Aprile 2026 - Volume XLV - numero 4
Casi indimenticabili
Epatologia e Clinica dei Trapianti IRCCS Ospedale Pediatrico “Bambino Gesù”, Roma
Key words: Steatosis, Hereditary Fructose Intolerance, Hyperkalemia, Protective aversion
A 10-month-old girl presents with isolated fatty liver and normal lab tests. Suspicion of Hereditary Fructose Intolerance (HFI) arose from her refusal of fruit and her father’s nausea after eating sweets. Genetic testing confirmed the diagnosis for both: the infant remained asymptomatic thanks to her natural ‘protective aversion’ to sugars.
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Casi indimenticabili
1Pediatra di famiglia, Portogruaro (Venezia)
2Dermatologo pediatra, Mestre
Key words: Phimosis, Dysuria, Whitening of the prepuce, Cicatricial atrophy
A 9-year-old boy presents with phimosis associated with dysuria (difficulty urinating) and a characteristic whitening of the prepuce (ivory-white ring). Clinical examination led to the suspicion, later confirmed, of Lichen Sclerosus (LS), an autoimmune condition that causes cicatricial atrophy and urinary obstruction.
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