Congenital absence of the gall bladder without extrahepatic biliary atresia is an extremely rare congenital malformation with a reported incidence ranging between 0.01 and 0.02%. It is thought to be occurred from failure of the gallbladder bud to develop in utero and frequent association with other malformations. Agenesis can be randomly discovered at autopsy or operations for symptoms suggestive of biliary tract disease. The authors report a case of agenesis of the gallbladder without extrahepatic biliary atresia in a neonate which was incidentally found at laparotomy for presumed duodenal obstruction, with a review of the literature.
Autopsy ; Biliary Atresia* ; Biliary Tract Diseases ; Duodenal Obstruction ; Gallbladder* ; Humans ; Incidence ; Infant, Newborn ; Laparotomy ; Urinary Bladder

Chiari malformations are brain stem anomalies with or without spinal canal involvement. Type III is the rarest of the Chiari malformations and is characterized by a low occipital or high cervical encephalocele in combination with multiple cerebellar and brain stem anomalies. We report a case of Chiari III malformation of a newborn, who underwent repair of occipital meningoencephalocele and endoscopic third ventriculostomy. We present the case with a review of related literature.
Brain Stem ; Encephalocele ; Humans ; Infant, Newborn ; Spinal Canal ; Ventriculostomy

PURPOSE: Apolipoprotein E (Apo E) plays a major role in lipoprotein metabolism and lipid transport. Many investigators have described that Apo E polymorphisms is one of the most important genetic determinants for cardiovascular disease. The purpose of this study was to evaluate the association between Apo E polymorphisms and serum lipid profiles in obese adolescent. METHODS: We measured the serum concentrations of glucose, apolipoprotein (Apo) A1, Apo B, total cholesterol (TC), triglyceride (TG), HDL and LDL-cholesterol after overnight fasting in obese adolescent. Apo E polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: 86 obese adolescents participated in this study. The body mass index (BMI) of participants were excess of 95 percentile by age and sex. Male to female ratio was 1.7 and mean age of study group was 16.2+/-1.8 years. Mean BMI was 27.4+/-2.5 kg/m2. The frequency of epsilon2, epsilon3 and epsilon4 allele were 8.1%, 87.2% and 4.7% respectively. Study populations were classified into the following three genotypes 1) Apo E2 group (n=13, 15.1%) carrying either the epsilon2/epsilon2 or epsilon2/epsilon3 2) Apo E3 group (n=65, 75.6%) carrying the most frequent epsilon3/epsilon3 3) Apo E4 group (n=8, 9.3%) carrying either the epsilon3/epsilon4 or epsilon4/epsilon4. No differences were found among Apo E genotypes concerning age, sex, weight, height and BMI. Apo B and LDL-cholesterol concentrations were significantly higher in the Apo E4 group (P<0.05). No association were found between Apo E genotypes and glucose, Apo A1, TC, TG and HDL. CONCLUSIONS: We confirmed that serum concentrations Apo B and LDL-cholesterol were influenced by Apo E genotypes. Apo E polymorphisms seems to influence some alteration of lipid metabolism associated with obesity in adolescent.
Adolescent ; Alleles ; Apolipoprotein A-I ; Apolipoprotein E2 ; Apolipoprotein E3 ; Apolipoprotein E4 ; Apolipoproteins ; Apolipoproteins B ; Apolipoproteins E ; Body Mass Index ; Cardiovascular Diseases ; Cholesterol ; Fasting ; Female ; Genotype ; Glucose ; Humans ; Lifting ; Lipid Metabolism ; Lipoproteins ; Male ; Obesity ; Research Personnel

Seckel syndrome is a rare autosomal recessive disease. The characteristic features of Seckel syndrome include Intrauterine and postnatal growth deficiency, severe microcephaly, and a bird-like head. General appearance of our patient was characterized by Pre- and postnatal growth retardation, microcephaly, large eye, and a beaked nose. The patient had mental retardation with CNS anomalies. The CNS anomalies seen in the patient included cerebral dysgenesis and cerebellar atrophy. So, we report the case of CNS anomalies in Seckel syndrome.
Animals ; Atrophy ; Beak ; Head ; Humans ; Intellectual Disability ; Microcephaly ; Nose

PURPOSE: The practice of early discharge of healthy term and near-term newborns is growing worldwide. For this reason, early identification of newborn at risk for developing significant hyperbilirubinemia has become a public health issue. We therefore investigated prospectively 1) the pattern of bilirubin levels of healthy newborn by measuring transcutaneous bilirubin in the first postnatal week, 2) the predictive ability of a predischarge transcutaneous bilirubin measurement to screen for risk of subsequent significant hyperbilirubinemia in healthy newborn. METHODS: The study population consisted of 218 healthy term and near-term babies in the newborn unit at the Konyang University hospital during from August 2004 to June 2005. Transcutaneous bilirubin (TcB) measurements on the midsternum were initially made at the 24 hours of life, repeated daily until discharge, each measurement was performed just at the 24 hours after the previous measurement. And a postdischarge TcB was measured on the 7th day of life. The accuracy of the predischarge TcB as a predictor of subsequent hyperbilirubinemia was determined. RESULTS: The mean bilirubin level is 4.51+/-1.63 mg/dL on the 1st day of life (n=218), 6.71+/-1.92 mg/dL on the 2nd day of life (n=186), 8.04+/-2.05 mg/dL on the 3rd day of life (n=118), 8.60+/-2.33 mg/dL on the 4th day of life (n=88) and 8.60+/-2.79 mg/dL on the 5th day of life (n=41). A total of 16/218 (7.3%) had significant hyperbilirubinemia. Predischarge, 5.5% of the population (12/218) had TcB values in the high risk zone (> or =95 percentile) at the 24 hours of life; of these, 66.7% (8/12) developed significant hyperbilirubinemia. Predischarge, 38% of the population (83/218) was in the low risk zone (<40 percentile) and there was no measurable risk for significant hyperbilirubinemia. CONCLUSION: By measuring noninvasive transcutaneous bilirubin at the 24 hours of life, we can predict which newborn is at high risk of significant hyperbilirubinemia.
Bilirubin* ; Humans ; Hyperbilirubinemia* ; Infant, Newborn ; Prospective Studies ; Public Health

Childhood obesity seems to contribute to the development of vascular inflammation and the progression of arterial wall changes. High-sensitivity C-reactive protein (hs-CRP) has recently emerged as a useful biomarker for vascular inflammation associated with atherosclerosis. The objectives of this study were to evaluate the association of the serum hs-CRP level with ultrasonic findings of early atherosclerosis, carotid intima-media wall thickness (IMT) and brachial flow-mediated dilation (FMD), in obese children. Thirty eight obese children and 45 sex/age-matched healthy control children were recruited. Serum CRP levels were measured by the high-sensitive latex turbidimetric immunoassay, and we measured carotid IMT and brachial FMD using high-resolution B-mode ultrasonography. Obese children had significantly higher hs-CRP levels (1.40+/-0.74 mg/L vs. 0.55+/-0.49 mg/L, p<0.01), as well as increased IMT (0.52+/-0.09 mm vs. 0.41+/-0.07 mm, p<0.01) and impaired FMD (7.35+/-7.78% vs. 20.34+/-16.81%, p<0.01) compared to healthy controls. Serum hs-CRP correlated positively with IMT (r=0.413, p<0.05) and inversely with FMD (r=-0.350, p<0.05) in the obesity group. Measurement of the serum hs-CRP level is a simple, cheap, and highly reproducible assay and correlates with IMT and FMD in obese children. Thus, it would be a useful marker for evaluating and estimating the degree of atherosclerosis in children.
Sensitivity and Specificity ; Risk Factors ; Risk Assessment/*methods ; Reproducibility of Results ; Prognosis ; Obesity/*blood/*complications/diagnosis ; Male ; Humans ; Female ; C-Reactive Protein/*analysis ; Biological Markers/blood ; Atherosclerosis/*blood/complications/*diagnosis ; Adolescent

PURPOSE: The prevalence of obesity in children is increasing rapidly. Epidemiologic studies suggest that obesity induced atherosclerosis may start in childhood. We investigated whether obese children show early abnormalities of the arterial wall and endothelial dysfunction. METHODS: Thirty-eight obese children(14-16 years old of age, male, body mass index 29.40+/-3.18 kg/m2) and forty-five age and sex-matched healthy control children(body mass index 18.43+/-1.01 kg/ m2) were enrolled. Their carotid artery intima-media thickness(IMT) and brachial artery flow-mediated dilation(FMD) response were measured by high-quality ultrasound system, and compliance, distensibility, stiffness index, incremental elastic modulus and wall stress were calculated by equation. In addition, we looked at the relations between these arterial features and metabolic cardiovascular risk factors. RESULTS: The obese children had significantly increased IMT(0.52+/-0.09 mm vs 0.40+/-0.07 mm, P< 0.001) and markedly impaired FMD(7.35+/-7.78 percent vs 20.34+/-16.81 percent, P<0.001) than the healthy controls. But the compliance and distensibility were lower, and the stiffness index, incremental elastic modules and wall stress were higher in the obese group than the control group, but not statistically significantly. Body mass index was highly associated with increased IMT(r=0.612, P< 0.001) and reduced FMD(r=-0.414, P<0.001). CONCLUSION: We showed the deleterious effect of child obesity on both early functional and structural atherosclerotic markers. The ultrasonic findings will be used for screening and follow up markers to identify high-risk patients among obese children.
Atherosclerosis ; Body Mass Index ; Brachial Artery ; Carotid Arteries ; Child* ; Compliance ; Elastic Modulus ; Epidemiologic Studies ; Humans ; Male ; Mass Screening ; Obesity ; Pediatric Obesity ; Prevalence ; Risk Factors ; Ultrasonics ; Ultrasonography

Intracranial lipomas are rare lesions, which represent 0.1-1.7% of all intracranial tumors. They preferentially occur near the midline, most frequently in the pericallosal cistern, and are often associated with various neurologic and systemic anomalies. Magnetic resonance imaging and computerized tomography together with clinical trials are of crucial importance for diagnosis. We report a rare case of intracranial lipoma of the body of corpus callosum in a child, who has had cyclic headache, vertigo, with a review of the literature.
Child ; Corpus Callosum ; Diagnosis ; Headache ; Humans ; Lipoma* ; Magnetic Resonance Imaging ; Vertigo

PURPOSE: Recently, incidences of chronic cough with allergic disease have been increased. The identification of specific allergens for chronically coughing children is significant for diagnosis, proper treatment and prevention. The aim of this study was to identify significant contributors for sensitization in chronically coughing children. METHODS: A total of 106 children, aged 1-6 years, visiting for chronic cough(>3 weeks), were tested for inhalant multiple allergosorbent assay(MAST), eosinophil count and total IgE. Parents completed a questionnaire on past history of atopy(infantile eczema) and bronchiolitis, family history of allergy, breastfeeding, smoking, pets and floor coverings at home. RESULTS: Significant contributors for sensitization were:age(4-6 years), infantile eczema, positive family history of allergy and smoking by family. CONCLUSION: We were able to identify significant contributors for sensitization in chronically coughing children.
Allergens ; Breast Feeding ; Bronchiolitis ; Child* ; Cough* ; Dermatitis, Atopic ; Diagnosis ; Eosinophils ; Humans ; Hypersensitivity ; Immunoglobulin E ; Incidence ; Parents ; Surveys and Questionnaires ; Smoke ; Smoking

Spontaneous gastric perforation of the newborn is a rare, serious and life-threatening problem. This is surgical emergency because of high mortality. Most historical reports have described gastric perforation in the neonate as spontaneous cause. But, recent reviews report the contributing factor including prematurity and mechanical ventilation. Usually clinician identifies the pneumoperitoneum in simple abdomen X-ray. The final diagnostic method is surgical finding and the treatment of gastric perforation is immediate surgical correction. Early diagnosis, hemodynamic monitoring and fluid therapy for hypovolemia improve outcome. Pseudocyst formation after gastric perforation is very rare in newborn. We report a rare case of pseudocyst formation after spontaneous gastric perforation in full term newborn.
Abdomen ; Early Diagnosis ; Emergencies ; Fluid Therapy ; Hemodynamics ; Humans ; Hypovolemia ; Infant, Newborn ; Mortality ; Pneumoperitoneum ; Respiration, Artificial