Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report

Childhood adrenocortical carcinoma (ACC) is a rare disease that is mostly linked to familial cancer syndrome. Although the prevalence of ACC is extremely low in children, it is clinically important to diagnose ACC early because age and tumor stage are closely related to prognosis. From this perspective, understanding the underlying genetics and possible symptoms of ACC is crucial in managing ACC with familial cancer syndromes. In this report, we present the case of a 3-year-old girl who initially presented with symptoms of precocious puberty and was later found to have ACC by imaging analysis. On genetic analysis, the patient was found to have a MEN1 gene mutation. MEN1 mutations are found in patients with multiple endocrine neoplasia type 1 (MEN1), usually precipitating multiple endocrine tumors, including pituitary adenoma, parathyroid hyperplasia, and adrenal tumors. Although MEN1 mutation is usually inherited in an autosomal dominant manner, neither of the patient’s parents had the same mutation, making hers a case of sporadic MEN1 mutation with initial presentation of ACC. The clinical course and further investigations of this patient are discussed in detail in this report.

Pediatric Adenocarcinoma in Korea: A Multicenter Study / Journal of the Korean Cancer Association, 대한암학회지

Purpose@#Adenocarcinoma is an extremely rare malignancy in the pediatric population. Research regarding pediatric adenocarcinoma is very rare in Korea. This study aimed to investigate the clinical features of pediatric adenocarcinomas of various primary organ sites in Korea. @*Materials and Methods@#Pediatric patients under 18 years, diagnosed with adenocarcinoma of various sites between January 1995 and December 2016, were included. We retrospectively reviewed patient and tumor characteristics and calculated survival estimates, reported as 5-year survival rate and 95% confidence interval. @*Results@#Of 80 patients (median age, 15 years; range, 10 to 17 years), 37 (46.3%) were men, and 24 (30%) had a family history of cancer or underlying disease relevant to malignancy. The cancer locations were the colon and rectum (n=32), ovaries (n=18), stomach (n=15), lung (n=4), small bowel (n=1), and other sites (n=10). Totally, 54.8% patients (42/77) had stage 3 or 4 disease. The median follow-up period was 2.0 years (range, 0 to 20.4). The 5-year overall survival estimate for all patients, and for those with stomach, colorectal, ovarian, and other cancer sites were 57.9%±11.5%, 58.2%±25.7%, 41.5%±18.2%, 87.5%±16.2%, and 64.0%±34.4%, respectively. The 5-year survival rate differed significantly between categories of adenocarcinomas into gastrointestinal (GI) (44.7%) and non-GI adenocarcinomas (78.8%) (p=0.007). The 5-year survival rate also differed significantly according to carcinoembryonic antigen level (69.3% in 3 ng/mL; p < 0.001). @*Conclusion@#In pediatric patients, adenocarcinomas arise from various organs and are often diagnosed at advanced stages. Large, prospective studies for their accurate clinical characteristics and prognostic factors are needed.

Current Status of Pediatric Critical Care in Korea: Results of 2015 National Survey

BACKGROUND: The aim of this study was to describe the structure, organization, management, and staffing of pediatric critical care (PCC) in Korea. METHODS: We directed a questionnaire survey for all Upper Grade General Hospitals (n = 43) in Korea in 2015. The first questionnaire was mainly about structure, organization, and staffing and responses were obtained from 32 hospitals. The second questionnaire was mainly about patients and management. Responses to second questionnaire were obtained from 18 hospitals. RESULTS: Twelve from 32 Upper Grade General Hospitals had pediatric intensive care units (PICUs) and 11 of them had the PICU which was exclusive for children. Total number of PICU beds in Korea was 113. The ratio of the number of PICU beds to the number of children was 1:77,460 in Korea and this ratio is lower than that of other developed countries. The mean number of beds in the PICUs was 9.4 ± 9.3 (range, 2–30). There were 16 medical doctors who were assigned for PCC and only 5 of them were full time pediatric intensivists. In the 18 Upper Grade General Hospitals that responded to the second questionnaire survey, there were 97 patients in the PICUs with an average number of 5.7 ± 7.2 (range, 0–22) on the survey day. The mean age of the patients was 3.4 ± 5.6 years. The mean length of hospital stay was 82 ± 271 days. The mean Pediatric Risk of Mortality score III was 9.4 ± 7.8 at the time of admission to the PICUs. CONCLUSION: There is a considerable shortage of PICU beds compared to those in developed countries. In addition, the proportion of PICUs with PCC specialists is much lower than those in the US and European countries.

Cause of Abdominal Ultrasound Diagnostic Errors in Children with Acute Appendicitis / 소아외과

PURPOSE: The use of CT as a diagnostic tool in pediatric acute appendicitis is increasing because of its high sensitivity and specificity. However, due to both the serious concerns about radiation of CT and the convenience and reasonable cost of ultrasound (US) examination, US has value on the initial diagnosis of acute appendicitis despite of the lower sensitivity in children. The purpose of this study was to examine the factors that affect the rate of false negative diagnosis of the ultrasound from the patients who received laparoscopic appendectomy. METHODS: The pediatric appendectomy cases from 2002 to 2013 in Yeouido St. Mary's Hospital have been reviewed through the medical records. We included patients who underwent an initial screening by ultrasound examination. RESULTS: Among 181 patients, 156 patients were the sono-positive group and 25 patients were sono-negative group. There is no significant difference in ages, genders, physical examination findings and white blood cell count between the two groups. But, the degree of inflammation of appendicitis (simple, 58.3% vs. 32.0%; complicated, 41.7% vs. 68.0%) and the appendix position (antececal, 85.0% vs. 12.0%; retrocecal, 13.7% vs. 44.0%; pelvic, 1.3% vs. 44.0%) were significantly different between the two groups (sono-positive group vs. sono-negative group; p<0.05). CONCLUSION: The position of the appendix may act as a factor that causes an error in the diagnostic ultrasound, especially, in the retrocecal type and the pelvic type with the higher risk of necrosis or perforation.

Polyethylene Glycol (PEG-3350, Colyte) Poisoning due to Intra-Peritoneal Leakage in an Elderly Patient / 대한중환자의학회지

Polyethylene glycol (PEG)-3350 is the most frequently used lavage solution for bowel cleansing prior to colonoscopy or elective surgery because its large molecular weight means that it is poorly absorbed. However, if it leaks into the peritoneal cavity, complications may arise. Few published studies have assessed the absorption, distribution, metabolism and excretion of PEG. Moreover, no published clinical data regarding complications due to the intra-peritoneal leakage of PEG-3350 could be found. We report on an elderly patient who developed the poisoning caused by leaking of PEG-3350 during bowel preparation. It resulted in severe metabolic acidosis, hypernatremia, hyperosmolality and a high anion gap, but it was effectively treated with early continuous renal replacement therapy after surgery.

Polyethylene Glycol (PEG-3350, Colyte) Poisoning due to Intra-Peritoneal Leakage in an Elderly Patient / 대한구급학회지

Polyethylene glycol (PEG)-3350 is the most frequently used lavage solution for bowel cleansing prior to colonoscopy or elective surgery because its large molecular weight means that it is poorly absorbed. However, if it leaks into the peritoneal cavity, complications may arise. Few published studies have assessed the absorption, distribution, metabolism and excretion of PEG. Moreover, no published clinical data regarding complications due to the intra-peritoneal leakage of PEG-3350 could be found. We report on an elderly patient who developed the poisoning caused by leaking of PEG-3350 during bowel preparation. It resulted in severe metabolic acidosis, hypernatremia, hyperosmolality and a high anion gap, but it was effectively treated with early continuous renal replacement therapy after surgery.

Long-term results of laparoscopic splenectomy in pediatric chronic immune thrombocytopenic purpura

PURPOSE: Laparoscopic splenectomy (LS) for pediatric chronic immune thrombocytopenic purpura (ITP) patients has recently become widespread. However, its long-term result is rarely reported in children. METHODS: We retrospectively analyzed the patients who underwent LS for pediatric chronic ITP from June 1998 to April 2007. RESULTS: There were 18 patients (14 male and 4 female) with mean age 9.5 +/- 3.8 years. 14 complete response, 3 partial response, and 1 no response were occurred. During the 82-month median follow-up period, 9 patients maintained in a remission state without any additional treatment, and 9 patients relapsed. In a comparative analysis of the relapse group and no relapse group, hospital stays were longer in the relapse group and the preoperative platelet counts and platelet counts at 1 month post were lower in relapse group. A relapse-free survival among 17 patients who achieved partial or complete responses following LS showed 76.5%, 61.8%, and 33.0% at 1-, 5-, and 10-year following LS, respectively. CONCLUSION: Although LS in pediatric chronic ITP patients had excellent results immediately after surgery, careful follow up is needed due to late relapse even when a complete response has been noted for several years.

Ureteral Substitution Using Appendix for a Ureteral Defect Caused by a Retroperitoneal Rhabdomyosarcoma in a Child

A 7-year-old boy was diagnosed with a recurrent embryonal rhabdomyosarcoma in the retroperitoneum. After resection of the mass, direct end-to-end anastomosis of the ureter was not possible owing to the length of the resected segment. Accordingly, we performed ureteral substitution by using the appendix to repair the ureteral defect.

Mammary duct ectasia with bloody nipple discharge in a child

Mammary duct ectasia is a rare disease in children and often presents as a cystic mass with bloody nipple discharge. The pathophysiology of mammary duct ectasia is unclear, and the differential diagnosis of other cystic masses with hemorrhage, such as complicated lymphangioma, is necessary. Here, we report a 14-month-old boy who exhibited unilateral mammary duct ectasia with bloody nipple discharge that was treated with surgical excision. Because some authors have reported that mammary duct ectasia can be often be resolved without surgery, conservative therapy should be considered first when a child presents with a cystic mass with bloody nipple discharge. However, the optimal duration of follow-up and timing of surgical excision have not yet been established.

Late-Presenting Congenital Diaphragmatic Hernia in Children: The Experience of Single Institution in Korea

PURPOSE: Late-presenting congenital diaphragmatic hernia (CDH) beyond the neonatal period is rare and often misdiagnosed, with delayed treatment. MATERIALS AND METHODS: We retrospectively reviewed our experience with late-presenting CDH over 30 years at a single institution to determine the characteristics of late-presenting CDH for early diagnosis. RESULTS: Seven patients had operations due to late-presenting CHD in our institution over 30 years. The patients' ages ranged from 2.5 months to 16 years. There were six boys and one girl. Five hernias were left-sided, one was right-sided and one was a retrosternal hernia. All patients had normal intestinal rotation. Non-specific gastrointestinal or respiratory symptoms and signs were usually presented. Intestinal malrotations were absent; therefore, only organs adjacent to the defect or relatively movable organs such as the small bowel and transverse colon were herniated. Two cases were accompanied by stomach herniation with the volvulus and liver, respectively. The duration from presentation to diagnosis varied from 5 days to 1 year. Diagnoses were made by chest X-ray, upper gastrointestinal series and chest computed tomography. All patients underwent primary repair with interrupted non-absorbable sutures by a transabdominal approach. None had postoperative complications. The follow-up period in six patients ranged from 4 months to 20 years (median 3.8 years). There was no recurrence in any of the patients on follow-up. CONCLUSION: A high index of suspicion is important for the diagnosis of late-presenting CDH because it can be a life-threatening condition such as CDH with a gastric volvulus. Early diagnosis and appropriate treatment can lead to a good prognosis.

Acute Appendicitis in Children with Acute Leukemia: Experiences of a Single Institution in Korea

PURPOSE: Acute appendicitis has been reported to be relatively rare in pediatric leukemia patients but there is no official data for this in Korea. And there is no consensus for its treatment in this population. MATERIALS AND METHODS: We conducted a retrospective study of 7 patients diagnosed with appendicitis among 1209 pediatric patients who were diagnosed with leukemia from 1996 to 2008 at a single institution in Korea. RESULTS: The median age at the time of the diagnosis of appendicitis was 12 years (range: 3-15 years), and 3 of the patients were male. The median absolute neutrophil count (ANC) at the time of diagnosis was 0.99x10(9)/L (range: 0-3x10(9)/L). The mean time from the onset of symptoms to the diagnosis was 4 days. All 7 leukemia patients with appendicitis underwent surgery and they demonstrated a survival of 100% without significant complications. CONCLUSION: The incidence of appendicitis in pediatric leukemia patients was 0.57% in our study. Early diagnosis with abdominal ultrasound or computed tomography and early surgical resection in leukemic patient with acute appendicitis may be a safer and more effective treatment option. Even when perforation has already occurred and when the patient has an ANC of 0x10(9)/L, surgical treatment may improve overall survival without incurring significant complications.

Haddad Syndrome with 27 Polyalanine Repeats in PHOX2B Gene in a Korean Infant / 대한주산의학회잡지

Haddad syndrome is an extremely rare disorder which combines congenital central hypoventilation syndrome (CCHS) and Hirschsprung's disease. Several reports have demonstrated that CCHS was related to mutation of the PHOX2B gene. We report here a newborn male infant with apnea and bowel obstruction. He has been diagnosed with combined congenital central hypoventilation syndrome and Hirschsprung's disease, and had 27 polyalanine repeats in the PHOX2B gene. Two cases of Haddad syndrome with identified PHOX2B gene mutation have been recently reported in Korea. Both of them had extended alleles containing 26 polyalanine repeats. It is known that increased number of polyalanine repeat mutations is associated with a more severe clinical phenotype. The baby reported here had 27 alanine repeats (i.e. one more than the previously reported cases in Korea) and ganglion cells could be found only in the distal 70 cm of his small bowel.

The Role of Massive Shaking Irrigation and Abdominal Drainage After Laparoscopic Appendectomy for Panperitonitis Secondary to Perforated Appendicitis in Children

Use of laparoscopic appendectomy (LA) for perforated appendicitis (PA) in children remains controversial because of the development of postoperative intra-abdominal abscess formation. We developed the irrigation method for the prevention of abscess formation after LA performed for PA in children with severe panperitonitis. We called it 'the shaking irrigation'. The object of this study was to analyze the efficacy of this irrigation method. All cases of PA with severe panperitonitis in children that underwent LA with massive shaking irrigation and drainage between June 2003 and December 2007 were studied retrospectively. We included only PA with panperitonitis and large amounts of purulent ascites throughout the abdomen as well as an inflamed small bowel with ileus. Thirty-four children were involved in this study. The mean patient age was eight years. The mean amount of irrigation fluid was 8.2L (range: 4-15L). The mean operative time was 89.5 min. The mean length of the hospital stay was 5.1 days. There were no postoperative intra-abdominal abscesses. There was no conversion to open surgery. In conclusion, Use of LA in PA with severe panperitonitis in children is safe and effective. Massive shaking irrigation and abdominal drainage appears to prevent intra-abdominal abscesses after LA for PA with panperitonitis.

Outcome of Patients Undergoing Kasai Procedure for Biliary Atresia: a Study of Those Surviving More Than 10 Years with Their Native Livers

To evaluate the long-term prognosis of biliary atresia after Kasai operation, a total of 14 patients (of the 41 patients operated upon from 1982 to 1997), who had been followed up for more than 10 years, were included in this retrospective study. Eleven out of 14 patients survived with their native livers, and their data analyzed for age at operation, clearing time of jaundice, histological outcome, postoperative complications, effectiveness after the application of an intussusception anti-reflex valve, and quality of life. Average age at surgery was 62.8 days. Serum bilirubin was normalized within three months in all patients. Six among the eleven long-term survivors had ascending cholangitis as one of the postoperative complications. The application of an intussusception anti-reflux valve did not show any statistical significance in long-term survival. Most of long-term survivors appeared to enjoy good quality of life. Kasai operation might not be the definitive treatment for biliary atresia; however, Kasai operation made it possible to achieve long-term survival for patients with biliary atresia when the patients were detected and treated as early as possible.

Esophageal Atresia with Tracheoesophageal Fistula: A 20 Year Experience of 51 Cases

The aim of this study is to analyze the outcomes of the esophageal atresia with tracheoesophageal fistula over the last 2 decades. The records of 51 patients born between 1987 and 2006 were reviewed. Twenty-seven patients were male. Mean values of the age, gestational age and birth weight were 2.9 days, 296 days and 2.7kg, respectively. All patients had Gross type C anomalies. Thirty-one patients (60.7 %) had one or more associated congenital anomalies and the most common anomaly was cardiac malformation. In 48 cases, primary anastomosis was done and staged operation was done in one case. Circular myotomies in the proximal esophagus were performed in 9 cases. Postoperative complication developed in 26 cases (54 %): pulmonary complication in 12 cases, anastomotic leakage in 10 and anastomotic stricture in 10, recurrent trachoesophageal fistula in one and tracheomalasia in 2 cases. Reoperation was carried out in 2 patients with anastomotic leaks, the remaining leaks were managed non operatively. Three of the strictures were reoperated upon and the others were successfully managed by balloon dilatations. Overall mortality rate was 15.6 %. Mortality rate of the second 10 years (8 %) period decreased significantly compared to that of the first 10 years (23 %) period.

A Case of Pulmonary Choriocarcinoma / 결핵및호흡기질환

Pulmonary choriocarcinoma is a very rare tumor in men. Herrein, the case of a pulmonary choriocarcinoma in 39-year-old man, and whether it had a primary nature, is reported. He denied any prior medical illness, but was admitted to our hospital with a history of a cough, and progressive dyspnea and hemoptysis 2 and 1 week duration, respectively. Chest radiographs on admission revealed a huge lung mass, 10 cm in diameter, in the left upper lung field, with left pleural effusion. Although biopsies using several diagnostic methods for the pathological confirmation were attempted, the pathology was not confirmed. Finally, the patient died after 2 months of regression. An autopsy of the lung was then performed.

Clinical Features of Patients with Lung Cancer and Upper Aerodigestive Tract Cancer / 결핵및호흡기질환

BACKGROUND: To define the clinical features of patients with lung and upper aerodigestive tract cancer through a review of the histopathology, clinical features and follow-up results. METHODS: Patients with lung and upper aerodigestive tract cancer who were diagnosed in Young dong Severance Hospital from 1992 to 2005, were retrospectively reviewed. The clinical data, radiologic findings, pathologic findings, treatment modalities were evaluated. Result: There was a total of 20 patients with aerodigestive tract cancer who were diagnosed with lung cancer over a 13 years period. The mean age was 58.45 +/-15.09 years and 19 cases were male. There were 14 smokers with an average pack year of 46 years. Twelve patients had aerodigestive tract cancer and later developed lung cancer, and 5 lung cancer patients were later diagnosed with aerodigestive tract cancer. CONCLUSION: These results suggest that cancers of the aerodigestive tract and lung can arise as either dependent or independent events and most aerodigestive tract cancer patients who developed lung cancer are not treated properly. Therefore, regular low dose chest CT with close suspicion is needed to properly manage upper aerodigestive tract cancer patients.

Recurrent Lipoblastoma of the Chest Wall in a Child

Lipoblastoma is a relatively rare benign tumor that occurs in infancy and early childhood, and it arises from embryonic white fat. It is classified into two forms based on pathologic features: benign lipoblastoma is a superficial, well-defined mass and diffuse lipoblastomatosis is a deep, infiltrative lesion. They are both histologically benign, but local recurrences can happen without any tendency of metastasis. The prevalent sites are chiefly the upper and the lower extremities and less commonly the head, neck, trunk, mesentery, mediastinum, and retroperitoneum. The treatment of choice is surgical excisions, and the prognosis is good, but recurrence is possible in the case of incomplete excision, so wide local excision is preferred. We experienced a locally recurrent lipoblastoma in an 8 month old female child in the chest wall that reoccurred three months after the primary excision. Because 9th and 10th rib invasion was suspected on magnetic resonance imaging study, mass excision along with partial 9th and 10th ribs resection was performed. The histologic diagnosis confirmed lipoblastoma.

Experience with Tapering Enteroplasty in Intestinal Atresia

Tapering enteroplasty was first described by Thomas in 1969 as one method of intestinal anastomosis. The advantages of tapering enteroplasty in the intestinal atresia are: First, it makes end-to-end anastomosis possible between the atretic bowel ends with considerable differences in diameters. Second, it promotes the recover of the postoperative bowel function. Third, it prevents the possibility of the short bowel syndrome by eliminating the need of resecting the dilated bowel. A total of 22 patients with intestinal atresia who underwent tapering enteroplasty from January 1988 to December 2005 at our institute were reviewed. In 3 of 22 cases, tapering enteroplasty was the 2nd operation after an initial end-to-oblique anastomosis. We reviewed the following items: age, sex, type and location of intestinal atresia, initial feeding and total enteral feeding start day, the length of hospital stay and complications. The average age of the patients was 7 days. Male to female ratio was 1 to 1.2 (10 cases: 12 cases). We performed the tapering enteroplasty on all types and locations of the intestinal atresia from the duodenum to the colon: type I (n=3), type II (n=4), type IIIA (n=7), type IIIB (n=5), type IIIB and IV (n=1), type IV (n=1) and type C (duodenum) and type IIIB and IV (jejunum). On the average, the oral feeds were started on the postoperative 8.8th day, and full caloric intake via the enteric route was achieved on postoperative 13.3th day. The average length of hospital stay was 19.6 days. There were 1 case (4.5 %) of anastomotic complication and 2 cases (9 %) of adhesive ileus among 22 patients. The tapering enteroplasty on all types of intestinal atresia is a usefull operative method when there are considerable diameter differences between the atretic bowel ends.

Clinical Analysis of Vitelline Duct Anomalies in Children

A vitelline duct (VD) anomaly is a relatively common congenital abnormality of the umbilical area. The anomalies include patent vitelline duct (PVD), cyst, fistula or sinus. The incidence is approximately 2% of the populations, but development of symptoms is rare. Recently, we experienced two cases; PVD accompanied by a smallomphalocele and intestinal volvulus due to mesenteric band between Meckel's diverticulum and the mesentery. Thereafter,we evaluated the data of vitelline duct anomalies for 27 years. From 1980 to 2006, 18 cases of VD anomalies were reviewed based on the hospital records retrospectively. There were 15 boys and 3 girls and age ranged from 2 days to 15 years. Among the 18 cases, 15 cases were symptomatic and consisted of Meckel's diverticulum (10 cases), PVD (4 cases) and umbilical polyp (1 case). Three asymptomatic cases of Meckel's diverticulum were found incidentally were and were observed without resection. Ten cases of Meckel's diverticulum were presented with intestinal bleedings (4 cases), intestinal obstructions (5 cases) and perforation (1 case). Wedge resections and segmental resections of ileum were performed in 8 patients and 2 patients, respectively. Postoperative complications were adhesive ileus (1 case) and wound seroma (1 case). Small omphaloceles were accompanied in two of 4 PVD patients. There was 1 small omphalocele case which was accompanied by a prolapse of ileum. In summary, VD anomalies were more common in male and more than half of them were found in patients less than 1 year of age. PVD was diagnosed most frequently in neonates. Meckel's diverticulum presented with intestinal obstruction more frequently than bleeding.