in children. Although the Kasai operation before 60 days of age can significantly improve prognosis, delay in referral and surgery remains a formidable problem worldwide because of difficulties in differentiating it from benign prolonged neonatal jaundice. We established a universal screening system using an infant stool color card to promote the early diagnosis and treatment of biliary atresia. After a pilot regional study in 2002-2003, a national stool color screening system was established by integrating the infant stool color card into the child health booklet given to every neonate in Taiwan since 2004. Within 24 hours of the discovery of an abnormal stool color, this event is reported to the registry center. The annual incidence of biliary atresia per 10,000 live births in 2004 and 2005 was 1.85 (40/216,419) and 1.70 (35/205,854), respectively. The sensitivity of detecting biliary atresia using stool cards before 60 days of age was 72.5% in 2004, which improved to 97.1% in 2005. The national rate of the Kasai operation before 60 days of age increased from 60% in 2004 to 74.3% in 2005. The jaundice-free rate (<2 mg/dL) at 3 months after the Kasai operation among infants with biliary atresia in 2004-2005 was 59.5% (44 of 74), significantly higher than the historical data of 37.0% in 1976-2000 before the stool card screening program (P = 0.002). CONCLUSION: Universal screening using the stool color cards can enhance earlier referral, which may ultimately lead to timely performance of the Kasai operation and better postoperative outcome in infants with biliary atresia.

Screening for biliary atresia by infant stool color card in Taiwan.

OBJECTIVE: We aimed to detect biliary atresia (BA) in early infancy to prevent additional liver damage because of the delay of referral and surgical treatment and to investigate the incidence rate of BA in Taiwan. METHODS: A pilot study to screen the stool color in infants for the early diagnosis of BA was undertaken from March 2002 to December 2003. We had designed an "infant stool color card" with 7 numbers of different color pictures and attached it to the child health booklet. Parents were then asked to observe their infant's stool color by using this card. The medical staff would check the number that the parents chose according to their infant's stool color at 1 month of age during the health checkup and then send the card back to the stool color card registry center. RESULTS: The average return rate was approximately 65.2% (78,184 infants). A total of 29 infants were diagnosed as having BA, and 26 were screened out by stool color card before 60 days of age. The sensitivity, specificity, and positive predictive value were 89.7%, 99.9%, and 28.6%, respectively. Seventeen (58.6%) infants with BA received a Kasai operation within 60-day age period. The estimated incidence of BA in screened newborns was 3.7 of 10,000. CONCLUSIONS: The stool color card was a simple, efficient, and applicable mass screening method for early diagnosis and management of BA. The program can also help in estimating the incidence and creating a registry of these patients.

Holoprosencephaly presenting as membranous aplasia cutis and diabetes insipidus: report of one case.

Membranous aplasia cutis is characterized by the presence of a cystic-like nodule located at the midline of the scalp, which is surrounded by a ring of long, dark hair, called a 'hair collar' sign; it always contributes to underlying central nervous malformation. Herein, we report a 2-month-old male infant who was admitted to our ward due to diabetes insipidus complicated with hypernatremia. Physical examination revealed the unique 'hair collar' sign, which is a rare presentation of congenital aplasia cutis. Imaging study revealed holoprosencephaly. Thus, the aim of this report is to remind pediatrician that in a neonate who has "membranous aplasia cutis" with hair collar sign, imaging studies, including brain sonography, computed tomography or magnetic resonance imaging of the brain, should be performed because of the great possibility of underlying central nervous system malformation.

Urolithiasis and primary parathyroid adenoma: report of one case.

A 12-year-old girl was admitted to ward because of persistent left flank pain, vomiting, and hematuria. A stone was located at the ureteropelvic junction of the left kidney, as determined by means of abdominal sonography. Metabolic investigation for a renal stone revealed that she had hypercalcemia, hypophosphatemia, and hypercalciuria. Hyperparathyroidism was diagnosed based on the hypercalcemia and inappropriately elevated serum parathyroid hormone level. A parathyroid adenoma was successfully diagnosed by using thallium/technetium subtraction parathyroid scanning. Extracorporeal shock wave lithotripsy was performed to treat the renal stone, and the parathyroid adenoma was successfully removed. The patient's postoperative course was uneventful. This case is presented because urolithiasis and hyperparathyroidism are rare in children. Metabolic evaluation is mandatory in children with a renal stone. Further investigation for the hyperparathyroidism should be performed if hypercalcemia associated with hypercalciuria is documented.

Management of hemobilia with transarterial angiographic embolization: report of one case.

A nine-year-old girl who developed life threatening hemobilia after blunt abdominal trauma was successfully managed by embolization of the hepatic artery aneurysm. However, biliary fistula persisted and subcapsular liver abscess occurred after the endoscopic sphincterotomy and the placement of a nasobiliary drain for bile leakage. Debridement of the abscess and insertion of a drain tube eventually cured the event. The relevant literature is reviewed and the management of the hemobilia is discussed.