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SIGENP - Società Italiana di Gastroenterologia Epatologia e Nutrizione Pediatrica

Una diagnosi difficile: quando il quadro clinico può essere ingannevole.

Clinical quiz

A puzzeling diagnosis: when clinical signs may deceive.

Luca Della Volpe1, Tommaso Alterio2, Antonella Mosca2, Giuseppe Maggiore2

1Unit of Hepatology and Gastroenterology, Sapienza University of Rome, Department of Pediatrics, Rome, Italy 2Hepatology Gastroenterology, Nutrition and Liver Transplant Unit, Bambino Gesù Children’s Hospital-IRCCS, Rome, Italy

associated with itching, fatigue and dark urine. Physical examination revealed bilateral pretibial edema with hyperkeratotic skin, scleral jaundice, bilateral laterocervical and inguinal micropolydenopathy, liver and spleen enlargement. Blood chemistry showed very mild elevation of aminotransferases activity (AST 97 U / L, ALT 48 U/L) and gammaglutamyl transferase activity elevation (GGT 266 U/L). Bilirubin was slightly increased (Total bilirubin 1.67 mg / dl,direct 0.92 mg / dl), hypoalbuminemia (2.5 g/dl), coagulopathy (INR 1.92, aPTT 46.3 sec, fibrinogen 171 mg/dl, ATIII 27%) snd hypergammaglobulinemia (IgG 2.07 g /l) were recorded. A marked eosinophilia (2260/ mm) was also present. Ultrasound of the abdomen revealed an enlarged liver and spleen with hyperechogenicity of the parenchyma and multiple nonspecific lymph nodes in the hepatic hilum and in mesenterium. This case is an example of how clinical signs may not comply with the diagnosis.

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