Successful detection and removal of predictable juvenile polyp: a case report

Juvenile polyp makes up 70% to 80% of pediatric colon polyp, and the average age of diagnosis is 2 to 5 years. The treatment of juvenile polyp in children is polypectomy through colonoscopy. The fact that the lumen of intestine is much smaller than that of adults and the need to perform polypectomy is a heavy burden on the endoscopists. Recently, fecal calprotectin (FC) has been found to be related to juvenile polyp. A previously healthy 34-month-old female patient presented to the pediatric gastroenterology department with intermittent bloody stools that were progressively worsening. FC level was abnormally elevated at 2,719 µg/g (normal, < 50 µg/g). The polyp was successfully removed with a endoscopic polypectomy. This is the first case in Korea to show that FC can be used to screen juvenile polyp in children. Caution must be taken that FC levels can increase with inflammation, regardless of the number or size of the polyps.

A case of ingested multiple magnetic beads: the importance of suspicion based on medical history

We report a 33-month-old boy who presented to the emergency department with mild periumbilical abdominal pain lasting for 3 days. A plain abdominal radiograph showed 7 magnetic beads, which were located possibly in the small intestine without a free air. His parents bought neodymium magnetic beads 10 days before the onset of the symptom, and did not witness swallowing of the beads. Contrary to the radiographic finding, laparoscopic exploration showed several perforations in the small intestine and mesocolon. He was discharged uneventfully on postoperative day 5. Ingested magnetic beads should be considered as a cause if a child with abdominal pain recently obtained or played with the beads.

The First Report on Clinical Manifestation of Cryopyrin-Associated Periodic Syndrome in Korean Children

PURPOSE: The aim of this study was to evaluate the clinical characteristics of children diagnosed as cryopyrin-associated periodic syndrome (CAPS) in Korea. METHODS: Diagnosis was made based on clinical features and confirmed by a mutation in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene. Especially, osteocartilaginous overgrowth in the patella or distal femur was so characteristic that its presence warranted a diagnosis of chronic infantile neurologic cutaneous and articular/NOMID. RESULTS: We observed the clinical features of 9 Korean CAPS patients. All the patients suffered from an urticarial rash with recurrent fever. Among the 9 patients, 6 presented with rash and 4 with fever on the 1st or 2nd days of birth. Eight patients showed myalgia, and 7 patients showed arthralgia in the joints, and 6 patients showed radiologic findings of arthropathy including cupping of the metaphysis, excessive growth of the epiphysis, osteopenia or overgrowth of the cartilage. Four patients showed brain atrophy, enlarged ventricles or leptomeningeal enhancement on magnetic resonance imaging. Intellectual disability was observed in 1 patient. Five patients had eye involvement as conjunctivitis, uveitis, chorioretinitis, avascular area or papillary edema, and 3 patients showed progressive hearing loss. All 9 patients showed increased C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). CONCLUSIONS: All the patients carried a mutation on exon 3 of the CIAS1 gene. After the anakinra (interleukin-1 receptor antagonist) therapy, the fever and rash immediately disappeared, and CRP and ESR were improved.

Higher Morbidity of Monogenic Inflammatory Bowel Disease Compared to the Adolescent Onset Inflammatory Bowel Disease / 대한소아소화기영양학회지

PURPOSE: Monogenic inflammatory bowel disease (IBD) patients do not respond to conventional therapy and are associated with a higher morbidity. We summarized the clinical characteristics of monogenic IBD patients and compared their clinical outcomes to that of non-monogenic IBD patients. METHODS: We performed a retrospective cohort study of all children <18 years old who were diagnosed with IBD between 2005 and 2016. A total of 230 children were enrolled. Monogenic IBD was defined as a presentation age less than 6 years old with confirmation of a genetic disorder. We subdivided the groups into monogenic IBD (n=18), non-monogenic very early-onset IBD (defined as patients with a presentation age <6 years old without a confirmed genetic disorder, n=12), non-monogenic IBD (defined as all patients under 18 years old excluding monogenic IBD, n=212), and severe IBD (defined as patients treated with an anti-tumor necrosis factor excluding monogenic IBD, n=92). We compared demographic data, initial pediatric Crohn disease activity index/pediatric ulcerative colitis activity index (PCDAI/PUCAI) score, frequency of hospitalizations, surgical experiences, and height and weight under 3rd percentile among the patients enrolled. RESULTS: The initial PCDAI/PUCAI score (p < 0.05), incidence of surgery per year (p < 0.05), and hospitalization per year (p < 0.05) were higher in the monogenic IBD group than in the other IBD groups. Additionally, the proportion of children whose weight and height were less than the 3rd percentile (p < 0.05 and p < 0.05, respectively) was also higher in the monogenic IBD group. CONCLUSION: Monogenic IBD showed more severe clinical manifestations than the other groups.

A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency / 대한소아소화기영양학회지

Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts. A dried blood spot test revealed markedly decreased activity of LAL. LIPA gene sequencing identified the presence of a novel homozygous mutation (p.Thr177Ile). The patient's elevated liver enzymes and dyslipidemia improved with enzyme replacement therapy. This is the first report of a Korean child with LAL deficiency, and our findings suggest that this condition should be considered in the differential diagnosis of children with hepatosplenomegaly and dyslipidemia.

A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency / 대한소아소화기영양학회지

Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts. A dried blood spot test revealed markedly decreased activity of LAL. LIPA gene sequencing identified the presence of a novel homozygous mutation (p.Thr177Ile). The patient's elevated liver enzymes and dyslipidemia improved with enzyme replacement therapy. This is the first report of a Korean child with LAL deficiency, and our findings suggest that this condition should be considered in the differential diagnosis of children with hepatosplenomegaly and dyslipidemia.

Diagnosis and Treatment of Anorectal Lesions in Crohn's Disease

PURPOSE: Anorectal lesions in patients with Crohn's disease (CD) are difficult to manage because of frequent recurrences and complications. The aim of this study is to evaluate the relationship between anorectal lesions and CD and to analyze the methods of management and the results of anorectal lesions. METHODS: The records of 33 patients with CD who had anorectal lesions, who visited our institution from July 2001 to June 2007, were reviewed retrospectively. RESULTS: CDs involving the small and the large bowel in 24 patients, the small bowel in 4 patients, the large bowel in 4 patients, and only the anorectum in 1 patient. Twenty-two patients (75.9%) were diagnosed as CD with unusual anorectal findings: unhealed wound or delayed healing of wound after the initial anal operation, multiple ulcers or fissures, broad based or friable fistula tract, non-cryptoglandular type of fistula, multiple fistula tracts, and recurrent or concurrent fistula. The predominant type of anorectal lesion was a perianal fistula (28 patients, 84.8%). Twelve out of 45 anal specimens (26.7%) showed noncaseating epithelioid granulomas, characteristic findings of CD. Conservative treatment was performed in 7 patients (21.2%), anorectal operations in 26 patients (78.8%). Twelve of those 26 patients underwent multiple operations. Anorectal operations were performed as follows: incision and drainage (8), fistulotomy or fistulectomy (17), muscle-preserving surgery (7), seton drainage (12), and modified Hanley's procedure (1). All anorectal operations, except those for an abscess, were performed after induction of remission of the CD. Satisfactory results were achieved in 29 patients (87.9%). CONCLUSION: In patients with unusual anorectal lesions, a diagnostic work-up for CD should be performed. Anorectal lesions with CD may be properly managed using several different methods, depending on the anorectal conditions and the activity of the CD.

Pure Red Cell Aplasia (PRCA) due to Parvovirus B19 Infection after Kidney Transplantation / 대한이식학회지

The patient was a 39-year-old male with anemia persistent after a living-related renal transplantation. He was diagnosed to have pure red cell aplasia (PRCA) due to parvovirus B19 infection on the 6th week after the renal transplantation. Serum Parvovirus B19 DNA polymerase chain reaction (PCR) and anti-Parvovirus B19 IgM were positive and bone marrow aspiration biopsy showed giant pronormoblasts including prominent intranuclear inclusions. He has been receiving immunosuppressive therapy including oral cyclosporine A, prednisolone, mycophenolate mofetil (MMF). After diagnosis of pure red cell aplasia, we reduced the dose of cyclosporine A and maintained prednisolone, mycophenolate mofetil. We used intravenous immunoglobin(IVIG) 0.4 g/kg/ day for 5 days. Patient's serum reticulocyte count increased a week after the treatment from 0.1% to 3.8%, and patient's serum hemoglobin level normalized on the 4th week of the treatment. Presently, 20 weeks following the initiation of IVIG, his hemoglobin remains normal without recurrent symptom. We are planning to follow up the serum anti-parvovirus B19 IgM/IgG and parvovirus B19 DNA PCR examination.

Comparison of Laparoscopic with Open Resections in Colorectal Cancer: Analysis of Short-term Results

PURPOSE: This study aimed to compare the results of laparoscopic resection with those of open resection for consecutive colorectal cancer patients who underwent surgery at a single center. METHODS: During the thirty-month period between January 2003 and August 2005, patients with a colorectal adenocarcinoma admitted to our hospital were assessed. Cancers related with FAP or HNPCC, cancers treated with endoscopy or local excision, and recurrent cancers were excluded from the study. Three hundred two laparoscopic resection patients were matched to 302 open resection patients. RESULTS: The mean age of the laparoscopic resection group was 59.5 years while that of the open resection group was 59.4 years. Patients in two groups were similar in terms of gender distribution, level of CEA and ASA, and location and size of tumor. The modified Dukes' stages showed 51 patients in stage A, 33 in stage B1, 62 in stage B2, 17 in stage C1, and 139 in stage C2 for the laparoscopic resection group and 33 in stage A, 52 in stage B1, 82 in stage B2, 18 in stage C1, and 117 in stage C2 for the open resection group (P=0.024). The operative time averaged 9.6 minutes longer in the laparoscopic group (188.9 vs. 179.3 min, P<0.0001). The rate of stoma formation for protection of anastomosis in the laparoscopic group was 4.9% (5.8% in open group). There were significant differences in blood loss (556.2 vs. 952.8 ml, P<0.0001), the amount of intraoperative blood transfusion (1.6 vs. 2.3 unit, P=0.004), the number of harvested lymph nodes (21.1 vs. 16.9, P<0.0001), and the rate of high ligation of IMA (91.7 vs. 75.5%, P<0.0001). The length of the distal resection margins from cancer was longer in the open group (2.9 vs. 3.5 cm, P=0.037). Patients in the laparoscopic group had a faster recovery of bowel function (P<0.0001) and a significant reduction in the mean length of hospital stay (11.5 vs. 16.8 days, P<0.0001). There was no mortality in either group. Early and late complications were comparable. The conversion rate was 1.6 percent. CONSLUSIONS: The benefits of a laparoscopic resection for colorectal cancers are less blood loss and transfusion, faster postoperative bowel motion, a shorter hospital stay, low morbidity, and a large number of harvested lymph nodes. In conclusion, a laparoscopic resection for colorectal cancers can be done safely and effectively and is an acceptable alternative to a conventional open resection.

Analysis on the Surgical Treatment of Colonic Diverticulitis

PURPOSE: With the gradual changes in the diet, the incidence of colonic diverticular disease, particularly that of the left side colon, has increased rapidly in Korea. The aim of this study was to evaluate the clinical features of diverticular disease and to compare the differences in treatment between right and left colonic diverticulitis. METHODS: The hospital records of 67 patients with diverticulitis were reviewed retrospectively. RESULTS: The incidence of right side colonic diverticulitis was 2.5 times higher than that of the left side (48 and 19 cases, respectively). The mean age of the patients was 51.3 years with a male to female ratio of 2.1:1. The left side colonic diverticulitis developed at an older age than that of the right side (mean age of 47.2 and 58.7 years, respectively, P= 0.03). Seventeen out of 48 (35.4%) right and 8 out of 19 (42.1%) left colonic diverticulitis patients were treated surgically. The ratio of surgical treatment was not different according to the location of diverticulitis (P=0.61). The age and gender of the patients or leucocytosis at the time of the diagnosis were not associated with the risk of surgical treatment. The presence of fever and high-grade sepsis on the CT scan (Hinchey grade) were significant risk factors for surgery. The symptom duration was longer in the surgically treated group than in the conservative treatment group in left colonic diverticulitis (P=0.03). Most surgical procedures for right colonic diverticulitis were a single-stage colon resection (16 out of 17 cases), whereas staged procedures including Hartmann's operation (3 cases) and proximal diversion (2 cases) with abscess drainage were performed in 5 out of the 8 left colonic cases. Postoperative complications were more frequent in the left colon cases. CONCLUSION: The left colon is a relatively rare site for diverticulitis in Korea. However, diverticulitis of this section of the colon requires more complicated surgical treatment and is associated with a higher rate of complications than that of the right colon. The earlier application of diagnostic work up might be necessary for patients suspected of having left colonic diverticulitis because a delayed diagnosis is associated with a risk of surgical treatment.

Rectal Carcinoid

PURPOSE: This study was designed to evaluate the clinical charateristics, surgical treatment and outcome of carcinoid tumors of the rectum. METHODS: A retrospective review of the charts of all patients treated for rectal carcinoid tumors at Kangbuk Samsung Medical Center between Jan 1989 and April 1998. Thirteen patients with rectal carcinoids tumors were treated. Follow-up data, histopathological information and surgical procedures were obtained from case notes. RESULTS: There were 10 men and 3 women. The ages ranged from 28 to 60 years (mean 41.1 years for all, 43.8 years for men and 32 years for women). Eight patients (61.5%) had no symptoms. Of the five patients, four complained of rectal bleeding (30.8%), and one complained of defecational difficulty (7.7%). Size of rectal carcinoid tumor was less than 1 cm in 7 patients (53.8%), between 1 cm and 2 cm in 2 patients (15.4%), in four patients (30.8%) larger than 2 cm. Three patients were treated in Abdominoperineal resection. Two patients underwent stapled low anterior resection. The remaining 8 patients underwent conservative resection (3 colonoscopic polypectomy and electrocauterization, 2 colonoscopic snaring biopsy, 2 transanal resection and one Mason's operation). The depth of invasion was contained within sutmucosa in 3 patients. Liver metastasis was found in 2 patients. Average follow-up time was 35.6 months. Two patients died of mutiple mestastasis (liver, bone, peritoneum) 9 and 30months later. CONCLUSION: We concluded that tumors smaller than 1 cm could be managed by local treatment whereas larger than 2 cm should be managed by radical treatment.