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Cinque casi, un unico messaggio: quando il neuroblastoma si presenta in modo atipico
Five cases, a single message: when neuroblastoma presents atypically
Carlotta Grassi
Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica, Salute Materno-Infantile (DINOGMI), Università di Genova
Luglio 2026 | DOI: 10.53126/MEBXXIXSU192
Abstract
Neuroblastoma is the most common extracranial solid tumour in children, yet its diagnosis is frequently delayed due to a highly heterogeneous clinical presentation at onset. While over 50% of cases originate in the adrenal medulla causing abdominal masses, the remaining half presents with atypical or extra-abdominal signs. The paper describes the unusual onset of five cases evaluated over the last two years: a 5-month-old infant with motor deficit and loss of head and trunk control; a 1-year-old boy with fever and limping; a 4-month-old infant with worsening respiratory distress; a 1-year-old boy with periocular swelling and hematoma; and a 2-year-old girl with persistent diarrhoea. By discussing these atypical presentations, the paper aims to highlight clinical scenarios where neuroblastoma should be considered in the differential diagnosis. Early recognition and prompt treatment remain crucial prognostic factors to reduce diagnostic delay and improve patient outcomes.
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