A case of maturity-onset diabetes of the young type 4 in Korea

Maturity-onset diabetes of the young (MODY) is a rare, autosomal dominant disease characterized by non-ketogenic diabetes mellitus (DM). MODY type 4, caused by PDX1 mutation, is a very rare subtype of MODY, especially in Korea. We report a case of a 10-year-old, nonobese girl with a family history of type 2 DM. After diagnosis, the patient’s serum glucose level was well controlled using metformin monotherapy; however, the glycated hemoglobin level increased to 9.0% approximately 2 years after treatment. No obesity or lifestyle problems were observed, and serum fasting C-peptide level was within the normal range. Furthermore, no islet-related autoantibodies were detected. A genetic screening for MODY using a next-generation sequencing panel was performed, and a likely heterozygous pathogenic PDX1 mutation (p.Gly246ArgfsTer21) was identified. The PDX1 variant was not detected in her mother, implying that the mutation had arisen de novo in the proband. She was prescribed insulin degludec in addition to metformin therapy, which improved her hyperglycemia. This report presents a novel MODY type 4 phenotype and highlights the importance of genetic screening in patients with MODY characteristics.

Changes in body mass index in boys with central precocious puberty over 2 years of gonadotropin-releasing hormone agonist therapy

Purpose@#Gonadotropin-releasing hormone agonist (GnRHa) is a safe and effective therapy used to treat central precocious puberty (CPP). Although most studies have reported no significant difference in body mass index (BMI) in girls during and after GnRHa therapy, few studies have investigated changes in BMI in boys with CPP. This study evaluated the effects of GnRHa therapy on BMI in boys with CPP. @*Methods@#This study included 75 boys with CPP at Ajou University Hospital between January 1, 2007 and December 31, 2016, who treated with leuprorelin acetate or triptorelin acetate every 4 weeks for at least 2 years. The subjects were divided into 3 groups according to BMI: normal weight, overweight, and obese. We analyzed the BMI standard deviation score (SDS) in each group before therapy and after 1 year and 2 years of therapy. @*Results@#Of the 75 boys, 37 were in the normal weight group, 21 were in the overweight group, and 17 were in the obese group. Magnetic resonance imaging that was performed before treatment showed abnormal findings in 9 boys. The mean BMI SDS for all participants at initiation was 1.0±0.8, and that in the normal weight, overweight, and obese groups was 0.3±0.4, 1.3±0.1, and 1.9±0.3, respectively. There were no significant differences in BMI SDS in any group after 1 or 2 years of treatment. @*Conclusion@#The BMI SDS in boys with CPP did not significantly change over 2 years of GnRHa therapy.

Association between Minimal Change Esophagitis and Gastric Dysmotility: A Single-Center Electrogastrography and Endoscopy Study in Children / 대한소아소화기영양학회지

PURPOSE: Minimal change esophagitis (MCE) is a reflux disease without mucosal breaks, known to be partially associated with abnormal gastric motor function. Electrogastrography (EGG) is commonly applied to assess gastric motor function in a noninvasive fashion. We aimed to determine the relationship between MCE and gastric myoelectrical activity (GME) recorded on EGG in children. METHODS: We retrospectively assessed the records of 157 children without underlying disease who underwent both EGG and upper gastrointestinal endoscopy at Gachon University Gil Medical Center between January 2010 and June 2015. The children were stratified according to the appearance of the esophagus (normal vs. MCE). Between-group differences in EGG parameters and their correlation with each MCE finding were statistically analyzed. RESULTS: Only the power ratio, one of the EGG parameters analyzed, differed significantly between the two groups (MCE, 1.68±3.37 vs. normal, 0.76±1.06; p < 0.05), whereas the other parameters, such as dominant frequency, dominant power, and the ratio of abnormal rhythm, showed no differences. Among children with MCE, significant correlations were noted between erythema and power ratio (p < 0.05), friability and postprandial dominant frequency (p < 0.05), and edema and/or accentuation of mucosal folds and pre-prandial frequency (p < 0.05). Helicobacter pylori infection correlated with postprandial arrhythmia (MCE, 33.59±15.52 vs. normal, 28.10±17.23; p < 0.05). EGG parameters did not differ between children with normal esophagus and those with biopsy-proven chronic esophagitis. CONCLUSION: In children with MCE, gastric dysmotility may affect the development of MCE, manifesting as EGG abnormalities. H. pylori infection may also affect GME. However, larger prospective investigations are needed to confirm these findings.

Significance of Perianal Lesion in Pediatric Crohn Disease / 대한소아소화기영양학회지

PURPOSE: Despite the increasing incidence of pediatric Crohn disease (CD) in Korea, data on the characteristics of perianal lesions are scarce. Therefore, we aimed to investigate the characteristics of pediatric CD with accompanying perianal lesions in Korea. METHODS: We retrospectively reviewed the medical records of children (age ≤18 years) with confirmed CD at Gachon University Gil Medical Center between 2000 and 2014. Patients were classified into two groups based on the presence or absence of any perianal lesions including skin tags. Additional analysis was performed according to the presence or absence of perianal perforating lesions. RESULTS: Among the 69 CD children (mean age, 15.4 years) include in the analysis, 54 (78.3%) had a perianal lesion and 29 (42.0%) had a perianal perforating lesion. The median duration of chief complaints was longer in pediatric CD with any accompanying perianal lesions (5.40 months vs. 1.89 months, p=0.02), while there was no difference between pediatric CD with and without perianal perforating lesions (5.48 months vs. 4.02 months, p=0.18). Perianal symptoms preceded gastrointestinal symptoms in 13 of 29 (44.8%) patients with perianal perforating lesions. CONCLUSIONS: CD should be suspected in children with perianal lesions, even in circumstances when gastrointestinal symptoms are absent.

Behçet's disease with multiple splenic abscesses in a child

We report the case of a 5-year-old male patient with multiple aseptic splenic abscesses associated with Behçet's disease. The patient visited Gachon University Gil Hospital with fever, abdominal pain, and acute watery and bloody diarrhea, and reported a 2-year history of chronic abdominal pain and intermittent watery diarrhea. He was treated with antibiotics at a local clinic for fever and cervical lymph node swelling. Additionally, he had recurrent stomatitis. A colonoscopy showed multiple well-demarcated ulcerations throughout the colon, and abdominal computed tomography showed multiple splenic abscesses. Pathergy and HLA-B51 tests were positive. Investigations did not reveal any infectious organisms in the aspirate obtained via ultrasound-guided fine needle aspiration. After steroid treatment, all symptoms and multiple aseptic splenic abscesses resolved. However, oral ulcers, genital ulcers, and abdominal pain recurred after tapering the steroids. Infliximab treatment improved the patient's symptoms. However, 5 months after the treatment, the symptoms recurred. The treatment was changed to include adalimumab. Subsequently, the patient's symptoms resolved and colonoscopic findings improved. No recurrence was noted after 3 months of follow-up.

Occurrence Pattern of Intussusception according to the Introduction of Rotavirus Vaccine: An Observational Study at a University Hospital

PURPOSE: Rotavirus vaccine (RV) was introduced in Korea since 2007, and intussusception (IS) remains an important safety concern. This study investigated the trend of IS occurrence related to RV as well as the temporal relevance between vaccination and IS in children. METHODS: We collected data of the patient aged ≤18 years with IS admitted to Gachon University Gil Medical Center, 2003 to 2015. For the patients that have occurred since 2008, the immunization records of RV were collected. The proportion of cases <1 year was calculated by the year and the temporal relationship between vaccination and IS occurrence was analyzed. RESULTS: A total of 696 IS cases were noted. The cases <1 year were 30.7% (214/696). Although the incidence of all IS has increased over the 13-year period (from 74.1 in 2003 to 89.5 in 2015, linear by linear association, P=0.003), the incidence of IS <1 year has not increased (from 56.9 in 2003 to 53.3 in 2015, P=0.910), and the proportion of cases <1 year has decreased (from 35.4 in 2003 to 18.8 in 2015, P=0.000). Of 128 cases <1 year since 2008, 53.9% received RV. In the vaccinated group, 10 cases of IS occurred within 30 days, and eight cases did within 31 to 60 days. Numbers of IS after first, second, and third dose were three, 10, and five cases, respectively. CONCLUSIONS: Occurrence of IS in children <1 year of age did not increase since the introduction of RV. Further monitoring is essential for evaluation of vaccine safety.