Causes Of Neonatal Cholestasis Research Articles

Role of indocyanine green-guided near-infrared fluorescence imaging in identification of the cause of neonatal cholestasis.

To evaluate the efficacy and safety of indocyanine green (ICG)-guided near-infrared fluorescence (NIRF) imaging during surgery to diagnose the cause of neonatal cholestasis (NC). Data on NC patients who underwent both NIRF with ICG and conventional laparoscopic bile duct exploration (the gold standard) at our institute from January 2022 to December 2022 were retrospectively analyzed. The patients' baseline characteristics and liver function outcomes were collected and analyzed, and the diagnostic consistency was compared between the 2 methods. In total, 16 NC patients were included in the study, comprising 8 (50%) male and 8 (50%) female patients, ranging in age from 42 to 93 days, with a median age of 54.4 ± 21 days. During surgery, all the patients underwent NIRF with ICG, followed by conventional laparoscopic bile duct exploration. Finally, 15 of the patients were diagnosed with biliary atresia (BA) (1 with type-I BA, and 14 with type-II BA). The other patient was diagnosed with cholestasis. The diagnostic results from fluorescence imaging with ICG were consistent with those from conventional laparoscopic bile duct exploration. ICG-guided NIRF is associated with an easy operation, less trauma, and good safety. Also, its diagnostic accuracy is similar to conventional laparoscopic bile duct exploration.

Biliary atresia.

Biliary atresia (BA) is a progressive inflammatory fibrosclerosing disease of the biliary system and a major cause of neonatal cholestasis. It affects 1:5,000-20,000 live births, with the highest incidence in Asia. The pathogenesis is still unknown, but emerging research suggests a role for ciliary dysfunction, redox stress and hypoxia. The study of the underlying mechanisms can be conceptualized along the likely prenatal timing of an initial insult and the distinction between the injury and prenatal and postnatal responses to injury. Although still speculative, these emerging concepts, new diagnostic tools and early diagnosis might enable neoadjuvant therapy (possibly aimed at oxidative stress) before a Kasai portoenterostomy (KPE). This is particularly important, as timely KPE restores bile flow in only 50-75% of patients of whom many subsequently develop cholangitis, portal hypertension and progressive fibrosis; 60-75% of patients require liver transplantation by the age of 18 years. Early diagnosis, multidisciplinary management, centralization of surgery and optimized interventions for complications after KPE lead to better survival. Postoperative corticosteroid use has shown benefits, whereas the role of other adjuvant therapies remains to be evaluated. Continued research to better understand disease mechanisms is necessary to develop innovative treatments, including adjuvant therapies targeting the immune response, regenerative medicine approaches and new clinical tests to improve patient outcomes.

Combined Predictors of Long-Term Outcomes of Kasai Surgery in Infants with Biliary Atresia.

Biliary atresia (BA) is the leading cause of neonatal cholestasis (25-45%). The primary treatment is hepatic portoenterostomy (Kasai procedure), but only 20-40% provide long-term benefits. This study aimed to develop a predictive model for surgical efficacy by comparing preoperative and early postoperative indicators in infants with different outcomes. We enrolled 166 infants with BA (93 girls, 73 boys) who underwent the Kasai procedure between September 2002 and December 2021, dividing them into favorable or adverse outcome groups. Over 40 parameters were measured, and the diagnostic significance of the prognostic model was evaluated. Kasai surgery was efficacious in 69 patients (42%) and non-efficacious in 97 (58%). Our model assesses efficacy by day 14 after surgery, improving on the <34 µmol/L direct bilirubin threshold established for 3-6 months after the procedure. Including the Desmet fibrosis score refined the model. Blood cholesterol below 5.41 mmol/L, direct bilirubin below 56.3 µmol/L on postoperative days 14±3, and a low Desmet score indicate a high probability of efficacious Kasai surgery in infants with BA.

Beta Thalassemia Presenting with Neonatal Cholestasis and Extensive Hemosiderosis: A Case Report

Neonatal cholestasis is caused by various forms of liver injury and has a complex etiological background. Among these, cases of severe cholestasis due to primary hemolytic disease are rare. Herein, we report a case in which thalassemia-induced severe hemolysis caused bile duct injury by hemosiderosis, with cholestasis occurring shortly after birth and lasting for &gt;4 months. In addition, complete recovery of liver pathology was observed both biochemically and histologically. Hence, clinicians should consider hemolytic disease as a rare cause of neonatal cholestasis in the differential diagnosis of neonates as well as the advisability of conservative treatment based on case progression.

Alagille syndrome and liver: an adult case report

BackgroundAlagille syndrome is a rare autosomal-dominant disorder, representing 10 to 15% of the causes of neonatal cholestasis with no gender predominance. The diagnosis is based on the association of liver, heart, eye, skeleton abnormalities, and characteristic facial appearance.Case presentationAn 18-year-old male patient, with a family history of benign recurrent intrahepatic cholestasis in a brother, was diagnosed at birth with bile duct paucity. He consulted in adulthood for cholestatic jaundice and pruritus. Physical exam found cutaneous jaundice, particular face, skeletal abnormality of fingers, posterior embryotoxon, and splenomegaly. An echocardiogram found cardiovascular abnormalities. The diagnosis of Alagille syndrome was made in front of five major criteria. A liver biopsy revealed a cirrhosis liver. Upper gastrointestinal endoscopy revealed grade II esophageal varices of portal hypertension. Laboratory tests revealed bicytopenia related to hypersplenism, hypoferritinemia, cytolysis with cholestasis, high bilirubin levels, low prothrombin time, hypoalbuminemia, decreased factor V activity, and hypocholesterolemia. The patient had vitamin K supplementation and was put on ursodeoxycholic acid, propranolol for the liver disease, a high protein hypercaloric diet for malnutrition, vitamin D supplementation and bisphosphonate for the osteoporosis, therapeutic abstention with monitoring for the asymptomatic cardiac disease. After a year of treatment, the patient had an overall health status improvement. Abdominal ultrasound found liver nodules. A biliary MRI showed a multinodular liver. The complement by CT hepatic angiography did not show any nodules while the MRI angiography revealed multiple dysplastic nodules. A liver biopsy was performed and found regenerative nodules.ConclusionThe treatment of Alagille syndrome is based on managing the cholestasis and its complications, especially pruritus because it can have a significant impact on quality of life. Due to the complexity of presentation and multi-organ involvement, management of cases with Alagille syndrome should be done by a multidisciplinary team. Liver disease is responsible for morbidity while cardiac disease is a mortality risk factor in this population.

Development and validation of a model for early diagnosis of biliary atresia

Background and aimsEarly diagnosis of biliary atresia (BA), particularly distinguishing it from other causes of neonatal cholestasis (NC), is challenging. This study aimed to design and validate a predictive model for BA by using the data available at the initial presentation.MethodsInfants presenting with NC were retrospectively identified from tertiary referral hospitals and constituted the model design cohort (n = 148); others were enrolled in a prospective observational study and constituted the validation cohort (n = 21). Clinical, laboratory, and abdominal ultrasonographic features associated with BA were assessed. A prediction model was developed using logistic regression and decision tree (DT) analyses.ResultsThree predictors, namely, gamma glutamyl transpeptidase (γGT) level, triangular cord sign (TC sign), and gallbladder abnormalities, were identified as factors for diagnosing BA in multivariate logistic regression, which was used to develop the DT model. The area under the receiver operating characteristic (ROC) curve (AUC) value for the model was 0.905, which was greater than those for γGT level, TC sign, or gallbladder abnormalities alone in the prediction of BA.ConclusionA simple prediction model combining liver function and abdominal ultrasonography findings can provide a moderate and early estimate of the risk of BA in patients with NC.

Neonatal cholestasis as the onset symptom of McCune-Albright syndrome: case reports and a literature review.

This study aimed to summarize and show the characteristics and evolutionary process of neonatal cholestasis caused by McCune-Albright syndrome (MAS), as neonatal cholestasis may be the initial manifestation of MAS before other classic clinical features appear. The clinical characteristics, treatment methods, and outcomes of three neonatal cholestasis cases caused by MAS in our center were retrospectively studied. In addition, all the reported cases of MAS combined with cholestasis were reviewed and summarized to show the cholestatic features in them. We have confirmed three MAS cases in our center, presenting onset symptoms of jaundice, pale stool, and neonatal cholestasis soon after birth. The cholestasis subsided spontaneously at around the sixth month. The literature review showed that the levels of total bilirubin, conjugated bilirubin, ALT, AST, and GGT in neonatal MAS cholestasis cases were 207 μmol/L (range 65-445 μmol/L), 162 μmol/L (range 46-412 μmol/L), 821 U/L (range 85-3,597 U/L), 532 U/L (range 127-3,633 U/L), and 244 U/L (range 79-3,800 U/L), respectively. Liver histology showed canalicular and hepatocellular cholestasis, giant hepatic cell transformation, and bile paucity. Extrahepatic manifestations such as café-au-lait pigmented skin lesions, Cushing's syndrome, hyperthyroidism, renal tubular dysfunction, and skeletal abnormalities could occur simultaneously when jaundice occurred. GNAS mutations had a high positive rate (83.3%-100%) in liver tissue with cholestasis. Neonatal cholestasis caused by MAS could be self-resolved, but hepatic lesions persist and have malignant potential. MAS can be one of the causes of neonatal cholestasis, which may be the first manifestation of the disease. Extrahepatic coexisting symptoms of MAS and liver histology can help to distinguish MAS from other etiology of cholestasis. Detecting GNAS mutations in liver tissue may shorten diagnostic time and is of particular interest in the partial and atypical forms of MAS with neonatal cholestasis. Neonatal cholestasis in children with MAS can self-resolve, but liver dysfunction and malignant lesions persist.

Recurrent subdural hematoma as presentation of neonatal biliary atresia: A case report

Biliary atresia is a congenital disorder of progressive and obliterative cholangiopathy, the most common cause of neonatal cholestasis, it can cause secondary vitamin-K deficiency bleeding due to the malabsorption of lipids and lipid-soluble vitamins due to cholestasis. We report a 46-day-old child presenting with cholestatic features complicated by subdural hematoma (SDH) and cerebral edema. On investigations, she was found to be having primary biliary atresia, for which she was operated but had a recurrence of the SDH on the opposite side.

Dubin Johnson Syndrome Masquerading as Biliary Atresia in a Neonate

Biliary atresia (BA), a surgical cause of neonatal cholestasis, needs timely intervention. A term male neonate presented with yellowish discoloration and pale stool on the third week of life, suspected as BA based on the liver function test and hepatobiliary iminodiacetic acid (HIDA) scan. His intraoperative cholangiogram was normal and finally diagnosed as a case of Dubin-Johnson syndrome (DJS) by whole exome sequencing. The baby became anicteric with the cholestasis regimen. DJS is one of the differential diagnoses of BA; genetic evaluation may be considered prior to an invasive cholangiogram in such cases.

Does amyloid β precursor protein gene expression have a role in diagnosis of biliary atresia?

Biliary atresia (BA) is an important cause of surgical jaundice. Although the precise etiology is unknown, β-amyloid (Aβ) has been observed around the bile ducts in BA livers. It is unclear whether Aβ plays a role in the pathogenesis of this disease. This study aims to assess the amyloid β precursor protein (APP) gene expression in infants with BA in comparison with other causes of neonatal cholestasis. This could help explore the role of Aβ in the pathogenesis and diagnosis of BA. A prospective study was conducted at the outpatient clinic of Paediatric Hepatology, Gastroenterology, and Nutrition Department, National Liver Institute, Menoufia University, Shebin El Kom, Menoufia, Egypt during the period March 2022 to December 2022. Clinical data were gathered and laboratory and radiological investigations were conducted including β precursor protein gene expression measured in liver biopsies of the three groups using quantitative real-time PCR (qPCR). Gene expression of APP was considerably higher in the BA group (p = 0.0001) compared to neonatal cholestasis (NC) patients. Gamma glutamyl transferase (GGT) and APP had a positive correlation (p = 0.001). No significant association was found between APP and fibrosis. APP was noticeably higher in BA than NC other than BA. Also, APP in BA was higher (statistically significant, p = 0.0001) than the control. There was no statistically significant difference among NC, BA, and control groups regarding APP (p = 0.07). Both males and females did not show significant differences as regards APP (p = 0.851). Age did not have a statistically significant correlation with APP (p = 0.532). Also, there were no correlations between APP and alkaline phosphatase (ALP), aspartate transaminase (AST), or total bilirubin (TB) (p > 0.05). We concluded that the development and identification of BA may depend on the liver expression of serum APP. Surgeons may be able to carry out early intraoperative cholangiography for BA confirmation if the combination of APP with GGT and other hepatic function parameters exhibits a high predictive potential as a diagnostic test for BA. To evaluate this hypothesis, more research with sizable sample numbers is necessary.

Neonatal Lupus presenting with neonatal hemochromatosis-like liver disease that responded to steroids: a case report

BackgroundNeonatal lupus erythematosus is a rare multisystem autoimmune disorder that predominantly involves the heart with congenital heart block but can involve other organs including the liver. The disease results from passage of maternal autoantibodies to the fetus and manifests in various forms depending on the organ involved. Neonatal lupus liver disease manifestations range from benign elevation in aminotransferases to fatal hepatic insufficiency with iron deposition that does not respond to therapy. Only a handful of cases have been reported to date. The antibodies implicated are Sjogren Syndrome types A and B antibodies. Other non-specific autoantibodies can be positive as well such as antinuclear antibodies. Smooth muscle antibodies are classically considered specific to autoimmune hepatitis, and while they have been described in other chronic liver diseases, they have not been described in neonatal lupus liver disease. Herein we report a rare case of neonatal cholestasis due to neonatal lupus liver disease that presented with a positive smooth muscle antibodies in addition to a biochemical picture of neonatal hemochromatosis, with a remarkably elevated ferritin, that responded well to steroid therapy. Case presentationAn 8-day old full-term baby girl was referred to our center for evaluation of neonatal bradycardia and generalized jaundice that started in the first day of life. Prenatal history was significant for fetal bradycardia. Examination was unremarkable except for bradycardia and generalized jaundice. Laboratory findings included elevated alanine aminotransferase, aspartate aminotransferase, Alkaline Phosphatase, and total and direct bilirubin. Her ferritin was markedly elevated along with triglycerides. Sjogren syndrome antibodies were positive in addition to antinuclear and anti-smooth muscle antibodies. The diagnosis of cardiac neonatal lupus was given, and her liver disease was attributed to lupus despite the biochemical picture of neonatal hemochromatosis. She was started on oral prednisolone for which her liver function parameters showed a dramatic response and continued to be within the normal limits several weeks after discontinuation of steroids.ConclusionNeonatal lupus liver disease is a rare cause of neonatal cholestasis that can rarely present with neonatal hemochromatosis picture which unlike other causes of neonatal hemochromatosis can be reversed with steroid therapy.

Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal.

Neonatal cholestasis (NC) starts during the first three months of life and comprises extrahepatic and intrahepatic groups of diseases, some of which have high morbimortality rates if not timely identified and treated. Prolonged jaundice, clay-colored or acholic stools, and choluria in an infant indicate the urgent need to investigate the presence of NC, and thenceforth the differential diagnosis of extra- and intrahepatic causes of NC. The differential diagnosis of NC is a laborious process demanding the accurate exclusion of a wide range of diseases, through the skillful use and interpretation of several diagnostic tests. A wise integration of clinical-laboratory, histopathological, molecular, and genetic evaluations is imperative, employing extensive knowledge about each evaluated disease as well as the pitfalls of each diagnostic test. Here, we review the difficulties involved in correctly diagnosing the cause of cholestasis in an affected infant.

Investigating the genetic profile of familial atypical cystic fibrosis patients (DeltaF508-CFTR) with neonatal biliary atresia.

Biliary atresia (BA) is a progressive inflammatory process of the biliary tree resulting in biliary obstruction. No single known genetic or environmental factor has been established to cause BA. Cystic fibrosis (CF) is a rare cause of neonatal cholestasis, and it has never been described in familial BA cases. Here, we investigate two siblings of first-degree consanguineous parents presenting with neonatal BA. Shortly after the Kasai operation, the proband developed severe respiratory symptoms attributable to a missed CF diagnosis. This was discovered after re-investigating the family history, which revealed a first-degree cousin with CF who did not manifest BA. Afterwards, we identified a pathogenic variant (DeltaF508) in CFTR in both BA-affected siblings along with their cousin. This intrigued us to study the molecular etiology behind the familial BA presentations, which exclusively contributed to BA-pathogenesis in BA-CF-affected siblings and not in their CF-only affected cousin. We applied a multistep approach to investigate the variant profile of both siblings' and their cousin's exomes. We curated the genes whose variants were shared by the BA-CF siblings but absent or heterozygous in their CF-only-affected cousin. Consequently, we identified three candidate genes (SNAPC4, UCK1, and ZHX2) besides CFTR. We propose that these genes act cumulatively or individually in inducing BA-pathogenesis-either by aggravating the biliary damage in the context of CF or increasing the susceptibility of BA as a separate CF-comorbidity. To our knowledge, this is the first report of DeltaF508 in CFTR with familial neonatal BA cases.

S3001 Fighting the Odds: A 31-Year-Old Long-Term Survivor of a Kasai Procedure With a Native Liver

Introduction: Congenital biliary atresia is a leading cause of neonatal cholestasis and is a common indication for liver transplantation world wide. The Kasai is a surgical procedure (hepatoportoenterostomy) involving radical excision of the biliary ducts and helps reestablish bile flow and attempts to prevent biliary cirrhosis. Surgical correction can prolong life but almost 80% of patients will require a liver transplant and almost half require surgery before the age of 2. The 20 year survival rate with native liver is less than 45%. We present a unique case of a 31 year old male with biliary atresia who underwent the Kasai Procedure and has still not required a liver transplant despite his age. Case Description/Methods: This is a 31 year old male with a known history of having biliary atresia status post Kasai procedure performed at (5 weeks old) presented for evaluation of abdominal pain. On the physical exam, he had jaundice and abdominal distention. His labs were pertinent for a total bilirubin of 3.1, alkaline phosphatase 187, AST 50, ALT 84, platelets 88, INR of 1.07 and albumin 4.2. An MRCP was performed to rule out cholangitis which showed postoperative changes of Kasai procedure, minimal intrahepatic duct dilation with marked left lobe atrophy and sequelae of hypertension. He was treated with a course of intravenous antibiotic therapy and was diagnosed with cholangitis secondary to biliary stasis from his previous Kasai procedure. He was later followed by a Hepatologist who performed a fibroscan and diagnosed the patient with F4 fibrosis with Steatosis of S1 consistent with cirrhosis. His MELD score was noted to be 10 and he was placed on ursodiol. A screening EGD was performed which showed grade 2 esophageal varices. The patient’s plan is to eventually undergo a liver transplant in the near future. (figure) Discussion: Common complications of patients with a prior Kasai include recurrent cholangitis, portal hypertension, and synthetic liver dysfunction which was seen in our patient. Prior case reports have shown that very few patients have survived longer than 20 years without a liver transplant. It is important for gastroenterologists to know the long term side effects and complications that can be seen in these patients as they transition to adulthood. Our case highlights a rare case of a 31 year old male who survived against all odds and still has not required a liver transplant. To our knowledge and after an extensive literature review, this is the longest survivor to date in the US.Figure 1.: MRCP showing evidence of Kasai Procedure.

Rolling stones: an instructive case of neonatal cholestasis

BackgroundJaundice within the first 1–2 weeks of a neonate’s life will generally self-resolve; however, if it lasts longer than this time frame it warrants further work up. Direct or conjugated hyperbilirubinemia can suggest neonatal cholestasis, which in turn reflects marked reduction in bile secretion and flow. The differential diagnosis for neonatal cholestasis is broad. Neonatal choledocholithiasis is a rare cause of neonatal cholestasis, but should be considered on the differential diagnosis for patients presenting with elevated conjugated bilirubin.Case presentationWe describe an infant who presented with neonatal cholestasis. He subsequently underwent work up for biliary atresia, as this is one of the more time-sensitive diagnoses that must be made in neonates with conjugated hyperbilirubinemia. He was ultimately found to have choledocholithiasis on magnetic resonance cholangiopancreatography. He was managed conservatively with optimizing nutrition and ursodeoxycholic acid therapy.ConclusionsWe found that conservative management, specifically optimizing nutrition and treating with ursodeoxycholic acid, can be a sufficient approach to facilitating resolution of the choledocholithiasis and conjugated hyperbilirubinemia.

Demographic Characteristics of Children with Biliary Atresia in dr. Kariadi General Hospital, Semarang

Background: Biliary atresia (BA) is a progressive fibrosing obstructive cholangiopathy involving both the intrahepatic and extrahepatic biliary system; resulting in obstruction of bile flow and neonatal jaundice. Early diagnosis of biliary atresia and Kasai procedure improves patients outcome. Data form several studies revealed that BA is the most common cause of neonatal cholestasis (25%) and the leading cause of end-stage liver disease in pediatric population. The aim of this study is to determine the outcome and characteristics of children with biliary atresia in dr. Kariadi General Hospital, Semarang.&#x0D; Methods: In this study, a retrospective database analysis of 80 infants diagnosed with biliary atresia was conducted. Patient’s demographic data including age, sex, age at disease onset, were collected from year 2018 to 2022; including all comorbidities and complications. Data regarding procedure performed for each patient and their outcome were included in this study. &#x0D; Results: Eighty children were included in this study. The mean age of children referred with biliary atresia was 1.89 month, while the mean age at diagnosis was 2.5 month. Most of the patients were girls. The incidence of cytomegalovirus infection comorbidity in patients with biliary atresia is quite high, which were reported at 82%. Children diagnosed with biliary atresia and cytomegalovirus infection resulted in worse prognosis than those without.&#x0D; Conclusion: Our study support the theories that biliary atresia may be caused by the exposure of external environment during perinatal period such as viral infection. The prognosis of patients with cytomegalovirus comorbidity is worse than that without.

Neonatal Cholestasis: The Changing Etiological Spectrum in Pakistani Children.

Objectives: To determine the frequency of clinical presentation and laboratory profile in the diagnosis of the etiological spectrum of neonatal cholestasis.Material and methods: In this prospective cross-sectional study, we recruited children who presented with jaundice and direct hyperbilirubinemia with onset in the first three months of life. The study was conducted between April 2019 to March 2021 (24 months) at the Government Lady Reading Hospital of Khyber Pakhtunkhwa province in Pakistan. The diagnosis was based on history and clinical findings that included jaundice, stool color, itching, abdominal distention, and deranged liver function tests and confirmed on liver biopsy and specific diagnostic tests. Data was recorded and analyzed using SPSS version 20 (IBM Corp., Armonk, NY).Results: A total of 90 children were included in the study, out of which 65.6% were male. The average age was recorded as 118.01 days + 118.1 SD. Jaundice, dark urine, and hepatomegaly were found in 85.6% of children while ophthalmologic disorder, congenital heart disease, and itching were the least common symptoms. Laboratory findings of the cholestasis patients showed high bilirubin (mean: 8.88 mg/dL), alanine transaminase (ALT) (mean: 177.48 IU/mL), aspartate transaminase (AST) (mean: 187.11 IU/mL), gamma-glutamyl transpeptidase (GGT) (mean: 187.66 IU/mL) and prolonged international normalized ratio (INR) (mean: 2.20) in majority of patients. The genetic and metabolic disorder was the leading cause found in the majority of children, which was 43.8%.Conclusion: The common causes of neonatal cholestasis in this study are galactosemia, idiopathic hepatitis, and biliary atresia. The common presentation includes jaundice, hepatomegaly, direct hyperbilirubinemia, raised liver enzymes, and INR.

Biliary Atresia: GGT vs Histopathology as Diagnostic Tool

Background: Biliary Atresia (BA) also known as "progressive obliterative cholangiopathy" is one of the most common conditions requiring pediatric liver transplant and the most common surgically treatable cause of neonatal cholestasis. Associated malformations are present in 25% of cases and it is most common in East Asia, with incidence reported as high as one in 5,000. BA presents with cholestatic Jaundice, initially indistinguishable from physiological jaundice. Symptoms include progressive cholestasis, causing yellowing of the skin, pruritis, pale stools, dark urine.&#x0D; Methods: This study is a Cross sectional study conducted at the Department of Pediatric Medicine, The Children’s Hospital &amp; Institute of Child’s Health, Lahore in the duration of 6 months (2018-2019), after approval from the Institution’s Review Board. All patients of age ≤ 14 months, presenting in pediatric emergency with cholestatic jaundice and fulfilling inclusion criteria were included in this study.&#x0D; Results: In our study a total of 150 cases were enrolled. The mean age of patients in months was 7.13 ± 3.81. The male to female ratio of the patients was 1.3:1, 86(57.33%) males and 64(42.67%) females. The results showed that the mean initial observation of jaundice was 8.54 ± 3.89 days with minimum and maximum duration of 2 &amp; 15 days, respectively. In our study the mean GGT level of the patients was 303.13 ± 58.53. In our study, on the basis of GGT level BA was diagnosed positive in 83 cases and negative in 67 cases, which was exceptionally consistent with the gold standard i.e. histopathology which diagnosed 82 cases as positive for BA and labelled 68 cases negative.&#x0D; Conclusion: Serum GGT elevated levels are suggestive of biliary atresia.

NISCH Syndrome as a cause of Neonatal Cholestasis - a case report from India.

Background and Aim: Neonatal Ichthyosis Sclerosing Cholangitis (NISCH) syndrome is a rare autosomal recessive condition characterized by neonatal Ichthyosis, neonatal cholestasis, alopecia and sclerosing cholangitis. It has been described in only 20 patients from 11 different families worldwide. To expand the understanding of this syndrome as a molecularly confirmed case from India, we briefly summarize the knowledge of this entity.

Diagnostic Imaging of Biliary Atresia

담도폐쇄증은 신생아 담즙 정체의 드물지만 중요한 원인이다. 적절한 치료와 예후를 위해서는 정확한 조기 진단이 중요하다. 본 종설에서는 초음파 검사, MRI, 간담도 핵의학스캔, 담관조영술 등의 영상 검사에서 담도폐쇄증의 영상 소견을 검토하였다. 지금까지 알려진 주요 영상의학적 소견들은 담낭의 비정상적인 모양과 크기, 간문맥 주변의 비후를 나타내는 ‘triangular cord’ sign, 총담관이 보이지 않고, 간동맥 혈류가 증가하는 소견 등과 함께 동반된 기형의 유무들을 보이는 것이다. 담도폐쇄증의 진단을 위해 초음파 검사, MRI, 간담도 핵의학스캔, 담관조영술 등의 여러 영상 검사들을 시행하며, 1차 영상 검사로 초음파 검사가 중요하다. 본 종설에서는 각 영상 검사들에서 지금까지 알려진 담도폐쇄증의 소견들과 함께 조기 신생아기에서 담도폐쇄증 진단의 어려움, 그리고 간 섬유화를 예측하기 위한 영상의 역할도 검토하였다. 본 종설이 담도폐쇄증 진단에 도움이 되길 바란다.