Jaundice is a key manifestation of hepatobiliary disease in all age groups. Jaundice is a common finding in the first 2 weeks after birth, occurring in 2.4% to 15% of newborns. The neonatal liver is at increased susceptibility to cholestasis, with an incidence ranging from 1 in 2,500 to 1 in 5,000 live births. Etiologies vary, but the most common is biliary atresia. In 2004, the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition published guidelines for the evaluation of cholestasis that clearly stated any infant with jaundice persisting beyond age 2 weeks (3 weeks in breast-fed infants with an otherwise normal history and physical examination) should be evaluated with a fractionated serum bilirubin level. Prompt evaluation, diagnosis, and intervention are vital to optimize timely intervention and improve clinical outcomes. This article discusses the etiology, diagnosis and evaluation of cholestatis in infants. [Pediatr Ann. 2016;45(12):e414-e419.].
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http://dx.doi.org/10.3928/19382359-20161118-01 | DOI Listing |
Cureus
December 2024
Internal Medicine, Nishtar Medical University, Multan, PAK.
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare genetic disorder characterized by severe intrahepatic cholestasis, which often manifests in infancy with progressive liver dysfunction. We present the case of a 3-month-old infant with a one-month history of jaundice, vomiting, and bloody stools, presenting a unique set of diagnostic challenges. Initial clinical and laboratory findings indicated significant liver dysfunction, prompting further imaging and genetic analysis.
View Article and Find Full Text PDFJPGN Rep
November 2024
The Department of Pediatrics III, Unit of Gastroenterology and Hepatology Pediatric, Abderrahim Harrouchi Children Hospital Ibn Rochd University Hospital Casablanca Morocco.
A recent nonsyndromic phenotype, newly linked to mutations in the ZFYVE19 gene, is characterized by the appearance of cholestasis accompanied by an increase in serum gamma-glutamyltranspeptidase (GGT) from infancy or early childhood. Affected individuals generally present with hepatosplenomegaly and may develop portal hypertension. The disease is thought to be the result of cholangiocyte-specific ciliary dysfunction, indicating a ciliopathy that appears to be limited to the liver.
View Article and Find Full Text PDFClin Exp Pediatr
November 2024
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Background: Citrin deficiency is a rare metabolic disorder prevalent in East and Southeast Asia that affects liver or neurological function throughout various life stages. While early diagnosis and dietary management can improve prognosis for infant onset disease, data on long-term neurocognitive outcomes is scarce.
Purpose: This study aimed to clarify whether transient metabolic disturbances during early childhood have a lasting effect on the neurocognitive function of individuals with citrin deficiency.
Radiol Case Rep
January 2025
Department of Radiology, Faculty of Medicine Padjadjaran University, Dr. Hasan Sadikin Hospital Bandung, West Java, Indonesia.
A choledochal cyst (CC) or biliary cyst is a congenital or acquired anomaly affecting the biliary tree. It involves the dilation of the biliary tree that could affect the extrahepatic and/or the intrahepatic segments. A choledochal cyst (CC) has traditionally been considered as a cystic dilation of the extrahepatic bile duct.
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