A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis / 대한소아소화기영양학회지

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.

A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis / 대한소아소화기영양학회지

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.

A Case with Rotor Syndrome in Hyperbilirubinemic Family / 대한소화기학회지

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.

Usefulness of Hepatobiliary Scan with 99mTc- DISIDA in Laparoscopic Cholecystectomy by one Inexperienced Surgeon

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.

Pretreatment with Ursodeoxycholic Acid (UDCA) as a Novel Pharmacological Intervention in Hepatobiliary Scintigraphy

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.

Two Cases of Rotor Syndrome in Siblings / 소아과

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.

The effect of phenobarbital on the accuracy of technetium-99m diisopropyl iminodiacetic acid hepatobiliary scintigraphy in differentiating biliary atresia from neonatal hepatitis syndrome.

Biliary atresia (BA) and neonatal hepatitis syndrome (NHS) are major causes of cholestatic jaundice in infancy. Technetium-99m diisopropyl iminodiacetic acid hepatobiliary scintigraphy (99mTc-DISIDA scan) is widely used in the differentiation of these two entities. The objective of this study was to evaluate the effect of phenobarbital premedication on the accuracy of 99mTc-DISIDA scan. Ninety-five cholestatic infants (38 females and 57 males) with an age range of 2 weeks to 4 months (mean 2.1 mo) who underwent 99mTc-DISIDA scan testing were retrospectively reviewed. The patients were divided into 3 groups according to the history of phenobarbital administration prior to 99mTc-DISIDA scan examination. Group 1 (n = 48), group 2 (n = 29), and group 3 (n = 18) received phenobarbital at the dosage of 5 mg/kg/day for at least 5 days, less than 5 mg/kg/day or less than 5 days, and no premedication, respectively. The accuracy of 99mTc-DISIDA scan in differentiating BA from NHS in group 1, 2, and 3 was 72.92 per cent, 89.66 per cent, and 100 per cent, respectively. No significant difference was seen between the patients who received and did not receive phenobarbital in terms of age at presentation, age at onset of jaundice, and liver function tests. In conclusion, phenobarbital therapy may not be necessary prior to 99mTc-DISIDA scan examination in the evaluation of cholestatic infants and thus a delay in diagnosis and surgical therapy of BA can be avoided.

Usefulness of MR Cholangiography in the Evaluation of Neonatal Cholestasis: Comparison with 99mTc DISIDA Scan

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.

Bile Peritonitis Due to Spontaneous Rupture of Choledochal Cyst iagnosed by Hepatobiliary Scintigraphy in an Infant / 대한소아소화기영양학회지

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.

Two Cases of Rotor Syndrome in Siblings / 대한소아소화기영양학회지

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.

Gallbladder Ejection Fraction Using 99mTc-DISIDA Scan in Diabetic Autonomic Neuropathy / 대한핵의학회잡지

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). 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.

A case of rotor syndrome / 대한내과학회지

Rotor syndrome is a rare benign familial disorder characterized by chronic, fluctuating, nonhemolytic and predominantly conjugated hyperbilirubinemia with normal liver tissue. In contrast to Dubin-Johnson syndrome, there is no liver hyperpigmentation in Rotor syndrome, and BSP clearance does not show a secondary retention peak. The serum bilirubin in patients with Gilbert's syndrome is almost all unconjugated in contrast to Rotor syndrome. A 29-year-old male was admitted due to persistent jaundice. Physical examination revealed icteric sclera without hepatosplenomegaly. Laboratory findings showed increased serum bilirubin with indirect bilirubin predominance. Urinary excretion of total coproporphyrin was markedly elevated, and coproporphyrin I was 66% of total urinary coproporphyrin. Oral cholecystography showed well visualized the gallbladder, but 99mTc-DISIDA scan showed markedly decreased hepatic uptake and poor visualization of the gallbladder and biliary tract. Histology of the liver showed no abnormal finding. We report the case with the review of literature.

Measurment of Functioning Hepatocyte Mass using Cardiac Blood Pool Clearance Rates of 99mTc-DISIDA

PURPOSE: The authors investigated the ability of cardiac blood pool clearance rates(CBCR) of 99mTc-DiSiDA in the measure merit of functioning hepatocyte mass. MATERIALS AND METHODS: We measured the volume of Iobectomized liver after completion of postoperative scanning with CBCR of 99rnTc-DISIDA in 5 rabbits who the functional hepatic Iobectomy performed by ligation of hepatic artery, portal vein and biliary tracts. Regarding the measurement of CBCR of 99mTc-DISIDA, we set the time which was decreased to the half of the clearance amount of the cardiac radioactivity by hepatic extraction of 99mTc-DISIDA at the point of 50 sec after the renal peak of the radioactivity to prevent confusing with the blood dilution of the radioactivity, that have called DI-K50. RESULTS: The results were followed that the volumes of the functional hepatic Iobectomy in 5 rabbits were 25%, 25%, 41%, 52%, 75% and the residual functioning hepatocyte masses measured by CBCR of 99rnTc-DISIDA were preserved to 75. 1%, 70. 8%, 63. 0%, 52. 2%, 30. 8% respectively. CONCLUSION: we made decision that CBCR of 99rnTc-DISlDA was useful to evaluate the functioning hepatocyte mass.

Anomalous Position of the Gallbladder

PURPOSE: To determine the significance of anomalous position of the gallbladder. MATERIALS AND METHODS: Sixteen patients with anomalous position of the gallbladder were evaluated for analysis. The diagnosis was confirmed by ultrasonography(15 patients) and oral cholecystography(1patient). Among those, six patients underwent CT scan and a patient had 99mTc-DISIDA scan. The images were analysed with respect to the location of the GB and configuration and associated abnormality of the liver and hepatobiliary systems. Medical records of each patient were also reviewed. RESULTS: Among 16 patients having an anomalous position of the gallbladder, nine had retrodisplaced gallbladder, four had left-sided gallbaldder, two had suprahepatic gallbladder, and one had floating gallbladder. Except for one patient, fifteen had abnormality in the liver such as focal atrophic or hypoplastic change and liver cirrhosis. Intrahepatic stones were demonstrated in 6 patients. CONCLUSION: Our results showed that anomalous position of the gallbladder was commonly associated with atrophy or hypoplasia of the liver rather than congenital in origin. The possiblity of an anomalous location of gallbladder should be kept in mind when GB is not in its normal location.

Clinical characteristics in patients with biliary obstruction diagnosed by 99mTc-DISIDA scan: in 9 cases with normal ultrasonography findings / 대한핵의학회잡지

No abstract available.

Estimation of the arterial fraction of total hepatic flow from radionuclide angiogram using 99mTc-DISIDA / 대한핵의학회잡지

No abstract available.

A Case of Rotor Syndrome / 영남의대학술지

Rotor syndrome is a rare disease of hereditary hyperbilirubinemia transmitted with autosomal recessive trait. In general, Rotor syndrome shows direct hyperbilirubinemia and there has been several reports since Sons's report in 1966, in Korea. A 34-year-old female was admitted with the chief complaint of intermittent icteric sclera for 24 years. There was no family history of jaundice. Rotor syndrome was diagnosed by oral cholecystogram, BSP retention test, 99mTc-DISIDA scan, liver biopsy and electron microscopy study of liver biopsy specimen. We report this case with brief review of the literature.

Uptake of 99mTc - DISDA in Primary Hepatocellular Carcinoma and Metastatic Nodule in the Lung / 영남의대학술지

Recently, several reports of extrahepatic hepatocellular carcinoma metastasis demonstrated by technetium-99mTc-IDAs scan have shown that 99mTc-IDAs can be used to detect extrahepatic metastasis in hepatocellular carcinoma. We report here a case of hepatocellular carcinoma with pulmonary nodules that were demonstrated as metastasis in nature by the use of the 99mTc-DISIDA. The findings in this case and several reports reviewed here suggest that the 99mTc-DISIDA scan may be a useful diagnostic agent that can detect the extrahepatic metastasis of hepatocellular carcinoma and stage the disease. But more clinical study in needed to establish the position of 99mTc-DISIDA in the field of diagnosis of extrahepatic hepatocellular carcinoma.

A Case Report of Choledochal Cyst / 대한소화기내시경학회지

Congential bile duct cysts, the so called "choledochal cysts" occur at all levels of the biliary tree and may be of saccular, diverticular, or fusiform configuration. There are 6 types of choledochal cysts proposed by todani et al based on roentgenologic and operative findings. This disease is usually diagnosed at the childhood or early adult life and predilection for orientals. Clinical manifestations are usually jaundice, right upper quadrant abdominal pain and abdominal mass. Here we are reporting a case of choledochal cyst, type IV-A diagnosed by abdominal ultrasonogram. 99mTc-DISIDA hepatobiliary scan and endoscopic retrograde cholangiopancreatogram.