From bruising a toe to diagnosing cystic fibrosis
Authors:
N. El-Lababidi 1; J. Bartošová 2; Š. Fingerhutová 1; P. Frühauf 1; J. Zeman 1
Authors‘ workplace:
Klinika dětského a dorostového lékařství 1. LF UK a VFN, Praha
přednosta prof. MUDr. J. Zeman, DrSc.
1; Pediatrická klinika 2. LF UK a FN Motol, Centrum cystické fibrózy, Praha
přednosta prof. MUDr. J. Lebl, CSc.
2
Published in:
Čes-slov Pediat 2016; 71 (5-6): 268-274.
Category:
Case Report
Overview
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.
Conclusion:
The boy’s tale documents the importance of anthropometric data follow up in paediatrics. Even though a neonatal screening program exists, cystic fibrosis remains a part of the differential diagnosis of a child with a hepatobiliary disease of unknown origin. Sweat test is a readily available, non-invasive and economically affordable method that helps in excluding or verifying this serious disease.
KEY WORDS:
cystic fibrosis, hepatomegaly, hepatobiliary illness, growth disorder
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2016 Issue 5-6
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