Tufting Enteropathy with EpCAM Mutations in Two Siblings

Tufting enteropathy is a rare autosomal recessive disorder presenting with early-onset severe intractable diarrhea. The epithelial cell adhesion molecule gene (EpCAM) has recently been identified as the gene responsible for tufting enteropathy. Based on histology, a diagnosis of tufting enteropathy was made in two Korean siblings. They developed chronic diarrhea and failure to thrive. They had a broad nasal bridge and micrognathia. Duodenal and colonic biopsies showed villous atrophy, disorganization of surface enterocytes, and focal crowding resembling tufts. Protracted diarrhea continued and so cyclic parenteral nutrition was supplied. The sister had juvenile rheumatoid arthritis. Mutation analysis of EpCAM identified two compound heterozygous mutations in these siblings: 1) a donor splicing site mutation in intron 5 (c.491+1G>A) and 2) a novel nonsense mutation in exon 3 (c.316A>T, Lys106X). Analysis of EpCAM will be useful for genetic counseling and prenatal diagnosis of tufting enteropathy.

Melanosis Coli Associated with Aloe Consumption in a Child / 대한소아소화기영양학회지

Melanosis coli is described as a black or brown discoloration of the mucosa of the colon. Such a discoloration is largely due to pigment granule deposition in macrophages in the colonic mucosa, which arises from anthraquinone-containing laxative abuse. Melanosis coli has usually been reported in the elderly. We present the first case of melanosis coli associated with aloe consumption in a Korean child.

Current feeding practices and maternal nutritional knowledge on complementary feeding in Korea / 소아과

PURPOSE: To evaluate current feeding practices and maternal nutritional knowledge on complementary feeding. METHODS: Mothers of babies aged 9-15 months who visited pediatric clinics of 14 general hospitals between September and December 2008 were asked to fill questionnaires. Data from 1,078 questionnaires were analyzed. RESULTS: Complementary food was introduced at 4-7 months in 89% of babies. Home-made rice gruel was the first complementary food in 93% cases. Spoons were used for initial feeding in 97% cases. At 6-7 months, <50% of babies were fed meat (beef, 43%). Less than 12-month-old babies were fed salty foods such as salted laver (35%) or bean-paste soup (51%) and cow's milk (11%). The following were the maternal sources of information on complementary feeding: books/magazines (58%), friends (30%), internet web sites (29%), relatives (14%), and hospitals (4%). Compared to the 1993 survey, the incidence of complementary food introduction before 4 months (0.4% vs. 21%) and initial use of commercial food (7% vs. 39%) had decreased. Moreover, spoons were increasingly used for initial feeding (97% vs. 57%). The average maternal nutritional knowledge score was 7.5/10. Less percentage of mothers agreed with the following suggestions: bottle formula weaning before 15-18 months (68%), no commercial baby drinks as complementary food (67%), considering formula (or cow's milk) better than soy milk (65%), and feeding minced meat from 6-7 months (57%). CONCLUSION: Complementary feeding practices have considerably improved since the last decade. Pediatricians should advise timely introduction of appropriate complementary foods and monitor diverse information sources on complementary feeding.

A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis / 소아과

Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time.

A Case of Metastatic Signet Ring Cell Carcinoma ofthe Colon in a Child / 대한소아소화기영양학회지

Colorectal carcinomas are extremely rare in childhood and adolescence; however, the colon is the most common site of a gastrointestinal carcinoma. Mucin secreting adenocarcinomas with signet ring formation is the most common type of colon cancer identified in children. An 11-year-old boy had abdominal pain and weight loss for three months, back pain and left thigh pain for two months, and hematochezia for four days. Colonoscopy showed an annular mass in the sigmoid colon and the histopathology revealed a signet ring cell carcinoma. A metastatic signet ring cell carcinoma was suspected from the findings of the bone scan, and confirmed later by a left scalp mass incisional biopsy and a bone marrow biopsy. We report a case of a metastatic signet ring cell carcinoma of the colon in a child.

Gastric neurofibroma in von Recklinghausen disease: a cause of upper gastrointestinal bleeding / 소아과

Neurofibromatosis type 1 (von Recklinghausen disease, NF1) involves the central and peripheral nervous systems as well as the skin, bone, endocrine, gastrointestinal and vascular systems. The gastrointestinal neurofibroma associated with NF1 has been infrequently reported. We report our experience with a 15-year-old boy who had a gastric plexiform neurofibroma with upper gastrointestinal bleeding and underwent a tumorectomy because of massive upper gastrointestinal bleeding. We conclude that gastrointestinal bleeding and anemia in the setting of NF1 mandates complete endoscopic examination of the digestive tract to rule out neurofibromas. Surgical resection is the standard treatment.

Helicobacter pylori reinfection rate by a (13)C-urea breath test and endoscopic biopsy tests in Korean children / 소아과

PURPOSE: The reinfection rate of H. pylori reported before (13)C-urea breath test((13)C-UBT) era was higher than that of the post (13)C-UBT era. Children are usually reluctant to receive invasive endoscopic evaluation for the reinfection of H. pylori, particularly when they are asymptomatic. The aim of the study is to discover the reinfection rate by different diagnostic tests, and to find out what causes the difference. METHODS: Children confirmed to be eradicated from H. pylori were included in the study. Reinfection was evaluated by endoscopic biopsy based tests(n=34, mean age 11.5+/-3.7 years) and/or a (13)C-UBT(n=38, mean age 10.0+/-3.6 years) at the time of 18 months after eradication. At first visit, H. pylori infection had been diagnosed by positive results from a rapid urease test, Giemsa stain and Warthin-Starry stain and/or a positive culture. Eradication was defined as negative results from all above tests 1-3 months after eradication therapy. RESULTS: Reinfection rate by endoscopic biopsy based tests was 35.3 percent(12/34). All patients had abdominal symptoms(P=0.000). Reinfection rate was 13.2 percent(5/38) by a (13)C-UBT. Reinfection rate was higher in children with abdominal symptoms(P=0.008). There was no evidence that reinfection rate depended on the sex(P=0.694), age(P=0.827), diseases(peptic ulcers vs gastritis, P=0.730) and eradication regimen(P=0.087). CONCLUSION: Helocibacter pylori reinfection rate in Korean children was 13.2 percent per 18 months by a non-invasive test or (13)C-UBT. Accurate determinations of the reinfection rate in children is affected by the compliance of the diagnostic tests. Non-invasive tests should be considered to investigate the reinfection rate in children.

Development of Crohn disease in patients with myelodysplastic syndrome: report of two children / 소아과

Crohn disease (CD) is rare, but the incidence of CD has been increasing over the past ten years. We found two cases of CD, associated with myelodysplastic syndrome (MDS), for the first time in children. In the first patient, MDS was diagnosed at three years of age and CD developed later at eight years of age. The patient presented with recurrent abdominal pain, diarrhea, bloody stools and failure to thrive. Colonoscopy revealed cobble stone like mucosa and mass like lesions with superficial ulceration and inflammatory exudates, observed from the cecum to ascending colon. Ileo-cecal biopsy samples showed ulcers with skipped areas and lymphoid infiltrations. The patient was started on treatment with mesalazine and deflazacort, and symptoms remitted. In the second patient, MDS was diagnosed at nine years of age and CD developed at 13 years of age. This patient has recurrent hematochezia, abdominal pain, vomiting and fever. Colonoscopy revealed a large, deep indurative ulceration on the cecal side of the ileo-cecal valve. Ileocecectomy was done, and histology revealed ulceration with transmural inflammation and lymphoid aggregates. Symptoms improved after ileocecectomy.

A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene / 소아과

Hereditary pancreatitis is an autosomal dominant disease characterized by recurrent episodes of pancreatitis, often beginning in childhood, with a positive family history involving at least two other affected family members with no known other precipitating factors. Most forms of hereditary pancreatitis are caused by one of two common mutations, i.e., R122H in exon 3 and N29I in exon 2 of the cationic trypsinogen (CT) (PRSS1) gene, located on chromosome 7. The authors describe the case of a 15-year-old boy who had suffered from recurrent attacks of pancreatitis since age three. His mother and grandmother had chronic pancreatitis and diabetes mellitus. Mutation analysis was performed on the family due to the suspicion of hereditary pancreatitis. The CT gene was analyzed in DNA samples extracted from the peripheral blood of three family members, the mother, the proband, and the proband's sister. Two members of the family, the mother and the proband, were found to have a N29I mutation in the CT gene. The authors document the first family with hereditary pancreatitis associated with the N29I mutation in Korea.