• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.1
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• pp.37-40
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• 2014

Purpose: Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). The study investigated the mutation spectrum of UGT1A1 gene in Korean children with CN-2. Methods: Five Korean CN-2 patients from five unrelated families and 50 healthy controls were enrolled. All five exons and flanking introns of the UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced. Results: All children initially presented with neonatal jaundice and had persistent indirect hyperbilirubinemia. Homozygous p.Y486D was identified in all five patients. Three patients had an associated homozygous p.G71R and two a heterozygous p.G71R. The allele frequency of p.Y486D and p.G71R in healthy controls was 0 and 0.16, respectively. No significant difference in mean serum bilirubin levels was found between homozygous carriers of p.G71R and heterozygous carriers. Conclusion: The combination of homozygous p.Y486D and homozygous or heterozygous p.G71R is identified. The p.Y486D and p.G71R can be screened for the mutation analysis of UGT1A1 in Korean CN-2 patients.

• Journal of Yeungnam Medical Science
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• v.12 no.1
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• pp.75-83
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• 1995

Even though phototherapy is an effective means of treating hyperbilirubinemia, adequate binocular shields are essential to prevent light hazard of retina during phototherapy. The phototherapy to young albino rabbits was performed under various conditions; exposured for 12, 24, and 48 hours, continuity or intermittence of irradiation, and use of shields. Although there was no definite pathologic change in indirect ophthalmoscopic examination, severe damage was seen at electron microscopic level. In all experimental groups, swelling and edema of photoreceptor were seen at right after phototherapy. Futhermore, more severe damage was seen in case of intermittent irradiated group and prolong exposed group. In mydriatic eyes, severity of damage was similiar to non mydriatic eyes, but area of retinal damage was more extensive than non-mydriatic eyes. In control group which was protected by binocular shields during phototherapy, no significant abnormality was found.

• Clinical and Experimental Pediatrics
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• v.61 no.12
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• pp.387-391
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• 2018

Purpose: Subgaleal hemorrhage (SGH) is a rare but potentially fatal condition in newborns; however, few studies have reported on this condition. We aimed to identify the clinical characteristics and prognostic factors of SGH. Methods: We retrospectively reviewed the medical records of 20 neonates diagnosed with SGH between January 2000 and June 2017. Enrolled neonates were clinically diagnosed when they had tender fluctuant scalp swelling that crossed the suture lines. Results: Among 20 neonates with SGH, 12 were boys and 7 were girls; median hospitalization duration was $9.7{\pm}6.9days$. Fourteen neonates (70%) were born via vacuum-assisted vaginal delivery, and 4 via vacuum-assisted cesarean section. Of the neonates enrolled, half of them initially showed unstable vital signs, including apnea, desaturation, and cyanosis. Ten neonates had acidosis and 3 had asphyxia (pH<7.0). Intracranial lesions associated with SGH were observed in 15 neonates (75%), including subdural hemorrhage (50%), subarachnoid hemorrhage (15%), intraventricular hemorrhage (5%), cerebral infarct (15%), skull fracture (30%), and cephalohematoma (20%). Twelve neonates (60%) required transfusion, 5 (25%) had seizures, and 3 (15%) died. Eight neonates (40%) had hyperbilirubinemia (mean total bilirubin, $13.1{\pm}7.4$). The mean follow-up period was $8.4{\pm}7.5months$. At follow-up, 10 neonates (58.8%) were healthy with normal development, whereas 7 (41.2%) had neurological deficits. Conclusion: The morbidity rate was 41.2% due to severe metabolic acidosis. Anemia, hyperbilirubinemia, low Apgar scores, and subdural hemorrhage did not affect the prognosis. The long-term outcomes of neonates with SGH are generally good. Only arterial blood pH was significantly associated with death.

• Advances in pediatric surgery
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• v.1 no.2
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• pp.204-208
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• 1995

Neonatal adrenal hemorrhage is frequently associated with birth trauma or perinatal hypoxia. Hemorrhagic necrosis of the adrenal glands is often found at autopsy and many small lesions are usually asymptomatic. A palpable abdominal mass and jaundice are the usual presenting signs. Ultrasound is very useful in the diagnosis of this lesion; however, if the mass has mixed echoic pattern, magnetic resonance imaging (MRl) is helpful for the differential diagnosis from neuroblastoma. We present the case of a female newborn who was found to have a abdominal mass on physical examination. The patient showed anemia and hyperbilirubinemia. An ultrasonogram disclosed a $3.8{\times}3.0$ cm suprarenal mass with mixed echoic pattern. The mass was initially suspected to be neuroblastoma. An abdominal computed tomogram was not able to differentiate the mass. Magnetic resonance imaging revealed markedly increased signal intensity on T1 and T2-weighted sequences. This finding was consistent with adrenal hemorrhage. Serial sonogram demonstrated the mass that resolved completely by 12 weeks of age.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.4
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• pp.266-269
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• 2014

Gilbert syndrome is the most common inherited disorder of bilirubin glucuronidation. It is characterized by intermittent episodes of jaundice in the absence of hepatocellular disease or hemolysis. Hereditary spherocytosis is the most common inherited hemolytic anemia and is characterized by spherical, osmotically fragile erythrocytes that are selectively trapped by the spleen. The patients have variable degrees of anemia, jaundice, and splenomegaly. Hereditary spherocytosis usually leads to mild-to-moderate elevation of serum bilirubin levels. Severe hyperbilirubinemia compared with the degree of hemolysis should be lead to suspicion of additional clinical conditions such as Gilbert syndrome or thalassemia. We present the case of a 12-year-old boy with extreme jaundice and nausea. The diagnosis of hereditary spherocytosis was confirmed by osmotic fragility test results and that of Gilbert syndrome by genetic analysis findings.

• Parasites, Hosts and Diseases
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• v.22 no.1
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• pp.72-77
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• 1984

A case of congenital malaria infection has been studied in a 46-day old female Korean infant. Her mother suffered from malaria infection during pregnancy in Uppervolta, Africa, and returned to Korea at the 9th month of gestation for delivery. At 39 days of age, the clinical features characterized by fever, irritability, pallor, jaundice and hepatosplenomegaly were developed. The laboratory data revealed a hemolytic anemia with thronbocytopenia, hyperbilirubinemia and increased hepatic enzyme values. A peripheral blood smear demonstrated intraerythrocytic malarial parasites and gametocytes of Plasmodium falciparum. She was successfully treated with quinine solfate (25mg/kg/day in three doses for 5 days) and trimethoprimejsulfamethoxazole (8mg/kg/day in two doses for 5 days) orally, and repeated blood smear had been negative for malaria. This report also signifies the first description of congenital malaria in Korea imported from Uppervolta in Africa. A brief review of related literature was made.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.835-840
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• 2007

Any infant noted to be jaundiced at 2 weeks of age should be evaluated for cholestasis with measurement of total and direct serum bilirubin. With the insight into the clinical phenotype and the genotype-phenotype correlations, it is now possible to evaluate more precisely the neonate who presents with conjugated hyperbilirubinemia. Testing should be performed for the specific treatable causes of neonatal cholestasis, specifically sepsis, galactosemia, tyrosinemia, citrin deficiency and endocrine disorders. Biliary atresia must be excluded. Low levels of serum gamma-glutamyl transferase in the presence of cholestasis should suggest progressive familial intrahepatic cholestasis type 1, 2, or arthrogryposis- renal dysfunction-cholestasis syndrome. If the serum bile acid level is low, a bile acid synthetic defect should be considered. Molecular genetic testing and molecular-based diagnostic strategies are in evolution.

• Journal of Yeungnam Medical Science
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• v.19 no.1
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• pp.68-72
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• 2002

Dubin-Johnson syndrome is a form of benign, familial idiopathic jaundice presenting with chronic intermittent conjugated hyperbilirubinemia and a melanin-like pigment has been found in the parenchymal liver cells. This disorder is rarely diagnosed in the neonatal period. We report a case of Dubin-Johnson syndrome presenting with neonatal cholestasis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.19 no.1
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• pp.1-11
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• 2016

Cholestasis results from impairment in the excretion of bile, which may be due to mechanical obstruction of bile flow or impairment of excretion of bile components into the bile canaliculus. When present, cholestasis warrants prompt diagnosis and treatment. The differential diagnosis of cholestasis beyond the neonatal period is broad and includes congenital and acquired etiologies. It is imperative that the clinician differentiates between intrahepatic and extrahepatic origin of cholestasis. Treatment may be supportive or curative and depends on the etiology. Recent literature shows that optimal nutritional and medical support also plays an integral role in the management of pediatric patients with chronic cholestasis. This review will provide a broad overview of the pathophysiology, diagnostic approach, and management of cholestasis beyond the neonatal and infancy periods.

• Clinical and Experimental Pediatrics
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• v.48 no.6
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• pp.649-654
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• 2005

Purpose : The present study examined how changes in cerebral hemodynamics in newborn piglets with bilirubin infusion can be evaluated by near infrared sepctroscopy(NIRS). Methods : Seventeen newborn piglets were randomly divided into the following three experimental groups : six in the control group(CG); seven in the bilirubin infusion group(BG), and four in the bilirubin infusion with 7-nitroindazole group(NG). To achieve the concentration of bilirubin above 20 mg/dL, we injected a bolus of 40 mg/kg of bilirubin intravenously, followed by 30 mg/kg/hr of bilirubin continuous intravenous infusion. All groups were monitored with cerebral hemodynamics using near infrared spectroscopy(NIRS) and their brain cortexes were harvested and the activities of $Na^+$, $K^+$-ATPase, level of conjugated dienes, ATP and phosphocreatine(PCr) were determined biochemically. Results : No changes took place in CG. In BG and NG, base excess, pH, and MABP decreased, and lactate level in blood increased. Cerebral $Na^+$, $K^+$-ATPase activity and ATP, PCr level in BG significantly decreased and conjugated dienes increased compared to CG. These abnormalities observed in the BG were significantly improved in the NG. In continuous NIRS monitoring, [$HbO_2$], [HbT], and [HbD] in BG were significantlly decreased compared to CG. However these abnormalities between NG and CG were not significantly different. There were no significant differences in $ScO_2$ between the study groups. Conclusion : Our study suggests cerebral hemodynamic changes could be monitored by non-invasive NIRS in newborn piglets with bilirubin infusion.