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

Percorsi clinici

Un lattante che fa (molta) fatica a respirare

A newborn with (serious) breathing problems

Paola Assandro1, Giovanna Ferrara1, Anna Maria Bramino Chiapello2, Elisabetta Bignamini3

1Medico in formazione, IRCCS Materno-Infantile “Burlo Garofolo”, Trieste
2Pediatra ASL TO4, Torino
3Struttura Complessa di Pneumologia Pediatrica, ASO OIRM S. Anna, Torino

Giugno 2013 - pagg. 377 -384

Abstract
The correct diagnosis, the treatment, and the medical care of a newborn with hypotonia and respiratory distress are difficult because several diseases can have similar clinical presentations. The article describes a case of an eight-year-old child, affected by a very rare neuromuscular disease, who presented with respiratory distress and aspecific symptoms (weakness, delayed growth, hypoglycemia, etc.) from his first days of life. The reader is driven to the correct diagnosis by following a logical approach, in order to analyse many different clinical hypotheses for each main symptom. Finally, some considerations about the complexity but crucial importance of medical assistance for these children are reported.
Contenuto riservato

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

Non sei ancora registrato? Registrati

Bibliografia
1. Wessel MA, Cobb JC, Jackson EB, Harris GS, Detwiler AC. Paroxismal fussing in infancy, sometimes called colic. Pediatrics 1954; 14:421-35. 2. Società Italiana di Pediatria. Apparent Life- Threatening Events (ALTE) - Linea guida diagnostico- assistenziale. 65° Congresso Nazionale SIP, 2009. 3. Grohmann K, Varon R, Stolz P, et al. Mutations in the gene encoding immunoglobulin m-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 2001;29:75-7. 4. Maystadt I, Zarhrate M, Landrieu P, et al. Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. Hum Mutat 2004;23:525-6. 5. Grohmann K, Varon R, Stolz P, et al. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol 2003;54: 719-24. 6. Pitt M, Houlden H, Jacobs J, et al. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain 2003;126:2682-92. 7. Guenther UP, Varon R, Schlicke M, et al. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum Mutat 2007;28:808- 15. 8. Grohmann K, Wienker TF, Saar K, et al. Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21. Am J Hum Genet 1999;65:1459-62. 9. Rudnik-Schöneborn S, Stolz P, Varon R, et al. Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Neuropediatrics 2004;35:174-82. 10. Appleton RE, Hübner C, Grohmann K, et al. Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1). Dev Med Child Neurol 2004;46:576. 11. Giannini A, Pinto AM, Rossetti G, et al. Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. Intensive Care Med 2006;32:1851-5. 12. Guenther UP, Schuelke M, Bertini E, et al. Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1. Hum Genet 2004;115:319-26. 13. Joseph S, Robb SA, Mohammed S, et al. Interfamilial phenotypic heterogeneity in SMARD1. Neuromuscul Disord 2009;19:193-5. 14. AlSaman A, Tomoum H. Infantile spinal muscular atrophy with respiratory distress type 1: a case report. J Child Neurol 2010;25: 764-9. 15. Chalançon M, Debillon T, Dieterich K, Commare MC. A rare cause of respiratory failure in infants: Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1). Arch Pediatr 2012; 19:1082-5. 16. Kaindl AM, Guenther UP, Rudnik-Schöneborn S, et al. L’amyotrophie spinale distale de type 1 (DSMA1 ou SMARD1). Arch Pediatr 2008;15:1568-72. 17. Wong VC, Chung BH, Li S, Goh W, Lee SL. Mutation of gene in spinal muscular atrophy respiratory distress type I. Pediatr Neurol 2006;34:474-7. 18. Sangiuolo F, Filareto A, Giardina E, et al. Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy. Prenat Diagn 2004;24:833-44. 19. Eckart M, Guenther UP, Idkowiak J, et al. The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Pediatrics 2012;129:148-56. 20. Lemoine TJ, Swoboda KJ, Bratton SL, et al. Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival? Pediatr Crit Care Med 2012; 13:e161-5. 21. Cuisset JM, Estournet B. Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy. Rev Neurol (Paris) 2012;168:902-9. 22. D’Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis 2011;6:71. 23. Torres CP, Borsatto MC, de Queiroz AM, Lessa FC, Orsi IA. Cri du chat syndrome: a case report. Spec Care Dentist 2005;25:286-8.

Corrispondenza: paola.assandro@gmail.com