Article Text

Download PDFPDF
P61 Cholestasis and growth failure: indicators of a complex syndrome
  1. Nardella G,
  2. Lanzano A,
  3. Verrotti di Pianella V,
  4. Calabrese C,
  5. Sacco E,
  6. Rascio N,
  7. Nardella D,
  8. Longo A,
  9. Pettoello-Mantovani M
  1. Department of Paediatrics, Hospital-University OORR, Foggia, Italy


A.L., chronological age: 6.5 years old (bone age: 3.5 years old). Dysmorphic facies with hypertelorism, saddle nose, broad forehead, pointed chin. Only child, born at 41 weeks of regular pregnancy, eutocic delivery, small for gestational age (weight: 2030 g), left preauricolar appendage. At birth: direct hyperbilirubinemia, elevated serum GGT, pulmonary artery branches stenosis. Falling rate of bilirubin until normalisation after 6 months, with lab evidence of cholestasis (elevated serum GGT, bile acids and cholesterol) and hypertransaminasemia. At 4 years and 2 months old, because of a growth failure (weight and height are less than the 3rd percentile, bone age of 2 years and 9 months, non-responder to arginine-clonidine provocative test, normal female karyotype), undergo hormonal therapy for 12 months, with a catch-up growth. Clinical examination: spleen palpable 2 cm below the costal margin, mesocardiac 1/6 systolic murmur. Hypertransaminasemia (AST 100 U/L, ALT 125 U/L), lab evidence of cholestasis (serum GGT 261 U/L, cholesterol 227 mg/dl and bile acids 24.8 µmol/l), mild conjugated hyperbilirubinemia (0.45 mg/dl), elevated serum alkaline phosphatase (900 U/L) and alpha-amylase (131 U/L). Abdominal US: dilated intrahepatic bile ducts under Glisson’s capsule. Distended gallbladder. Splenomegaly (11 cm interpolar diameter). Cardiac US: patent arterial duct. Ophthalmological examination: incomplete posterior embryotoxon. Fundus oculi examination: persistent myelination, excavation of the optic disk. No vertebral anomalies. Possible diagnosis: Alagille Syndrome, confirmed by genetic testing and liver biopsy (cholestasis and paucity of the interlobular biliary ducts). The estimated incidence of Alagille syndrome is 1 in 70 000 newborns per year. A diagnosis of Alagille Syndrome may be suspected when 3 of 5 major clinical signs are present (distinctive facial features, intrahepatic cholestasis, pulmonary artery branches stenosis, posterior embryotoxon, butterfly shaped vertebrae or hemivertebra). Treatment is non-specific and includes carbohydrates, medium-chain triglycerides and vitamin supplementation. The disease usually stabilises between ages 4 and 10 years. Liver transplantation may be necessary for patients with refractory disease.

  • Alagille Syndrome
  • Cholestasis
  • Hypertransaminasemia

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.