A Case of Fulminant Type 1 Diabetes Mellitus with Peripheral Neuropathy in a Korean Child / 대한소아내분비학회지

Type 1 diabetes is an insulin-deficient status due to severe destruction of pancreatic beta cells, and is classified into two subtypes, type 1A and type 1B. Type 1A diabetes is autoimmune and type 1B is idiopathic diabetes. Recently fulminant type 1 diabetes has been identified as a new subtype of idiopathic diabetes. It develops rapidly without any evidence of autoimmunity. This subtype of type 1 diabetes was firstly introduced by Imagawa et al. in 2000, and exclusively reported in Japan. Nonetheless, there has been no case reported in Korea till now. Here, we report a case of fulminant type 1 diabetes in 14-year-old girl. She had acute symptoms for short duration, negative islet-related autoantibodies, elevated serum levels of pancreatic exocrine enzymes (amylase, lipase), high blood glucose level and peripheral neuropathy. But HbA1c level was in normal range. Treatment with insulin was successful, acute symptoms were improved and abnormal laboratory data normalized. Her recent HbA1c level showed only a mild elevation.

A Case Report of Genetically Confirmed Glycogen Storage Disease type Ia

Glycogen storage disease(GSD) type Ia is an autosomal recessive disease, caused by the absence or deficiency of glucose-6-phosphatase activity in the liver, kidney, and intestinal mucosa. Glucose-6-phosphatase is an essential enzyme necessary for gluconeogenesis and glycogenolysis. GSD type Ia is characterized by hypoglycemia, lactic acidosis, hepatomegaly, seizures, doll-like faces with fat cheeks, thin extremities, short stature, protuberant abdomen, easy bruising and epistaxis, delayed puberty, early gout, pancreatitis, kidney stone, and other metabolic derangements such as hyperlipidemia. The most important complications of GSD-Ia are focal segmental glomerulosclerosis and hepatic adenomas. Various mutations have been reported. The most common mutation sites are g727t, G122D, and T255I and also P178A and Y128X muations have been reported. We experienced a female patient showing typical clinical characteristics, laboratory findings such as hypoglycemia, hyperuricemia, and hyperlipidemia, and g727t mutation confirmed by DNA analysis. We present this case with a brief review of related articles

Salmonellosis in children: Analysis of 72 Salmonella-positive culture cases during the last 10 years / 소아과

PURPOSE: We aimed to investigate the clinical manifestations of and antibiotic resistance in culture-proven childhood salmonellosis. METHODS: Clinical manifestations and laboratory data of and antibiotic use in subjects with culture-proven childhood salmonellosis, who were treated at the Chonbuk National University Hospital between September 1998 and August 2008, were analyzed retrospectively. Patients with underlying diseases or concomitant illnesses were excluded. RESULTS: We assessed a total of 72 patients. There were 68 stool culture-positive cases, 7 blood culture-positive cases, and 3 both stool culture- and blood culture-positive cases. Salmonella group D was the most frequent pathogen in stool (63.9%) and blood (71.4%) cultures. Salmonella typhi was isolated in 1 case. Of the 72 patients, 45 (62.5%) were male children, of which 29 (40.3%) were aged 15,000/microliter) and leukopenia (leukocyte count, 5 mg/dL) and erythrocyte sedimentation rate (>20 mm/h) were observed in 88.9% and 58.3% of the patients, respectively. Fifty-two (85.2%) of 61 patients who had undergone antibiotic treatment received a third-generation cephalosporin as definitive antibiotic therapy. Multidrug resistance rate was 40.0% in the first 5 years of the study and 71.4% in the last 5 years. No fatalities occurred in this series. CONCLUSION: Children with culture-proven salmonellosis showed relatively benign clinical outcomes. Appropriate antibiotic treatment of <2 weeks is probably adequate for those without a suppurative focus of infection. The incidence of antibiotic resistant isolates was recently seen to increase.

Effectiveness of head-up tilt test for the diagnosis of syncope in children and adolescents / 소아과

PURPOSE: We aimed to examine the effectiveness of the head-up tilt test (HUT) for the diagnosis of syncope or presyncope in children and adolescents. METHODS: HUT results and clinical features of 160 children and adolescents with syncope or presyncope were studied from May 2003 through March 2008 at the Chonbuk National University Hospital. The children and adolescents were subjected to 70degrees HUT for 45 minutes. The testees were divided into 2 groups: group I (children) comprising 39 children in the age range 7-12 years (mean, 10.59+/-1.60 years) and group II (adolescents) comprising 121 adolescents in the age range 13-20 years (mean, 15.93+/-2.28 years). Positive result rates of the HUT and types of hemodynamic response to the test in the 2 groups were compared. RESULTS: Of the 160 testees, 92 (57.5%) showed positive HUT results; they showed 3 patterns of response to tilting. Twelve patients showed a predominantly vasodepressor response; 10 patients showed a cardioinhibitory response; and 70 patients showed a mixed response. The positive result rates were 43.6% (17/39) and 62.0% (75/121) in groups I and II, respectively. Mixed response was the predominant positive hemodynamic response in both the groups. CONCLUSION: The HUT is a useful diagnostic tool for evaluating the condition of pediatric patients, including adolescents, with syncope. Further, it may be considered as the first step for evaluating the condition of such patients.

The Changes of Incidence of Childhood Diabetes in Jeollabuk-do for 26 Years / 대한소아내분비학회지

PURPOSE: The purpose of this study was to know the changes and types of diabetes mellitus (DM) in children who lived in Jeollabuk-do for last 26 years. METHODS: We subdivided 26 years (January 1981-December 2006) as group 1 (January 1981-December 1993) and group 2 (January 1994-December 2006). Patients under 15 years old who had been newly diagnosed with DM in these periods in general hospitals situated in Jeollabuk-do were reviewed retrospectively about clinical conditions at the onset. RESULTS: 141 patients were enrolled; group 1 was 43 (30.5%) and group 2, 98 (69.5%). Patients number in same period increased over twice. For types of diabetes, group 1 was all type 1 diabetes and group 2 was 75.5% in type 1 diabetes, 21.4% type 2 diabetes and 3.1% clinically suspected maturity onset diabetes of the youth (cMODY). The incidence of diabetes was 0.12 patients per 100,000 under 15 years old in 1980 and increased upto 4.73 ones in 2005. The diagnosed mean age increased from 8.9 years (group 1) to 10.3 years (group 2), but type 1 diabetes had no significant difference. Diabetes occurred in girls more than boys. Two-thirds of all patients were diagnosed in the winter (December-February) and the spring (March-May). CONCLUSION: The incidence of childhood diabetes in Jeollabuk-do increased rapidly and type 2 diabetes was remarkable. We think these aspect would be not only the problem in this province but also the national one. So, we suggest that the practicing of the dynamic survey nationwide is important for the treatment and the management of childhood diabetes.