• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.96-107
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• 2006

Citrin deficiency resulting from mutations of SLC25A13is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2). In Korea, 7 cases of citrin deficiency have been diagnosed based on biochemical and molecular findings. Four NICCD cases were identified by newborn screening using MS/MS or presenting symptoms like cholestatic jaundice. They are all males, presenting with conjugated hyperbilirubinemia, elevated liver enzymes, hypoalbuminemia, mild hyperammonemia, elevated citrullin, methionine and threonine. All of them have been spontaneously recovered from hepatic manifestation by the age of 6-8 months. Mutation analysis has been performed using their genomic & cDNAs obtained from skin fibroblasts. They turned out to be compound heterozygotes carrying each of 851del4, IVS11+1G>A, and IVS13+1G>A. Three CTLN2 patients were identified. Two adult male patients presented with a sudden loss of consciousness, seizure, vomiting, hyperammonemia and citrullinemia in their twenties. They carried an IVS13+1G>A, 851del4, and IVS11+1G>A mutant alleles. The other CTLN2 patient was 52 year old female patient, manifesting lethargy, altered consciousness, irritability and hyperammonemia. Similar clinical symptoms had recurred at the delivery of first and second babies in her past medical history. She was managed by hemodialysis and survived with neurological sequellae. Also, we screened the presence of 9 common mutations in 500 Korean newborns using dried blood spot of filter papers. Only a allele carried 854del4 mutation. In conclusion, the entire picture of citrin deficiency in Korea including incidence, genotype, clinical features and natural courses, is still vague at the present time.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.19 no.2
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• pp.147-151
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• 2016

Neonatal hemochromatosis (NH) is a severe neonatal liver injury that is confirmed by extra-hepatic iron accumulation. Although a recent study described treating NH with exchange transfusions and intravenous immunoglobulin, liver transplantation should be considered for patients with severe liver failure that does not respond to other medical treatment. Herein, we report the case of a two-month-old female infant who presented with persistent ascites and hyperbilirubinemia. Her laboratory findings demonstrated severe coagulopathy, high indirect and direct bilirubin levels, and high ferritin levels. Abdominal magnetic resonance imaging presented low signal intensity in the liver on T2-weighted images, suggesting iron deposition. The infant was diagnosed with NH as a result of the clinical findings and after congenital infection and metabolic diseases were excluded. The infant was successfully treated with a living-donor liver transplantation. Living related liver transplantation should be considered as a treatment option for NH in infants.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.2 no.2
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• pp.262-266
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• 1999

Obstruction of the extrahepatic bile ducts is the most common cause of conjugated hyperbilirubinemia in early infancy. More than 90% of such obstructive lesions are accounted for by extrahepatic biliary atresia. A rare lesion is obstruction of the common duct by impacted, thickened secretions and bile. Bile plug syndrome is defined as extrahepatic obstruction of the bile ducts by bile sludge in term infants without anatomic abnormalities, congenital chemical defects of bile, or hepatocellular lesions. Obstruction of extrahepatic ducts by plugs of biliary material apperas to be due to the inspissation and precipitation of bile and mucus within the lumen of the ducts. Cholestasis and precipitation of bile develop in association with abnormal composition of bile in cystic fibrosis, hepatocellular damage, prolonged erythroblastic jaundice, altered biliary dynamics with total parenteral nutrition, gut dysfunction, diuretic therapy, exchange transfusions and perinatal hemolysis. In those cases, the term inspissated bile syndrome is used. The clinical and laboratory findings in bile plug syndrome are identical to those observed in biliary atresia and choledochal cyst. The diagnosis can be suspected based on the findings of clinical and laboratory examinations together with hepatobiliary imaging, ultrasonography, radionuclide scan and liver biopsy. We experienced a case of spontaneous resolution of bile plug syndrome in a 4-year-old girl. We report this case with brief review related literatures.

• Journal of The Korean Society of Clinical Toxicology
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• v.6 no.2
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• pp.134-137
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• 2008

Methylene blue is the first choice for treating methemoglobinemia, any increase in normal methemoglobin levels. Methemoglobin is an abnormal hemoglobin in which the iron has been oxidized to the ferric(+3) state, making it incapable of oxygen transport. Methemoglobinemia most commonly results from exposure to oxidizing chemicals, but may also arise form genetic, dietary, or even idiopathic etiologies. Patients with low methemoglobin levels are asymptomatic, but high methemoglobin levels can lead to headaches or even death. Methylene blue, the first-line treatment for methemoglobinemia, can also produce hemolytic anemia. Jaundice or dark urine during methylene blue treatment may indicate hemolytic anemia. A 47-year-old female patient with a history of depressive mood disorder developed significant methemoglobinemia after ingesting a Propanil overdose. Twenty-two hours after ingestion, methemoglobin levels in the blood were 73.2%. She was treated with intravenous methylene blue in the therapeutic range (1 mg/kg every 4 h for 3days). The 2nd day after methylene blue use, methemoglobin levels in the blood were 33%, and the 5th day decreased to 10% with better general condition. The patient had hyperbilirubinemia after hemolytic anemia, but she recovered completely.

• Perinatology
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• v.29 no.4
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• pp.189-194
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• 2018

Congenital neuroblastoma is a rare disease. Placental metastasis is extremely rare and poor prognosis has been reported in neonates. Mirror syndrome could occur in mother with placental metastasis with possibilities of hypertension and edema. We report a case of detection of left suprarenal mass in fetus at $31^{+5}weeks^{\prime}$ gestation. Mother presented with palpitation, edema, headache, and hypertension. Maternal 24 hours urine vanillylmandelic acid (VMA) and normetanephrine (NME) level at 34 weeks' gestation were elevated. Consequently, emergent cesarean section was done. Based on abdominal ultrasonography and whole body magnetic resonance imaging, left adrenal tumor with liver metastasis was suspected. Neuroblastoma was confirmed by liver and placenta biopsy. Chemotherapy was started with Pediatric Oncology Group 9243 at day 7 and changed into Children's Oncology Group 3961 due to cholestasis and poor response during 2nd cycle. Plasma exchange was done for aggravated direct hyperbilirubinemia. The baby expired at 73 days due to multi-organ failure. Maternal symptoms were completely resolved in 2 weeks after delivery along with normalization of the elevated level of VMA and NME. We report a first case of mirror syndrome in Korean mother and fetus resulting from metastatic congenital neuroblastoma to placenta.

• Journal of the Korean Society of Radiology
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• v.83 no.5
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• pp.966-978
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• 2022

Jaundice in children have various etiologies. Among them, physiological jaundice is a very common disease observed in more than half of full-term neonates. When jaundice persists or develops after 2 weeks of age, the total/direct bilirubin is measured in consideration of the possibility of cholestasis. In case of cholestasis, imaging studies differentiate biliary atresia and other disorders of the extrahepatic bile ducts. In this review, we briefly presented the major differential diseases of cholestasis in children and introduced diagnostic imaging techniques, including normal findings.

• Journal of Hospice and Palliative Care
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• v.18 no.2
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• pp.120-127
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• 2015

Purpose: We aimed to investigate how serum vitamin D levels are related to survival of terminally ill cancer patients. Methods: From May 2012 through June 2013, a retrospective chart review was performed on 96 hospice patients. Univariate and multivariate logistic regression analyses were conducted to identify factors associated with severe vitamin D deficiency and Coxcy and Coxional hazard analyses were used to evaluate effects on survival. Results: The mean vitamin D level in patients was $8.60{\pm}7.16ng/ml$. Vitamin D was severely deficient (<10 ng/ml) in 75 patients (78.2%), deficient (10~20 ng/ml) in 13 patients (13.5%), relatively insufficient (21~29 ng/ml) in five patients (8.3%) and sufficient ((t ng/ml) in three patients (3.1%). Hyperbilirubinemia (${\geq}1.2g/dl$) was the only factor associated with severe vitamin D deficiency according to the multiple logistic regression analysis (Odds ratio, OR=18.48, P<0.05). Although hyperbilirubinemia showed a strong association with survival (Hazard ratio, HR=2.25, P<0.01), no association was found between severe vitamin D deficiency and survival (HR=1.15, P>0.05) in Cox's proportional hazard analysis. Conclusion: Although serum vitamin D levels were severely low in terminally ill cancer patients, we found no association between severe vitamin D deficiency and patient survival.

• Clinical and Experimental Pediatrics
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• v.49 no.12
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• pp.1301-1307
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• 2006

Purpose : Hearing loss is one of the most common birth defects, and early detection and intervention positively impact language/speech and cognitive development. It has been reported that NICU graduates have a high incidence of hearing loss. So we investigated the incidence, risk factors and clinical outcome of hearing loss in NICU graduates. Methods : This study involved neonatal auditory brainstem response (ABR) testing of newborn infants who graduated from the NICU of Kyungpook National University Hospital during a 3-year period (between July 2002 and June 2005) and subsequent follow-up of these infants. Results : ABR evaluations were performed on 474 infants. Of these infants, 64 showed abnormal ABR (13.5 percent). Of 128 ears from these 64 infants, two ears (1.6 percent) and 10 ears (7.8 percent) were classified as severe and profound hearing loss, respectively. The infants with abnormal ABR had higher incidence of prematurity, low birth weight, very low birth weight, neonatal asphyxia, cranio-facial malformation and amikacin treatment over 15 days (P<0.05). In infants with hyperbilirubinemia, the peak level of serum bilirubin, duration of phototherapy and exchange transfusion were not associated with the higher incidence of hearing loss. Follow-up ABR evaluation was performed on 15 infants with abnormal ABR at $8.8{\pm}4.4months$. In follow-up ABR, 80.0% showed improvement or normalization of threshold sensitivity. Conclusion : NICU graduates exhibit high risk for hearing loss. Systemic and effective hearing assessment program is needed for these high risk infants.

• Journal of Chest Surgery
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• v.32 no.8
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• pp.702-708
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• 1999

Background: Surgical closure of the PDA in premature infants with complications or contraindications to indomethacin use, or recurrence of symptomatic PDA is a safe and effective procedure with low operative risk and minimal complications. Material and Method: From April 1996 to August 1998, 11 premature infants with body weight under 1.5 kg at operation underwent operation for a symptomatic PDA (male:5, female: 6). Associated dise ases were congenital heart disease(7), hyaline membrane disease(6), intraventricular hemor rhage(4), pneumonia(4), pneumothorax(3), hyperbilirubinemia(2), necrotizing enterocolitis(2), renal failure(1), epilepsy(1), and hydrocephalus(1). Surgical techniques are hemoclipping(8) and ligation(3). The size of PDA was 3~6 mm (5.0$\pm$1.2). Result: Systolic and diastolic blood pressure rised and heart rates decreased after PDA closure. ABGA improved postoperatively. There were no surgical complications. Six infants with improved ABGA data were weaned from mechanical ventilatory support. The follow-up durations after discharge were 3 month to 12 month. Five deaths were not related to operation. The causes of death were hyaline membrane disease(2), bronchopulmonary dysplasia with pneumonia(1), sepsis(1), and con gestive heart failure with respiratory distress syndrome(1). Conclusion: Early operative closure is the treatment of choice in most premature infants with a hemodynamically significant shunt(PDA), recurrence of symptomatic PDA, complications of Indomethacin, or contraindi cations to Indomethacin.

• Journal of Veterinary Clinics
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• v.39 no.5
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• pp.207-216
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• 2022

Canine babesiosis has been scarcely investigated in the Republic of Korea (ROK). Although it is known that Babesia gibsoni is its primary causative agent, its clinical presentation has not been completely clarified in the ROK. Consequently, the aim of this study was to evaluate the clinical appearance of this parasitic infection based on the anamnesis of the patient and compare of hematological and biochemical test results. Four hundred whole blood samples from patients with a presumptive diagnosis of tick-borne disease were analyzed by polymerase chain reaction (PCR) to amplify the Babesia spp. 18S rRNA gene and by a rapid diagnostic test kit (VetAll Laboratories^®) to detect B. gibsoni seroreactive animals. Thirty-six (9.0%) dogs were PCR-positive but only 24 (6.0%) were seropositive. The investigation revealed that all the courses of the disease are present in the ROK, with the acute course being predominant. The acute course tends to consist of inappetence, lethargy, pyrexia, gastrointestinal symptoms, and occasionally hematuria. It also occurs with common hematological abnormalities, such as thrombocytopenia and anemia, and to a lesser extent biochemical abnormalities, such as hyperbilirubinemia, hypoalbuminemia, and elevated liver enzymes. This research shows that B. gibsoni is an endemic hemoparasite capable of producing a variety of clinical manifestations in dogs. For its accurate diagnosis, a descriptive history of the clinical signs, hematology, and biochemical profile of the patient, along with a well-performing PCR assay, are essential. These findings will help in planning pragmatic preventive strategies against this potent threat in the ROK.