Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
Login Abbonamenti Pubblicazioni Carrello Registrazione Perché registrarsi? Contatti

Com'è andata a finire

Un Duchenne che non convince

An unconvincing Duchenne diagnosis

Federica Corona1, Rosaura Conti1, Massimo Maschio2, Daniela Chicco2, Egidio Barbi1,2

1Università di Trieste
2IRCCS Materno-Infantile “Burlo Garofolo”, Trieste

Gennaio 2022 - pagg. 51 -53 | DOI: 10.53126/MEB41051

Abstract
The paper reports the case of a 20-year-old boy suffering from Duchenne muscular dystrophy. During his usual pneumology check-up he reported that he had cough with blood traces (not responsive to antibiotic therapy), palpitations, oppressive and retrosternal pain. Therefore, a chest X-ray was performed. Different diagnostic hypotheses and treatment options are discussed.
Riassunto
L'articolo riporta il caso di un ragazzo di 20 anni affetto da distrofia muscolare di Duchenne. Durante il consueto controllo pneumologico rifersce di avere tosse con tracce di sangue (non rispondente alla terapia antibiotica), palpitazioni, dolore opprimente e retrosternale, pertanto è stata eseguita una radiografia del torace. Vengono discusse diverse ipotesi diagnostiche e opzioni di trattamento.
Contenuto riservato

Per leggere l'articolo completo è necessario effettuare il login.

Non sei ancora registrato? Registrati

Bibliografia
1. Shih JA, Folch A, Wong BL. Duchenne muscular dystrophy: the heart of the matter. Curr Heart Fail Rep 2020;17(3):57-66. doi: 10.1007/s11897-020-00456-0. 2. Birnkrant DJ, Bushby K, Bann CM, et al.; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol 2018;17(4):347-61. doi: 10.1016/S1474-4422(18)30025-5. 3. Spurney CF, Ascheim D, Charnas L, et al. Current state of cardiac troponin testing in Duchenne muscular dystrophy cardiomyopathy: review and recommendations from the Parent Project Muscular Dystrophy expert panel. Open Heart 2021;8(1):e001592. doi: 10.1136/openhrt-2021-001592. 4. Viollet L, Gailey S, Thornton DJ, et al. Utility of cystatin C to monitor renal function in Duchenne muscular dystrophy. Muscle Nerve 2009;40(3):438-42. doi: 10.1002/mus. 21420. 5. Zappitelli M, Parvex P, Joseph L, et al. Derivation and validation of cystatin C-based prediction equations for GFR in children. Am J Kidney Dis. 2006 Aug;48(2):221-30. doi: 10.1053/j.ajkd.2006.04.085. 6. Feingold B, Mahle WT, Auerbach S, et al; American Heart Association Pediatric Heart Failure Committee of the Council on Cardiovascular Disease in the Young; Council on Clinical Cardiology; Council on Cardiovascular Radiology and Intervention; Council on Functional Genomics and Translational Biology; and Stroke Council. management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association. Circulation 2017;136(13):e200-e231. doi: 10. 1161/CIR.0000000000000526. 7. D’Amario D, Amodeo A, Adorisio R, et al. A current approach to heart failure in Duchenne muscular dystrophy. Heart 2017;103 (22):1770-9. doi: 10.1136/heartjnl-2017-311269. 8. Drachman DB, Toyka KV, Myer E. Prednisone in Duchenne muscular dystrophy. Lancet 1974;2(7894):1409-12. doi: 10.1016/ s0140-6736(74)90071-3. 9. Bruno I. Distrofia muscolare di Duchenne: si può fare di più. Medico e Bambino 2010; 29(10):663-4. 10. Gloss D, Moxley RT 3rd, Ashwal S, Oskoui M. Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology 2016; 86(5):465-72. doi: 10.1212/WNL. 0000000000002337. 11. Bushby K, Finkel R, Birnkrant DJ, et al.; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010;9(1):77-93. doi: 10.1016/S1474-4422(09)70271-6.

Corrispondenza: egidio.barbi@burlo.trieste.it