Ottobre 2026 - Volume XLV - numero 8
Casi indimenticabili
1,2Centro Fondazione Mariani per il Bambino Fragile,
SC di Pediatria, Ospedale Sant’Anna, Como
2Università degli Studi dell’Insubria, Varese
3UOC di Pediatria, Ospedale “Filippo del Ponte”, Varese
Key words: Osteoporosis, Genetics (PLS3), Bisphosphonates
The report describes the case of a 15-year-old boy with severe bone fractures since early childhood. His genetic analysis revealed a novel mutation in the PLS3 gene (X-linked), inherited from his mother and shared with his grandfather who suffers from early-onset osteoporosis. The molecular diagnosis enabled targeted treatment with bisphosphonates, resulting in a marked clinical improvement.
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Casi indimenticabili
UOC di Pediatria, Azienda Sanitaria Locale di Pescara
Key words: Acute necrotising encephalopathy, Influenza B, RANBP2 mutation, Cytokine storm
The paper describes the case of a 16-year-old girl with influenza B who progressively developed confusion and behavioural changes during observation. Prompt clinical suspicion led to the diagnosis of acute necrotising encephalopathy (ANE1), a rare condition linked to a RANBP2 genetic mutation. This variant triggers a life-threatening cytokine storm following common viral infections. The case highlights the importance of listening to parental concerns and recognising genetic susceptibility in atypical neurological presentations.
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