Novembre 2025 - Volume XLIV - numero 9
Casi indimenticabili
1UOC di Pediatria e Neonatologia, Servizio di Gastroenterologia Pediatrica, 2Servizio di Farmacia Ospedaliera, Ospedale di Ravenna, AUSL della Romagna
3Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna
Key words: Hepatitis C, Sofosbuvir/velpatasvir, Direct-Acting Antiviral drug (DAA)
Two brothers, aged 9 and 13, born to a mother with hepatitis C (genotype 1b), tested positive for HCV. Both were asymptomatic and in good general condition, only the older brother showed mildly elevated transaminases. HCV-RNA levels were high in both. They were treated with sofosbuvir/velpatasvir (DAA) for 12 weeks and after just one month they achieved complete HCV-RNA negativisation, confirmed at 12 and 24 weeks, indicating definitive virological cure.
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Endocrinologia, Diabetologia e altre malattie del metabolismo IRCCS Materno Infantile “Burlo Garofolo”, Trieste
Key words: Short stature, Mutation in the IHH gene, Hormone therapy
A child with slow growth and normal hormonal tests shows distinctive physical features. Clinical exome sequencing reveals a mutation in the IHH gene, inherited from the father, who had initially been overlooked. The child responds very well to growth hormone therapy.
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Casi indimenticabili
1Scuola di Specializzazione in Pediatria, Università di Palermo
2UOC di Pediatria Generale, 3UOC di Radiodiagnostica, Ospedale dei Bambini “G. Di Cristina”, ARNAS Civico “Di Cristina Benfratelli”, Palermo
4Dipartimento PROMISE “G. D’Alessandro”, Università di Palermo
Key words: Vitamin C deficiency, Scurvy, Gingival bleeding
A 19-month-old boy arrived at the emergency room with inconsolable crying and refusal to walk. MRI revealed bone changes consistent with vitamin C deficiency (scurvy). His history showed a diet almost exclusively based on milk and gingival bleeding. After supplementation with vitamin C and iron and the introduction of a balanced diet, the child improved rapidly, regained the ability to walk, and normalised his blood values.
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