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Point-of-care lung and diaphragm ultrasound in a patient with spinal muscular atrophy with respiratory distress type 1

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Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1, OMIM #604,320), is a rare autosomal recessive disease resulting from degeneration of motor neurons in the anterior horns, which leads irreversible diaphragmatic palsy and progressive distal symmetrical muscular weakness. Respiratory distress is the main symptom and is severe, rapidly progressive, and frequently requiring invasive ventilation. Despite diaphragm being one of the target organ of the disease, no specific study has been done using ultrasound.We report diaphragm and lung ultrasound findings of a 13-month-old girl affected by SMARD1 (homozygosis c.1540G > A mutation in IGHMPB2 gene) with respiratory failure requiring permanent mechanical ventilation since birth and we discuss the role of diaphragmatic and lung ultrasound in this category of patients and its clinical implications.

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Funding

Nothing to declare.

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Author notes

  1. Beatrice Berti and Danilo Buonsenso are first authors.

Authors and Affiliations

  1. Paediatric Neurology Unit and Centro Clinico Nemo, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy

    Beatrice Berti, Gloria Ferrantini, Roberto De Sanctis, Nicola Forcina, Eugenio Mercuri & Marika Pane

  2. Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, 00168, Roma, Italy

    Danilo Buonsenso & Cristina De Rose

  3. Dipartimento di Scienze Biotecnologiche di Base, Cliniche Intensivologiche e Perioperatorie, Università Cattolica del Sacro Cuore, Rome, Italy

    Danilo Buonsenso

  4. Center for Global Health Research and Studies, Università Cattolica del Sacro Cuore, Roma, Italia

    Danilo Buonsenso

  5. Università Cattolica del Sacro Cuore, Roma, Italy

    Eugenio Mercuri

Authors
  1. Beatrice Berti
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  2. Danilo Buonsenso
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  3. Cristina De Rose
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  4. Gloria Ferrantini
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  5. Roberto De Sanctis
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  6. Nicola Forcina
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  7. Eugenio Mercuri
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  8. Marika Pane
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Corresponding author

Correspondence to Danilo Buonsenso.

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Ethical statement

The study was approved by the Institutional Review Board and Ethic Committee (prot.36173/19 ID2729).

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Written informed consent was obtained from a parent or guardian before data collection.

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Berti, B., Buonsenso, D., De Rose, C. et al. Point-of-care lung and diaphragm ultrasound in a patient with spinal muscular atrophy with respiratory distress type 1. J Ultrasound 25, 395–398 (2022). https://doi.org/10.1007/s40477-021-00584-w

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  • DOI: https://doi.org/10.1007/s40477-021-00584-w

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