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

  • Pediatric Original
  • Published:
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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.

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Acknowledgements

The authors thank P. Sergi (Unit of Neurophysiopathology, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan), L. Morandi (Division of Neuromuscular Diseases, Istituto Nazionale Neurologico C. Besta, Milan), and G. Uziel (Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Milan) for their help in diagnosing the cases, and D. Ward for help with the English.

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Authors and Affiliations

  1. Pediatric Intensive Care Unit, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Via della Commenda 9, 20122, Milan, Italy

    Alberto Giannini, Giordano Rossetti & Edi Prandi

  2. Institute of Medical Genetics, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168, Rome, Italy

    Anna Maria Pinto, Danilo Tiziano & Christina Brahe

  3. Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Via Celoria 11, 20131, Milan, Italy

    Nardo Nardocci

Authors
  1. Alberto Giannini
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  2. Anna Maria Pinto
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  3. Giordano Rossetti
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  4. Edi Prandi
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  5. Danilo Tiziano
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  6. Christina Brahe
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  7. Nardo Nardocci
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Corresponding author

Correspondence to Alberto Giannini.

Additional information

This article is discussed in the editorial available at: http://dx.doi.org/10.1007/s00134-006-0347-7

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Giannini, A., Pinto, A.M., Rossetti, G. et al. Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. Intensive Care Med 32, 1851–1855 (2006). https://doi.org/10.1007/s00134-006-0346-8

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  • DOI: https://doi.org/10.1007/s00134-006-0346-8

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