Alagille Syndrome in a 6-month-old Girl

Alagille syndrome is a multisystem disease with an autosomal dominant genetic etiology. The prevalence of Alagille syndrome is approximately 1 in 70.000 live births. Genetic testing has been a confirmation for diagnosis in former year; however, it is difficult to apply in clinical setting. We report Alagille syndrome based on liver biopsy approach to guide more clinical relevance. The objective of the case report was to describe the clinical manifestations and investigate Alagille syndrome. A 6-month-old girl was admitted with a chief complaint of worsening jaundice and acholic feces, which was started at the age 2 months. Physical examination showed jaundice, dysmorphic face (a broad forehead, prominent ears, depressed nasal bridge with a bulbous tip nose, a triangular face with a pointed chin, and a deep-set palpebral fissure with hypertelorism), and hepatomegaly. An increased in direct bilirubin levels,18-fold from upper limit, and GGT, 47-fold from upper limit, was recorded. Thoracolumbar X-ray showed “butterfly vertebrae” and cholangiography showed multiple liver cysts, leading to Alagille syndrome diagnosis. Liver biopsy showed a prominent ductular reaction, focal giant hepatocytes, cholestasis, and mixed inflammatory cell infiltrate in the portal, periportal, and subcapsular areas. The patient was scheduled for a liver transplantation at a national referral hospital but passed away during the preparation. We reported a case of Alagille syndrome with clinical and liver biopsy confirmation. The patient deceased during liver transplantation preparation.

• Publication year

  2025

• Venue

  Academic and Clinical Pediatrics

• Publication date

  2025-01-01

• Fields of study

  Not labeled

• Identifiers
  DOI 10.4103/acped.acped_23_24
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• From Hepatocyte to Cholangiocyte: The Remarkable Potential of Transdifferentiation to Treat Cholestatic Diseases

  2019cited by this paper
• Surgical management of children and adolescents with upfront completely resected hepatocellular carcinoma

  2018cited by this paper
• Gallengangatresie und angeborene Cholestasesyndrome

  2018cited by this paper
• Alagille Syndrome.

  2018cited by this paper
• Cholangiopathies – Towards a molecular understanding

  2018cited by this paper
• Outcomes of Alagille syndrome following the Kasai operation: a systematic review and meta-analysis

  2018cited by this paper
• Alagille syndrome: pathogenesis, diagnosis and management

  2011cited by this paper
• Clinical and pathological characteristics of Alagille syndrome in Chinese children

  2008cited by this paper
• Liver Disease in Children: Alagille Syndrome

  2007cited by this paper
• Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

  1999cited by this paper
• Variable morbidity in alagille syndrome: a review of 43 cases.

  1999cited by this paper
• Arteriohepatic dysplasia and cardiovascular malformations.

  1994cited by this paper
• Alagille syndrome : a case report

  1990cited by this paper
• Familial Intrahepatic Cholestasis: An Update

  1979cited by this paper
• Studies of the aetiology of neonatal hepatitis and biliary atresia.

  1977cited by this paper

• No citing papers are available for this paper.