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. 2022 Jun;25(2):395-398.
doi: 10.1007/s40477-021-00584-w. Epub 2021 Apr 13.

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

Beatrice Berti #  1 , Danilo Buonsenso #  2   3   4 , Cristina De Rose  5 , Gloria Ferrantini  1 , Roberto De Sanctis  1 , Nicola Forcina  1 , Eugenio Mercuri  1   6 , Marika Pane  1
Affiliations

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

Beatrice Berti et al. J Ultrasound. 2022 Jun.

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.

Keywords: Diaphragm; Diaphragm function; Diaphragm ultrasound; JUSD-D-21–00,057; Lung ultrasound; Neuromuscular disorders; Personalized medicine; Precision medicine; SMARD1; Spinal muscular atrophy; Ultrasound.

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Conflict of interest statement

Nothing to declare.

Figures

Fig. 1
Fig. 1
Chest X-ray and point-of-care ultrasound findings. X-ray shows right diaphragm dome eventration (black arrow) and suspected left pleural effusion (black arrow-head) (a). B-mode diaphragm ultrasound shows diaphragm thickening on inspiration (b) and expiration (c) is showed between the crosses. M-mode imaging from the right subcostal area shows the functioning diaphragm represented as an echogenic line (d). Inspiration is identified on the sonographic tracing as upward flexion; expiration is identified as downward flexion. Estimation of diaphragmatic excursion was conducted by measuring the vertical distance between the upper border of the liver at the end of expiration to the upper border of the liver at the end of inspiration. This vertical distance represents right diaphragmatic excursion (d, white crosses). Grayscale lung ultrasound examination shows, on the left basal field, a subpleural consolidation with static air broncograms and parallel to each other of an atelectasis nature (e, white circle). In the same area no pleural effusion was detected
See this image and copyright information in PMC

References

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    1. Buonsenso D, Berti B, Palermo C, et al (2020) Ultrasound assessment of diaphragmatic function in type spinal muscular atrophy. PediatrPulmonol 55(7):1781-1788 - PubMed

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