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01-11-2006 | Pediatric Original

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1

Authors: Alberto Giannini, Anna Maria Pinto, Giordano Rossetti, Edi Prandi, Danilo Tiziano, Christina Brahe, Nardo Nardocci

Published in: Intensive Care Medicine | Issue 11/2006

Abstract

Background

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn α-motoneurons and manifesting in the first 6 months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness (distal lower limbs mainly involved), muscle atrophy, and peripheral sensory neuropathy.

Setting

Pediatric intensive care unit of tertiary care hospital.

Patients

We present two new cases of SMARD1 and report two new mutations in the gene IGHMBP2 which encodes immunoglobulin μ-binding protein 2 on chromosome 11q13.

Conclusions

SMARD1 is a poor-prognosis disease that should be considered when acute respiratory insufficiency, of suspected neuromuscular or unclear cause, develops during the first 6 months of life. Diaphragmatic paralysis, manifesting as dyspnea and paradoxical respiration, is the most prominent presenting sign and diaphragmatic motility should be investigated early by fluoroscopy or ultrasound. Electromyography and nerve conduction studies revealing peripheral motor and sensory neuropathy then suggest the diagnosis which should be confirmed by genetic analysis.

Birnkrant DJ (2002) The assessment and management of the respiratory complications of pediatric neuromuscular diseases. Clin Pediatr (Phila) 41:301–308CrossRef

Iannaccone ST, Smith SA, Simard LR (2004) Spinal muscular atrophy. Curr Neurol Neurosci Rep 4:74–80PubMed

Aicardi J (1998) Diseases of the nervous system in childhood, 2nd edn. Mac Keith, Cambridge

Fenichel GM (1997) Clinical pediatric neurology. A signs and symptoms approach, 3th edn. Saunders, Philadelphia

Mellins RB, Hays AP, Gold AP, Berdon WE, Bowdler JD (1974) Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics 53:33–40PubMed

Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schoneborn S, Zerres K, Hubner C (2001) Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 29:75–77PubMedCrossRef

Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmuller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloglu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schoneborn S, Hubner C (2003) Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol 54:719–724PubMedCrossRef

Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R (2003) Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain 126:2682–2692PubMedCrossRef

Viollet L. Zarhate P, Burlet P, Lefebvre S, Munnich A (2002) Novel IGHMPB2 mutations in spinal muscular atrophy with respiratory distress (SMARD1). Am J Hum Genet 71 [Suppl]286

10.

Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L (2004) Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. Hum Mutat 23:525–526PubMedCrossRef

11.

Tachi N, Kikuchi S, Kozuka N, Nogami A (2005) A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1. Pediatr Neurol 32:288–390PubMedCrossRef

12.

Behrman RE, Kliegman RM, Jenson HB (2004) Nelson textbook of pediatrics, 17th edn. Saunders, Philadelphia

13.

Rudnik-Schoneborn S, Forkert R, Hahnen E, Wirth B, Zerres K (1996) Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics 27:8–15PubMed

14.

Flageole H (2003) Central hypoventilation and diaphragmatic eventration: diagnosis and management. Semin Pediatr Surg 12:38–45PubMedCrossRef

15.

Lloyd T, Tang YM, Benson MD, King S (2005) Diaphragmatic paralysis: the use of M mode ultrasound for diagnosis in adults. Spinal Cord Dec (epub ahead of print 6 December 2005)

16.

Epelman M, Navarro OM, Daneman A, Miller SF (2005) M-mode sonography of diaphragmatic motion: description of technique and experience in 278 pediatric patients. Pediatr Radiol 35:661–667PubMedCrossRef

17.

American Thoracic Society/European Respiratory Society (2002) ATS/ERS Statement on respiratory muscle testing. Am J Respir Crit Care Med 166:518–624CrossRef

18.

Rafferty GF, Greenough A, Dimitriou G, Kavadia V, Laubscher B, Polkey MI, Harris ML, Moxham J (2000) Assessment of neonatal diaphragm function using magnetic stimulation of the phrenic nerves. Am J Respir Crit Care Med 162:2337–4230PubMed

19.

Davis J, Goldman M, Loh L, Casson M (1976) Diaphragm function and alveolar hypoventilation. Q J Med 45:87–100PubMed

20.

Fromageot C, Lofaso F, Annane D, Falaize L, Lejaille M, Clair B, Gajdos P, Raphael JC (2001) Supine fall in lung volumes in the assessment of diaphragmatic weakness in neuromuscular disorders. Arch Phys Med Rehabil 82:123–128PubMedCrossRef

21.

Kumar N, Folger WN, Bolton CF (2004) Dyspnea as the predominant manifestation of bilateral phrenic neuropathy. Mayo Clin Proc 79:1563–1565PubMedCrossRef

22.

Hardart MK, Burns JP, Truog RD (2002) Respiratory support in spinal muscular atrophy type I: a survey of physician practices and attitudes. Pediatrics 110:e24PubMedCrossRef

23.

Rudnik-Schoneborn S, Stolz P, Varon R, Grohmann K, Schachtele M, Ketelsen UP, Stavrou D, Kurz H, Hubner C, Zerres K (2004) Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Neuropediatrics 35:174–182PubMedCrossRef

24.

Diers A, Kaczinski M, Grohmann K, Hubner C, Stoltenburg-Didinger G (2005) The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1). Acta Neuropathol (Berl) 110:289–297CrossRef

25.

Prasad AN, Prasad C (2003) The floppy infant: contribution of genetic and metabolic disorders. Brain Dev 25:457–476PubMedCrossRef

26.

Johnston HM (2003) The floppy weak infant revisited. Brain Dev 25:155–158PubMedCrossRef

27.

Paro-Panjan D, Neubauer D (2004) Congenital hypotonia: is there an algorithm? J Child Neurol 19:439–442PubMed

28.

Tiryaki T, Livanelioglu Z, Atayurt H (2006) Eventration of the diaphragm. Asian J Surg 29:8–10PubMedCrossRef

29.

Joho-Arreola AL, Bauersfeld U, Stauffer UG, Baenziger O, Bernet V (2005) Incidence and treatment of diaphragmatic paralysis after cardiac surgery in children. Eur J Cardiothorac Surg 27:53–57PubMedCrossRef

30.

Deslauriers J (1998) Eventration of the diaphragm. Chest Surg Clin N Am 8:315–330PubMed

31.

Sangiuolo F, Filareto A, Giardina E, Nardone AM, Pilu G, Pietropolli A, Bertini E, Novelli G (2004) Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy. Prenat Diagn 24:839–841PubMedCrossRef

32.

Simonds AK (2005) Ethical aspects of home long term ventilation in children with neuromuscular disease. Paediatr Respir Rev 6:209–214PubMedCrossRef

33.

Appleton RE, Hubner C, Grohmann K, Varon R (2004) Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1). Dev Med Child Neurol 46:576PubMedCrossRef

34.

Hardart MK, Truog RD (2003) Spinal muscular atrophy-type I. Arch Dis Child 88:848–850PubMedCrossRef

Title: Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1
Authors: Alberto Giannini
Anna Maria Pinto
Giordano Rossetti
Edi Prandi
Danilo Tiziano
Christina Brahe
Nardo Nardocci
Publication date: 01-11-2006
Publisher: Springer-Verlag
Published in: Intensive Care Medicine / Issue 11/2006
Print ISSN: 0342-4642
Electronic ISSN: 1432-1238
DOI: https://doi.org/10.1007/s00134-006-0346-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1

Abstract

Background

Setting

Patients

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Setting

Patients

Conclusions

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