Abstract
A 12 year old boy underwent a surgical examination for a minor toe injury. During the examination, hepatomegaly with clubbing of the fingers and subicterus of the sclerae were noticed.
His height dropped from the 40th to the 5th percentile over the last 5 years. Detailed history uncovered chronic diarrhoea following an EBV infection.
Conjugated hyperbilirubinemia with a mild elevation of transaminases and GMT were found. Further examinations excluded a possible infectious or autoimmune origin.
Abdominal sonography showed marked hepatomegaly with a non-homogenous hyperechogenicity, periportal fibrosis and commencing cirrhotic changes. Splenomegaly was also present.
MRCP verified diffuse liver cirrhotic changes with narrowing of both the intra- and extrahepatic bile ducts leading to the suspicion of PSC. This was further supported by faecal calprotectin elevation.
Chloride sweat test was positive and a diagnosis of cystic fibrosis was verified on a molecular basis (homozygous mutation F508 del of the CFTR gene). Lungs HRCT revealed interstitial subpleural changes and a chronic atelectasis in the lingula region.
Airways inflammatory changes and stenosis of the bronchus in the lingula branching point were seen during bronchoscopy. Oesophageal varices and portal hypertension gastropathy were present during gastroscopy.
Colonoscopy revealed haemorrhoids. Glucose intolerance was confirmed.
The boy is followed up at the Cystic Fibrosis Centre of Motol University Hospital and is currently faring well.