Pyruvate dehydrogenase complex deficiency (PDCD) is one of the most common neurodegenerative disorders associated with abnormal mitochondrial metabolism. Pyruvate dehydrogenase complex plays an important role in glucose metabolism and generation of energy from carbohydrates. Potential therapies for PDCD, include thiamine and ketogenic diet (KD), have been used with varying degrees of success. However, the KD is too restrictive, and its serious complications, particularly in early age of neonate or infancy are important drawbacks. Recently, the modified Atkins diet (MAD) for intractable epilepsy has provided balanced nutrients. The complications can be expected to be less frequent and well controlled. In this report, we describe an infant with PDCD confirmed by PDHA1 gene mutation through high-throughput sequencing technique of whole exome sequencing, who failed to continue the KD, but made good progress on MAD.

PURPOSE: The aim of this study is to investigate the change in incidence and clinical characteristics of acute poststreptococcal glomerulonephritis (APSGN) through a single center's experience. METHODS: We retrospectively analyzed the medical records of 53 children who were diagnosed with glomerular nephritis at National Health Insurance Corporation Ilsan Hospital between March 2000 and December 2009. Twenty-six of 53 patients falled to meet the dragnostic criteria of APSGN and were excluded. Chief complaints, physical examinations, urinalysis, urine culture, laboratory results, chest x-ray, and clinical manifestations were all retrieved from the remaining 27 patients. RESULTS: The incidence of APSGN by age was highest in children between six to seven years of age, with similar distributions in both genders, and seasonal incidence was higher from November to February when compared to other months, which was similar to the previously reported studies. However, the annual number of APSGN patients did not show a significant decrease from 2000 to 2009. The incidences of edema and hypertension were 59.3% and 48.1% respectively, suggesting lower incidences than those from previous studies. Six patients (22.2%) experienced hematuria for more than 6 months. Hypertensive encephalopathy, one of APSGN critical complications occurred in one patient but resolved with conservative treatment. CONCLUSION: Our study shows that APSGN still occur as a common renal disease but the disease severity seems to decrease with milder clinical manifestations and less complications compared to past studies.
Child ; Edema ; Glomerulonephritis ; Hematuria ; Humans ; Hypertension ; Hypertensive Encephalopathy ; Incidence ; Medical Records ; National Health Programs ; Nephritis ; Physical Examination ; Retrospective Studies ; Seasons ; Thorax ; Urinalysis

Herpes zoster is caused by the varicella-zoster virus (VZV), which affects nerve ganglions. VZV infection may be associated with neurologic complications, which are usually observed after vesicular exanthem. Acute aseptic meningitis is a rare complication of VZV reactivation. We report the case of a previously healthy 14-year-old boy who suffered from aseptic meningitis that was attributed to reactivated VZV infection with exanthem; the patient had undergone vaccination against varicella. This condition can be confirmed by the detection of VZV DNA in the cerebrospinal fluid. The patient was treated with acyclovir and recovered fully.
Acyclovir ; Adolescent ; Chickenpox ; DNA ; Exanthema ; Ganglion Cysts ; Herpes Zoster ; Herpesvirus 3, Human ; Humans ; Meningitis, Aseptic ; Vaccination

An omental infarctions is an uncommon cause of an acute abdomen and a rare entity in children. The etiology is still unclear and the symptoms mimic acute appendicitis. We recently encountered a case of a 10-year-old boy who had a previous surgical history of a manual reduction for intussusception. He complained of abdominal pain and right upper quadrant tenderness without fever or anorexia. An abdominal ultrasonography suggested an omental infarction and computed tomography confirmed the diagnosis. Conservative management was adopted with a rapid and uneventful recovery. Non-operative treatment is a safe and effective treatment of choice for omental infarction.
Abdomen, Acute ; Abdominal Pain ; Anorexia ; Appendicitis ; Child ; Fever ; Humans ; Hydrazines ; Infarction ; Intussusception

PURPOSE: Both atopy and bronchial hyperresponsiveness (BHR) are characteristic features of asthma. Several BHR studies comparing groups of atopic and nonatopic asthmatics have reported conflicting results. The aim of this study was to compare BHR to indirect stimuli, such as mannitol or exercise, between atopic and nonatopic asthmatics in children. METHODS: We performed a retrospective analysis of data from 110 children with asthma, aged 6–18 years using skin prick tests, and serum total and specific IgE levels. Atopy degree was measured using the sum of graded wheal size or the sum of the allergen-specific IgE. Bronchial provocation tests (BPTs) using methacholine were performed on all subjects. BPTs using indirect simuli, including exercise and mannitol, were also performed. RESULTS: Asthma cases were classified as atopic asthma (n=83) or nonatopic asthma (n=27) from skin prick or allergen-specific IgE test results. There was no significant difference in the prevalence of BHR to mannitol or exercise between atopic and nonatopic asthmatics. Atopic asthma had a significantly lower postexercise maximum decrease in % forced expiratory volume in 1 second (FEV1) (geometric mean [95% confidence interval]: 31.9 [22.9–40.9] vs. 14.0 [9.4–18.6], P=0.015) and a methacholine PC20 (provocative concentration of methacholine inducing a 20% fall in FEV1) than nonatopic asthmatics (geometric mean [95% confidence interval]: 1.24 [0.60–1.87] ng/mL vs. 4.97 [3.47–6.47]) ng/mL, P=0.001), whereas mannitol PD15 (cumulative provocative dose causing a 15% fall in FEV1) was not significantly different between the 2 groups. CONCLUSION: There was no significant difference in the prevalence of BHR to mannitol or exercise between atopic and nonatopic asthmatics in children.
Asthma ; Bronchial Provocation Tests ; Child* ; Forced Expiratory Volume ; Humans ; Immunoglobulin E ; Mannitol ; Methacholine Chloride ; Prevalence ; Retrospective Studies ; Skin

PURPOSE: It was found that periostin and squamous cell carcinoma-related antigens (SCCAs) were strongly interleukin-13-inducible gene products. This study measures the serum periostin and SCCA levels in children suffering from atopic dermatitis (AD) and to evaluate the association between the severity of AD and their values. METHODS: Seventy AD children aged 1 month to 10 years were included in our study. Subjects were characterized as having atopic eczema (AE; n=55) or non-AE (NAE; n=15) by atopic sensitization. Serum SCCA and periostin levels were measured. RESULTS: The serum periostin levels were significantly higher in children with AE than in those with NAE (geometric mean [95% confidence interval]: 80.47 ng/mL [75.06–85.93 ng/mL] vs. 67.45 ng/mL [59.99–75.64] ng/mL, P=0.020). The serum concentrations of both SCCA1 and SCCA2 were significantly higher in children with AE than in those with NAE (geometric mean [95% confidence interval]: 1.401 [1.198–1.643] ng/mL vs. 0.969 [0.723–1.268] ng/mL, P=0.039 for SCCA1) (1.178 [0.974–1.455] ng/mL vs. 0.711 [0.540–0.994] ng/mL, P=0.025 for SCCA2). The serum periostin levels were significantly correlated with disease severity and with peripheral blood eosinophil counts. The SCCA levels were not significantly correlated with disease severity. Both SCCA1 and SCCA2 were significantly correlated with serum periostin levels and blood eosinophil counts. CONCLUSION: Serum periostin levels may be significantly correlated with disease severity and blood eosinophil counts in children with AD. Serum SCCA levels can be significantly correlated with serum periostin levels and blood eosinophil counts in children with AD.
Child* ; Dermatitis, Atopic* ; Eosinophils ; Epithelial Cells* ; Humans

Subependymal giant cell astrocytoma (SEGA) is the most common brain tumor that develops in 5-20% of patients with tuberous sclerosis complex. Although these lesions are slowly growing tumor, they can cause morbidity and mortality due to acute hydrocephalus because of their prevalent location near the foramen of Monro. Surgery has been the standard care for SEGAs demonstrating serial growth and symptomatic hydrocephalus. However, not all SEGAs are treatable by complete surgical resection. Gamma Knife stereotactic radiosurgery can be considered as a second option, but it has shown highly variable responses in patients with limited data. In recent years, drugs with novel mechanism, sirolimus and other mammalian target of rapamycin (mTOR) inhibitors have been found to reduce the size of SEGAs. We report a case of treatment of SEGA with gamma knife surgery which continued for two years without progression, even though surgical resection was done, finally.
Astrocytoma* ; Brain Neoplasms ; Cerebral Ventricles ; Humans ; Hydrocephalus ; Mortality ; Radiosurgery ; Sirolimus ; Tuberous Sclerosis*

Tracheal bronchus is an uncommon anomaly in which an ectopic bronchus originates directly from the supracarinal trachea. It is usually an asymptomatic anatomical variant incidentally found on computed tomography or bronchoscopy. However, it can present with symptoms, such as chronic cough, wheezing, atelectasis, and recurrent pneumonia. We report a case of tracheal bronchus diagnosed in the neonatal period, in which the term baby presented with respiratory distress and persistent pulmonary hypertension of the newborn after birth, but no other congenital anomaly was found on further evaluation.
Bronchi* ; Bronchoscopy ; Cough ; Female ; Humans ; Hypertension, Pulmonary* ; Infant ; Infant, Newborn* ; Parturition ; Persistent Fetal Circulation Syndrome ; Pneumonia ; Pulmonary Atelectasis ; Respiratory Sounds ; Trachea