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Introduction. Bilateral paralysis of the diaphragm may be an idiopathic clinical condition or associated with several diseases such as trauma, surgery, viral infections, neurologic disorders. The diaphragm is the main respiratory muscle. It is a cupoliform muscle-tendon structure, innervated bilaterally by phrenic nerve, which originates from C3-C5 nerve roots. Diaphragmatic paralysis is a clinical disorder that generates hypoventilation and basal pulmonary atelectasis, predisposing to hypercapnic respiratory failure. The clinic manifestations mimic cardio-respiratory pathologies, therefore often misdiagnosticated. Case presentation. A 55-year-old man with a previous C6-7 traumatic fracture, referred multiple accesses to the emergency room for acute nocturnal dyspnoea, treated with antibiotic therapy, diuretic therapy and long-term oxygen therapy, without beneficial effects. He referred to our pulmonary clinic for evaluation of persistent and worsening orthopnoea due to unknown cause for about 2 years. Clinical examination, respiratory functional tests and diaphragm ultrasound revealed a strong suspicion of diaphragmatic deficit, confirmed by electromyography. Conclusions. The patient accesses to the emergency room numerous times and the clinical frame have been always oriented towards a cardio-respiratory origin. From the onset of the symptom to the respiratory evaluation, about 2.5 years have passed. The manifestation of clear orthopnoea has addressed the functional respiratory study towards a more thorough diaphragmatic evaluation assessed by ultrasound.

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Background: In ALS patients, diaphragmatic dysfunction is usually assessed by pulmonary function testing (PFTs) that requires patient cooperation. Evidence suggest that diaphragm ultrasound (DU) can be utilized, as an alternative to PFTs, to detect reduced diaphragmatic motility in ALS patients. This study aimed to verify the agreement between the results obtained by DU with those obtained by PFTs in both standing-up and supine positions.Methods: Twenty nine spinal ALS and thirteen healthy controls were studied in standing up and lying 30° supine position. All subjects performed PFTs and DU, to assess of diaphragmatic excursion, delta-thickness between end inspiration and end expiration (ΔT), and the thickening fraction (TF). Results: The standing position, ΔT correlates with VC (r=0.58p=0.001) and FVC (r=0.61 p<0.001); in lying 30° supine position, ΔT correlates with VC(r=0.59 p=0.001) and FVC (r=0.62 p<0.001). In standing up position, TF correlates with VC (r=0.55 p=0.003) and FVC (r=0.53 p=0.005); in lying 30° supine position, TF correlates with VC (r=0.55 p=0.003) and FVC (r=0.51 p=0.007). The following correlations were also observed: the standing position, diaphragmatic excursion correlated with VC(r=0.55 p=0.007) and FVC (r =0.65 p<0.001). In lying 30° supine position, diaphragmatic excursion correlated with VC(r=0.59 p=0.003); and FVC(r=0.63 p=0.001).Conclusion: DU adequately assesses the diaphragmatic impairment in ALS patients. Thickening and excursion appear as complementary indices in the evaluation of diaphragm motility.

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