Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons of the bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) gene. The synthesis of inactive isoforms of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (B-UGT) results in unconjugated hyperbilirubinemia. A 13-year-old boy with jaundice for 4 months was admitted to our hospital. He had unconjugated hyperbilirubinemia with no evidence of infection, hemolysis, or structural abnormalities on abdominal ultrasonography or 99mTc-DISIDA scan. The authors identified a missense mutation of Tyr486Asp in the fifth exon of the UGT1A1 gene and diagnosed the patient with Crigler-Najjar syndrome type II. This is the first reported case of Crigler-Najjar syndrome in a Korean child, and it is also the first reported case of a genetic mutation leading to Crigler-Najjar syndrome in Korea.
Adolescent ; Bilirubin ; Child ; Crigler-Najjar Syndrome ; Exons ; Glucuronosyltransferase ; Hemolysis ; Humans ; Hyperbilirubinemia ; Jaundice ; Mutation, Missense ; Protein Isoforms ; Technetium Tc 99m Disofenin

Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons of the bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) gene. The synthesis of inactive isoforms of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (B-UGT) results in unconjugated hyperbilirubinemia. A 13-year-old boy with jaundice for 4 months was admitted to our hospital. He had unconjugated hyperbilirubinemia with no evidence of infection, hemolysis, or structural abnormalities on abdominal ultrasonography or 99mTc-DISIDA scan. The authors identified a missense mutation of Tyr486Asp in the fifth exon of the UGT1A1 gene and diagnosed the patient with Crigler-Najjar syndrome type II. This is the first reported case of Crigler-Najjar syndrome in a Korean child, and it is also the first reported case of a genetic mutation leading to Crigler-Najjar syndrome in Korea.
Adolescent ; Bilirubin ; Child ; Crigler-Najjar Syndrome ; Exons ; Glucuronosyltransferase ; Hemolysis ; Humans ; Hyperbilirubinemia ; Jaundice ; Mutation, Missense ; Protein Isoforms ; Technetium Tc 99m Disofenin

Rotor syndrome is a rare, benign familial disorder characterized by chronic fluctuating, nonhemolytic and predominantly conjugated hyperbilirubinemia with normal hepatic histology. In contrast to Dubin-Johnson syndrome, there is no liver pigmentation in Rotor syndrome. A 36-year-old man was admitted due to asymptomatic persistent jaundice. His siblings had jaundice with direct hyperbilirubinemia. Physical examination revealed icteric sclerae without hepatosplenomegaly. Laboratory findings showed increased serum bilirubin with direct bilirubinmia. Hepatic uptake and storage capacity of indocyanine green was markedly reduced, while excretion into bile was slightly suppressed. Markedly decreased hepatic uptake and poor visualization of the gallbladder and biliary tract were shown in 99mTc-DISIDA scan. Histology of the liver showed mild steatosis without pigmentation. We report a case with the review of literature.
Adult ; Coloring Agents/*diagnostic use/pharmacokinetics ; Humans ; Hyperbilirubinemia, Hereditary/diagnosis/genetics/radionuclide imaging ; Indocyanine Green/*diagnostic use/pharmacokinetics ; Jaundice, Chronic Idiopathic/*diagnosis/radionuclide imaging ; Liver/radionuclide imaging ; Liver Function Tests ; Male ; Radiopharmaceuticals/*diagnostic use ; Technetium Tc 99m Disofenin/*diagnostic use

PURPOSE: This study examined 50 cases of laparoscopic cholecystectomy performed by a single inexperienced surgeon to determine the usefulness of a hepatobiliary scan with 99mTc-DISIDA as the contributing factor related to the conversion to an open cholecystectomy. METHODS: From July 2004 to June 2005, 34 patients, who underwent a laparoscopic cholecystectomy by an inexperienced surgeon, were evaluated. The effectiveness of a hepatobiliary scan with 99mTc-DISIDA as preoperative evaluation was also examined. The patients were divided into 3 groups according to the hepatobiliray scan findings: group A had normal findings, group B had decreased gallbladder contraction and group C had gallbladder nonvisualization. The patients' charts, age, gender, previous history of abdominal operation, preoperative laboratory data, preoperative ultrasound findings, pathologic findings, conversion rate to open cholecystectomy, surgical complication and hospital stay were reviewed. RESULTS: The mean age was 52.7 years and the male-to- female ratio was 1 : 1.3. All 34 were diagnosed with a gallbladder stone in the preoperative ultrasound. The number of patients in group A, B, and C was 11, 15, and 8, respectively. The conversion rate was 0%, 0%, and 37%, respectively. The mean length of hospital stay was 5.5, 5.5, and 8 days in group A, B and C, respectively. CONCLUSION: The conversion rate and hospital stay decreased in laparoscopic cholecystectomy as the surgical experience increased with the increasing number of cases. However, the conversion rate was still high in the inexperienced surgeon. A preoperative hepatobiliary scan with 99mTc- DISIDA allows inexperienced surgeons to predict the thickening of the gallbladder wall, inflammation and the anatomic conditions of the gallbladder, and discuss the high risk of conversion preoperatively.
Cholecystectomy ; Cholecystectomy, Laparoscopic* ; Cholecystitis ; Female ; Gallbladder ; Humans ; Inflammation ; Length of Stay ; Technetium Tc 99m Disofenin ; Ultrasonography

The purpose of this volunteer study was to investigate whether pretreatment with UDCA before the administration of 99mTc DISIDA affects the biliary excretion of the DISIDA, and whether it can shorten the total imaging time. Ten young, healthy volunteers (eight males, two females, mean age: 26.3 +/- 2.1 years) participated in the study. Hepatobiliary scintigraphies were performed twice per volunteer within three days, for the control and the UDCA-pretreated studies. In the control study, the gallbladder (GB) was observed first in four cases and the intestine was observed first in another four cases; in contrast, in the UDCA challenge study, the GB was observed first in eight cases. The quantitative results for the factors related to the GB differed significantly between the control and challenge studies. When the subjects were pretreated with UDCA, the time duration until visualization of the GB was shortened, and the maximum activity of the GB became more intense. In conclusion, UDCA pretreatment before hepatobiliary scintigraphy can shorten the total imaging time for evaluating functional obstructions of the cystic duct and increase the specificity of the process.
Adult ; Biliary Tract/*radionuclide imaging ; Female ; Humans ; Liver/*radionuclide imaging ; Male ; Radionuclide Imaging/*methods ; Radiopharmaceuticals/*pharmacokinetics ; Technetium Tc 99m Disofenin/*pharmacokinetics ; Ursodeoxycholic Acid/*pharmacology

Rotor syndrome is a rare benign familial disorder characterized by chronic, fluctuating, nonhemolytic and predominantly direct bilirubinemia with normal liver tissue. We have recently experienced two cases of Rotor syndrome in a brother and sister. They revealed icteric sclerae with mild hepatomegaly in physical examination. Laboratory findings showed increased serum bilirubin with direct bilirubin predominance. The urinary excretion of total coproporphyrin was slightly elevated. The 99mTc-DISIDA scan showed a markedly decreased hepatic uptake and poor visualization of gallbladder and biliary tree which could be compatible to the Rotor syndrome. We report two cases with a review of the literature.
Biliary Tract ; Bilirubin ; Gallbladder ; Hepatomegaly ; Humans ; Hyperbilirubinemia ; Hyperbilirubinemia, Hereditary* ; Liver ; Physical Examination ; Sclera ; Siblings* ; Technetium Tc 99m Disofenin

PURPOSE: To evaluate the diagnostic validity of MR cholangiography as a second-line imaging tool following sonography in the evaluation of neonatal cholestasis, we compared MR cholangiography with 99mTc DISIDA scan. MATERIALS AND METHODS: We retrospectively evaluated sonography, 99mTc DISIDA scan and MR cholangiography in twenty-two neonates and infants (age range, 23-103 days; mean age, 57 days) presenting with conjugated hyperbilirubinemia. Of the 22 patients, 15 were diagnosed as biliary atresia by operative cholangiography and liver biopsy and six as neonatal hepatitis by imaging finding and clinical data. Remaining one patient was diagnosed as neonatal hepatitis by operative cholangiography and liver biopsy. Two independent observers for each study were assigned to review the images of 99mTc DISIDA scan and MR cholangiography without giving the final diagnosis or other clinical data. Diagnostic accuracy and interobserver variability for each study were evaluated. RESULTS: On 99mTc DISIDA scan, biliary atresia was mistaken for neonatal hepatitis in eight patients and vice versa in four patients. On MR cholangiography, it was mistaken biliary atresia as neonatal hepatitis and vice versa in each two patients. Sensitivity, specificity, accuracy, positive and negative predictive values of 99mTc DISIDA scan were 48%, 47%, 48%, 66% and 30%, respectively, and those of MR cholangiography were 90%, 71%, 84%, 87% and 81%, respectively. Interobserver variabilities for 99mTc DISIDA scan and MR cholangiography were 0.62 and 0.85, respectively. CONCLUSION: In the evaluation of patients with neonatal cholestasis, it would be advisable to use MR cholangiography, having superior diagnostic accuracy to 99mTc DISIDA scan, as a second-line imaging tool following sonography.
Biliary Atresia ; Biopsy ; Cholangiography* ; Cholestasis* ; Diagnosis ; Hepatitis ; Humans ; Hyperbilirubinemia ; Infant ; Infant, Newborn ; Liver ; Observer Variation ; Retrospective Studies ; Sensitivity and Specificity ; Technetium Tc 99m Disofenin*

We experienced two cases of Rotor syndrome in brothers who were a 13 year-old boy and an 11 year-old boy, respectively. They presented with icteric scleras for a few months. Their common laboratory characteristics were as follows: Direct bilirubin was more increased than indirect bilirubin, but aminotransferases were normal. Plasma indocyanine green (ICG) test revealed hepatic excretory defect: plasma ICG concentrations 15 minutes after intravenous injection were 80.45% and 78.28%, respectively. 99mTc-DISIDA Hepatobiliary scan showed that severely decreased hepatic extraction with mild cardiac blood pool, markedly delayed biliary excretion in both intra- & extra- hepatic bile ducts, delayed visualization of gall bladder, and markedly delayed intestinal biliary passage. Needle liver biopsy showed normal hepatic histology without pigmentation.
Adolescent ; Bile Ducts ; Bilirubin ; Biopsy ; Child ; Humans ; Hyperbilirubinemia, Hereditary* ; Indocyanine Green ; Injections, Intravenous ; Liver ; Male ; Needles ; Pigmentation ; Plasma ; Sclera ; Siblings* ; Technetium Tc 99m Disofenin ; Transaminases ; Urinary Bladder

Choledochal cyst is a congenital anomaly with classic triad of abdominal pain, jaundice and right upper abdominal mass. Bile peritonitis caused by cyst rupture is relatively not rare in infancy. The mechanism of rupture must be epithelial irritation of the biliary tract by refluxed pancreatic juice caused by pancreatico-biliary malunion associated with mural immaturity in infancy, rather than an abnormal rise in ductal pressure or congenital mural weakness at a certain point. We experienced a case of bile peritonitis caused by spontanenous rupture of choledochal cyst in a 10-month-old girl presented with abdominal distension, persistent fever, diarrhea, irritability and intractable ascites. She was presumed as having bile peritonitis by bile colored ascitic fluid with elevated bilirubin level and diagnosis was made by 99mTc DISIDA hepatobiliary scan showing extrahepatic biliary leak. The perforated cyst was surgically removed and the biliary tree was reconstructed with a Roux-en-Y hepaticojejunostomy.
Abdominal Pain ; Ascites ; Ascitic Fluid ; Bile* ; Biliary Tract ; Bilirubin ; Choledochal Cyst* ; Diagnosis ; Diarrhea ; Female ; Fever ; Humans ; Infant* ; Jaundice ; Pancreatic Juice ; Peritonitis* ; Radionuclide Imaging* ; Rupture ; Rupture, Spontaneous* ; Technetium Tc 99m Disofenin

PURPOSE: We performed this study to evaluate the changes of gallbladder ejection fraction (GBEF) in diabetic patients with or without autonomic neuropathy. MATERIALS AND METHODS: This study included 37 diabetic patients (25 women, 12 men, mean age 51 years) and 24 normal controls (10 women, 14 men, mean age 38 years). After intravenous injection of 185 MBq of 99mTc-DISIDA, serial anterior abdominal images were acquired before and after fatty meal. Regions of interest were applied on gallbladder and right hepatic lobe on 60 and 90 minute images to calculate GBEF. RESULTS: GBEF was significantly reduced in diabetes with autonomic neuropathy (43+/-12.3%) and without autonomic neuropathy (57.5+/-13.2%) compared with normal controls (68+/-11.6%, p <0.05). And also, GBEF was significantly reduced in diabetes with autonomic neuropathy compared with diabetes without autonomic neuropathy (p <0.05). Fasting blood glucose level, age, sex, hemoglobin A1c, body mass index, serum lipid level were not different in these two diabetic patient groups (p>0.05). When 50.2% of GBEF was used as the criteria for diabetic autonomic neuropathy, the sensitivity and specificity were 80%, 76.5%, respectively. The area under receiver operating characteristic curve was 0.846. CONCLUSION: GBEF of diabetic patients with autonomic neuropathy was significantly reduced than that of diabetic patients without autonomic neuropathy.
Blood Glucose ; Body Mass Index ; Diabetic Neuropathies* ; Fasting ; Female ; Gallbladder* ; Humans ; Injections, Intravenous ; Male ; Meals ; ROC Curve ; Sensitivity and Specificity ; Technetium Tc 99m Disofenin*