neonatal cholestasis syndrome

The bronze baby syndrome is an infrequent dyschromia resulting from phototherapy in newborn babies with neonatal jaundice. Even though the common phenotype has been described in patients with direct neonatal hyperbilirubinemia secondary to cholestasis, several cases of patients with indirect neonatal hyperbilirubinemia who have managed to reverse it have been reported, as well as patients with isolated hyperbilirubinemia.Currently, the physiopathology of this condition is still a subject of controversy and, therefore, there is a lack of clear conducts for its correct diagnosis and treatment...

INTRODUCTION: Protocols for investigating neonatal prolonged jaundice vary and the yield from screening has not been assessed. International guidelines recommend establishing cholestasis before proceeding to investigate the underlying pathology. However, in most hospitals administered by the Hospital Authority, full liver function is checked at the first neonatal jaundice clinic visit. To study the diagnostic yield of this approach, we carried out a retrospective study of all infants referred for prolonged jaundice...

OBJECTIVE: To clarify the clinical, pathologic, and genetic features of neonatal Dubin-Johnson syndrome. STUDY DESIGN: Ten patients with neonatal Dubin-Johnson syndrome were recruited from 6 pediatric centers in Japan between September 2013 and October 2016. Clinical and laboratory course, macroscopic and microscopic liver findings, and molecular genetic findings concerning ATP-binding cassette subfamily C member 2 (ABCC2) were retrospectively and prospectively examined...

Importance: Intrahepatic cholestasis of pregnancy (ICP) complicates approximately 0.2% to 2% of pregnancies and can lead to increased fetal risks in pregnancy. Objective: This review aims to increase the knowledge of women's health care providers regarding the diagnosis, management, and fetal risks associated with ICP. Results: The diagnosis of ICP is based on symptoms of pruritus that typically include the palms and soles, as well as elevated bile acid levels...

NISCH syndrome is a rare autosomal recessive disease. It is characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and neonatal sclerosing cholangitis. It is caused by mutations in the CLDN1 gene encoding the claudin-1 protein, which is located at tight junctions. Fifteen cases have been reported to date and three different mutations have been identified. We report on the case of a 2-year-old boy from a consanguineous Moroccan family, presenting with NISCH syndrome and carrying the so-called Moroccan homozygous mutation (c...

BACKGROUND/PURPOSE: The optimal time for delivery of neonates with a prenatal diagnosis of gastroschisis (GS) is controversial. We compared the outcomes for GS at three different gestational ages (GAs), 33-34 weeks, 35-36 weeks, and ≥ 37 weeks. METHODS: We analyze hospital discharge data of neonates with GS using the 2006, 2009 and 2012 Healthcare Cost and Utilization Project Kids' Inpatient Database (HCUPKIDS). Multivariable analysis was used to compare the association between GS outcomes and the three GAs...

PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling...

All diagnostic algorithms for Neonatal Cholestasis Syndrome (NCS) focus on differentiating numerous medical causes from Biliary Atresia (BA). No preoperative diagnostic algorithm has 100% diagnostic accuracy for BA and yet, timely diagnosis is crucial to optimize surgical outcome. Markers for high index of clinical suspicion for BA are: a "usually" well thriving infant with conjugated hyperbilirubinemia, raised gamma glutamyl transpeptidase, persistently "acholic" stools, firm hepatomegaly with dysmorphic, hypoplastic gall bladder...

INTRODUCTION: Hyperbilirubinemia may have deleterious effects on many organs, even after the neonatal age. Blood purification is effective in the treatment of hyperbilirubinemia. Recently some reports suggest the potential role of hemoadsorption columns in this setting. METHODS: We present the case of a 6-year-old child with severe hyperbilirubinemia due to congestive liver dysfunction, complicated by persistent inflammation, immunosuppression and catabolism syndrome (PICS)...

BACKGROUND AND STUDY AIMS: Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome (AGS) and Niemann Pick disease (NPD). We aimed to investigate the frequency of ocular manifestations in infants with cholestasis. PATIENTS AND METHODS: This cross-sectional study included cholestatic infants presenting to the Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision...

OBJECTIVE: To investigate the current status of research on infantile cholestatic liver disease in China and future research trends. METHODS: A co-word analysis was performed in October 2016. Document retrieval and screening were performed in the Chinese databases CNKI and Wanfang Data using "cholestasis" and "infant" as key words. Excel 2010 was used to establish a co-occurrence matrix of high-frequency key words, and Ucinet 6.0 and Netdraw were used to develop a visualized network of these high-frequency key words...

Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus.

BACKGROUND: Intestinal failure-associated liver disease (IFALD) remains a serious problem in the treatment of infants with nutritional problems and short bowel syndrome. METHODS: A review of the recent literature from 2010 to 2016, concentrating on articles related to the pathophysiology of IFALD and to outcomes of novel nutritional and pharmacological therapies for neonatal cholestasis in the post-surgical neonate. RESULTS: The pathophysiology of IFALD relates to an increase sensitivity of the neonatal liver to cholestasis in the non-fed state; prolonged cholestasis almost inevitably results in liver damage which will progress from fibrosis to cirrhosis...

Congenital intrahepatic portosystemic shunts are rare in children. Portosystemic venous malformations are characterized by extreme clinical variability. We report a full-term 33-day-old male infant presenting with neonatal jaundice. On physical examination, he had generalized icterus and the liver was palpable 3.5 cm below the right costal margin. He had no other symptoms. Laboratory tests showed AST 632 U/L, ALT 198 U/L, total bilirubin 12.1 mg/dL, conjugated bilirubin 10.2 mg/dL, alkaline phosphatase 753 U/L, GGT 47 U/L and glucose 67 U/L...

BACKGROUND: Neonatal cholestasis syndrome (NCS) is a major cause of morbidity and mortality in infants. The disorder has rarely been studied in centers from Central India. OBJECTIVES: To study the prevalence, clinical presentation and etiology of NCS at a tertiary referral center in Central India. MATERIALS AND METHODS: The study was carried out at a tertiary referral center in Central India. The study is a descriptive study. The records of all patients with suspected NCS treated in the Department of Pediatrics from 2007-2012 were analyzed...

BACKGROUND: Alagille syndrome is an autosomal dominant disorder characterized by neonatal cholestasis, characteristic facies, and cardiac abnormalities. Ocular abnormalities include posterior embryotoxon, mosaic pattern of iris stromal hypoplasia, microcornea, optic disc drusen, and pigmentary retinopathy. We present the second report of ocular pathology in two cases of Alagille syndrome. METHODS: Gross and histologic preparations of four eyes of two patients. RESULTS: Posterior embryotoxon is seen in both cases, with iris processes extending to the embryotoxon in case 1...

BACKGROUND: Intrahepatic cholestasis of pregnancy (ICP) is a specific pregnancy-related disorder without standard medical therapies. Ursodeoxycholic acid (UDCA) is the most used medicine, but the efficacy and safety of UDCA remain uncertain. Several meta-analyses had been made to assess the effects of UDCA in ICP. However, the samples were not large enough to convince obstetricians to use UDCA. We conducted a meta-analysis to evaluate the effects and safety of UDCA in patients with ICP, which included only randomized controlled trials (RCTs)...

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...

Aagenaes syndrome, also called lymphoedema cholestasis syndrome 1 (LSC1), is characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age and severe chronic lymphoedema, mainly affecting the lower extremities. The condition is autosomal recessively inherited, and the gene is located on chromosome 15q. The locus, LCS1, was mapped to a 6.6 cM region on chromosome 15. Angioid streaks are visible irregular crack-like dehiscences in bruch's membrane that are associated with atrophic degeneration of the overlying retinal pigment epithelium...

This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature...