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Differential diagnosis of neonatal cholestasis

Abdelmoneim Em Kheir, Wisal Ma Ahmed, Israa Gaber, Sara Ma Gafer, Badreldin M Yousif
Cholestasis in early infancy represents a diagnostic dilemma and most of these infants suffer either from extrahepatic biliary atresia or idiopathic neonatal hepatitis. Differentiation between the two conditions may be extremely difficult both clinically and biochemically, and a diagnostic liver biopsy is usually required. We report on a Sudanese infant who presented at the age of 4 weeks with prolonged cholestatic jaundice, abdominal ultrasound was inconclusive, HIDA scan was suggestive of extrahepatic biliary atresia and the diagnosis of idiopathic neonatal hepatitis was only reached by liver biopsy...
2016: Sudan J Paediatr
Gurleen Wander, Francesa Neuberger, Mandish K Dhanjal, Catherine Nelson-Piercy, May Ching Soh
Most published cases of cytomegalovirus infection in pregnancy relate to congenital abnormalities in neonates infected in early pregnancy, while the mother remains asymptomatic. We describe a diagnostically challenging case of an immunosuppressed woman with scleroderma who developed deranged liver function tests attributed to intrahepatic cholestasis of pregnancy and haemolysis, elevated liver enzymes and low platelets syndrome but was ultimately found to have disseminated cytomegalovirus. Cytomegalovirus can present in a myriad of ways...
September 2016: Obstetric Medicine
Rima Fawaz, Ulrich Baumann, Udeme Ekong, Björn Fischler, Nedim Hadzic, Cara L Mack, Valérie A McLin, Jean P Molleston, Ezequiel Neimark, Vicky Lee Ng, Saul J Karpen
Cholestatic jaundice in infancy affects approximately 1 in every 2500 term infants and is infrequently recognized by primary providers in the setting of physiologic jaundice. Cholestatic jaundice is always pathologic and indicates hepatobiliary dysfunction. Early detection by the primary care physician and timely referrals to the pediatric gastroenterologist/hepatologist are important contributors to optimal treatment and prognosis. The most common causes of cholestatic jaundice in the first months of life are biliary atresia (BA, 25-40%) followed by an expanding list of monogenic disorders (25%), plus many unknown or multifactorial (e...
July 16, 2016: Journal of Pediatric Gastroenterology and Nutrition
A V Degtyareva, S V Mikhailova, E Y Zakharova, E L Tumanova, A A Puchkova
BACKGROUND: Niemann-Pick disease type C is a rare metabolic disease characterized by progressive neurological deterioration with childhood onset, and often results in premature mortality. Niemann-Pick disease type C has an extremely heterogeneous clinical presentation with a wide range of visceral and neurological signs and symptoms that are not specific to the disease, and which progress over varied periods of time. The incidence and epidemiology of Niemann-Pick disease type C in Russia have not been characterized...
2016: Journal of Medical Case Reports
Racha Khalaf, Claudia Phen, Sara Karjoo, Michael Wilsey
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...
March 2016: Pediatric Gastroenterology, Hepatology & Nutrition
Marie Nguyen, Avafia Dossa, Jessica Zagory, Jamie Golden, Anne Roberts, Xiaowei Fu, Kasper Wang, Christopher P Gayer
INTRODUCTION: Biliary atresia (BA) is a neonatal obstructive cholangiopathy requiring rapid intervention to prevent end-stage liver failure and death. Low bile acid levels in stool, detectable with high-performance liquid chromatography-mass spectroscopy, may reflect extrahepatic biliary obstruction in cholestasis. HYPOTHESIS: Stool bile acid content can differentiate BA from non-BA forms of cholestasis. METHODS: Stool samples from four healthy and nine cholestatic patients were collected following internal review board approval...
June 2016: Journal of Pediatric Surgery
Mohamed A El-Guindi, Mostafa M Sira, Mohsen H Hussein, Nermine A Ehsan, Nancy M Elsheikh
UNLABELLED:  Background. Diagnosis of progressive familial intrahepatic cholestasis (PFIC) is a challenging matter that involves the summation of clinical, laboratory, radiological, and liver histological parameters; in addition to specific investigations to exclude other causes of neonatal cholestasis. The aim of this study was to evaluate liver tissue immunohistochemistry of bile salt export pump (BSEP) and multidrug resistance 3 (MDR3) proteins in differentiating PFIC from other causes of neonatal cholestasis, particularly, when genotyping is unavailable...
March 2016: Annals of Hepatology
Jin-Peng He, Yun Hao, Xiao-Lin Wang, Xiao-Jin Yang, Jing-Fan Shao, Jie-Xiong Feng
BACKGROUND: This study was undertaken to retrospectively analyze the accuracy of different methods in differentiating biliary atresia from neonatal jaundice. METHODS: A search was made in MEDLINE, and the Web of Science for relevant original articles published in English; methodological quality of the included studies was also assessed. Two reviewers extracted data independently. Studies were pooled, summary receiver operating characteristics curve and diagnostic odds ratio (DOR) with corresponding confidence intervals were calculated...
February 2016: World Journal of Pediatrics: WJP
Gong Chen, Ping Xue, Shan Zheng, Lian Chen, Yangyang Ma
OBJECTIVE: The purpose of this study was to evaluate the diagnostic and prognostic value of a histological scoring system in biliary atresia (BA). METHODS: From June 2013 to July 2014, 86 wedge liver biopsy specimens were obtained from infants with neonatal cholestasis (58 patients with biliary atresia and 28 patients with non-obstructive cholestasis as control) in our center. A pathologist, single-blinded to the final diagnosis, made the histological diagnosis individually based on an 8-feature (liver fibrosis, portal ductal proliferation, bile plugs in portal ductules, cholestasis, hepatocellular changes inflammatory cells infiltration in portal region, extramedullary hematopoiesis, and ductal plate malformation), 21-point (0 to 21) scoring system...
December 2015: Journal of Pediatric Surgery
Kejun Zhou, Jun Wang, Guoxiang Xie, Ying Zhou, Weihui Yan, Weihua Pan, Yanran Che, Ting Zhang, Linda Wong, Sandi Kwee, Yongtao Xiao, Jie Wen, Wei Cai, Wei Jia
Biliary atresia (BA) is a severe chronic cholestasis disorder of infants that leads to death if not treated on time. Neonatal hepatitis syndrome (NHS) is another leading cause of neonatal cholestasis confounding the diagnosis of BA. Recent studies indicate that altered bile acid metabolism is closely associated with liver injury and cholestasis. In this study, we systematically measured the bile acid metabolome in plasma of BA, NHS, and healthy controls. Liver bile acids were also measured using biopsy samples from 48 BA and 16 NHS infants undergoing operative cholangiography as well as 5 normal adjacent nontumor liver tissues taken from hepatoblastoma patients as controls...
November 6, 2015: Journal of Proteome Research
Carlo Dani, Simone Pratesi, Francesco Raimondi, Costantino Romagnoli
Hyperbilirubinemia is a frequent condition affecting newborns during the first two weeks of life and when it lasts more than 14 days it is defined as prolonged jaundice. This condition requires differential diagnosis between the usually benign unconjugated hyperbilirubinemia and the pathological conjugated hyperbilirubinemia, that is mainly due to neonatal cholestasis. It is important that the diagnosis of neonatal cholestasis be well-timed to optimize its management, prevent worsening of the patient's outcome, and to avoid premature, painful, expensive, and useless tests...
2015: Italian Journal of Pediatrics
Ayano Inui, Takuji Hashimoto, Tsuyoshi Sogo, Haruki Komatsu, Takeyori Saheki, Tomoo Fujisawa
Citrin deficiency manifests as both neonatal intrahepatic cholestasis (NICCD) during early infancy and adult-onset type II citrullinemia during adulthood. Hepatic steatosis is most frequently observed in patients with citrin deficiency. Thus, non-alcoholic fatty liver disease that is unrelated to being overweight is considered one of the clinical features of citrin deficiency in children and adults. However, it remains unknown whether citrin deficiency is a cause of chronic hepatitis in the absence of fatty changes to the liver that occur during childhood...
April 2016: Hepatology Research: the Official Journal of the Japan Society of Hepatology
Mohamed Abdel-Salam El-Guindi, Hala Hany El-Said, Mohsen Hassan Hussein, Rana El-Sayed Nassar, Ahmad Mohamed Sira
AIM: Early diagnosis of biliary atresia (BA) is of utmost importance for good outcome; however, it is sometimes difficult due to the overlapping diagnostic test results with other causes of neonatal cholestasis. Moreover, many diagnostic tests are costly, invasive and not available in all centers, especially in developing countries. So, we aimed to investigate the diagnostic performance of urinary urobilinogen; an easy, cheap test that was not tested before in BA. METHODS: Seventy-five infants divided into three age- and sex-matched groups (BA, non-BA cholestasis and healthy control group) were recruited for the study...
February 2016: Hepatology Research: the Official Journal of the Japan Society of Hepatology
Thomas Götze, Holger Blessing, Christian Grillhösl, Patrick Gerner, André Hoerning
Cholestatic jaundice in early infancy is a complex diagnostic problem. Misdiagnosis of cholestasis as physiologic jaundice delays the identification of severe liver diseases. In the majority of infants, prolonged physiologic jaundice represent benign cases of breast milk jaundice, but few among them are masked and caused by neonatal cholestasis (NC) that requires a prompt diagnosis and treatment. Therefore, a prolonged neonatal jaundice, longer than 2 weeks after birth, must always be investigated because an early diagnosis is essential for appropriate management...
2015: Frontiers in Pediatrics
Rui Yang, Dongqiong Tan, Yu Wang, Jun Ye, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Huiwen Zhang
OBJECTIVE: To analyze the clinical characteristics of three Chinese cases of Niemann-Pick disease type C patients with neonatal cholestasis as initial presentation, and enhance awareness of Niemann-Pick disease type C among pediatricians. METHOD: Three sporadic cases with confirmed Niemann-Pick disease type C initially presented as neonatal cholestasis were retrospectively reviewed in this study. Their peripheral blood specimens were collected after obtaining informed consent...
January 2015: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Gulden Diniz, Hulya Tosun Yildirim, Sebnem Calkavur, Cigdem Ecevit, Ozgur Olukman, Ozlem Bekem Soylu, Safiye Aktas
BACKGROUND/AIMS: The basic problem in diagnosis of neonatal cholestasis (NC) is to differentiate biliary atresia (BA) from other non-obstructive disorders. Because if bile flow cannot be provided by surgery, BA leads to cirrhosis and death within the first year of life. The aim of the present study is to determine histopathological features that may help to differentiate BA from neonatal hepatitis (NH). MATERIAL AND METHODS: This retrospective study was carried out on 105 liver biopsy specimens of 74 infants with NC who were diagnosed between 2003 and 2012...
June 2015: Fetal and Pediatric Pathology
Ines Potočnjak, Goran Tešović, Andrea Tešija Kuna, Mario Stefanović, Orjena Zaja
Congenital Cytomegalovirus (CMV) infection and alpha 1-antitrypsin (A1AT) deficiency are separately well described entities, but their simultaneous occurrence can pose a special challenge to a clinician, especially dealing with optimal diagnostic as well as therapeutic approach. Congenital CMV infection is the most common vertically transmitted infection in developed countries. In 85-95% of newborns it runs asymptomatic, while in others it is presented with jaundice, petechias, hepatosplenomegaly and central nervous system damage...
2014: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
Steven Shinn-Forng Peng, Wen-Ming Hsu, Huey-Ling Chen, Yuan-Heng Mo
OBJECTIVES: Differential diagnosis between biliary atresia (BA) and total parenteral nutrition-associated cholestasis (TPN-AC) and early treatment for cholestatic infants are challenges for evaluating neonatal or infantile cholestasis. The aim of our retrospective study was to apply noninvasive indices of magnetic resonance images to differentiate BA from TPN-AC. METHODS: A total of 44 patients diagnosed as having BA (n = 30) or TPN-AC (n = 14) were included in the present retrospective study and underwent abdominal magnetic resonance imaging to evaluate the possibility of BA...
September 2014: Journal of Pediatric Gastroenterology and Nutrition
Jian-She Wang, Jing Zhao, Li-Ting Li
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive disorder that is caused by mutations in 2 interacting genes VPS33B and VIPAS39. Mutations in VPS33B gene account for most cases of ARC. As low or normal gamma-glutamyl transpeptidase (GGT) activity has been described in all patients with ARC syndrome identified so far, ARC syndrome is a possible diagnosis for low GGT cholestasis. Here we describe a Chinese patient with neonatal cholestasis and a high GGT level in three consecutive tests...
April 28, 2014: World Journal of Gastroenterology: WJG
Grzegorz T Gurda, Qingfeng Zhu, Haibo Bai, Duojia Pan, Kathleen B Schwarz, Robert A Anders
Although physiologic jaundice of neonates is common, persistent neonatal cholestasis is life-threatening and has multiple etiologies. Among these etiologies, biliary atresia (BA) requires rapid diagnosis and treatment. In diagnosing BA, the surgical pathologist must recognize subtle histologic changes, often with only a small core liver biopsy. To aid in the differential diagnosis of neonatal cholestasis, we investigated Yes-associated protein (YAP), a regulator of organ size and bile duct development. We examined whether a YAP immunostain can highlight emerging hepatobiliary epithelium in BA (n = 28) versus other causes of persistent cholestasis (non-BA; n = 15) and thus serve as a useful diagnostic marker in persistent neonatal jaundice...
May 2014: Human Pathology
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