No abstract

Respiratory dysfunction is a common cause of morbidity and mortality in motor neuron disease (MND). However, classical volitional measures of respiratory function in these patients are impeded by, e.g., bulbar paralysis or progressive disability. Diaphragm ultrasound imaging might be a valuable tool for assessing respiratory impairment, albeit different ultrasound measures have not been systematically investigated in adult MND patients and, in particular, have not yet been comparatively applied in adult patients with amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). We hypothesized that in contrast to ALS patients, adult SMA patients show a relative sparing of diaphragm function. We retrospectively analyzed diaphragm ultrasound imaging data of 40 patients with ALS and 23 patients with SMA in comparison to a multitude of established parameters of respiratory function. Indeed, ALS patients showed more severe diaphragm dysfunction than adult SMA patients, however, diaphragm dysfunction was also common in adult SMA patients. Notably, dynamic measures of diaphragm function rather than thickness measures were impaired in ALS compared to SMA. Thus, diaphragm ultrasound imaging might be a useful tool to evaluate respiratory dysfunction in adult MND patients. Future larger and prospective studies are needed to validate our initial findings.

Moderate to severe nocturnal hypoxemia seems to be common and is not related to sleep apnoea and lung function in patients with PPHT. The absence of exertional hypoxemia does not exclude NOS. We recommend to perform overnight oximetry in the routine examination of PPHT patients because nocturnal oxygen supplementation should be considered in patients with NOS.

Obstructive sleep apnea during pregnancy, associated with arterial hypertension, pre-eclampsia and adverse outcome of the newborn, has been described. Usually it can successfully be treated with non-invasive ventilation. A 36-year-old, twin-pregnant woman at 28 + 6 weeks of gestation presented with the complaints of snoring and nocturnal oxygen desaturations. Polysomnography confirmed the diagnosis of severe obstructive sleep apnea (respiratory disturbance index [RDI] 104/h, minimal oxygen saturation in pulse oximetry [SpO2/min] 75%). First therapeutic approaches including oxygen supplementation, non-invasive ventilation with continuous positive airway pressure (CPAP) or bilevel positive airway pressure--spontaneous (BiPAP-S) remained without success. Only after ventilation with bilevel positive airway pressure in spontaneous/timed modus (BiPAP-ST) combined with additional oxygen supplementation a satisfactory treatment result could be achieved (RDI 32/h, SpO2/min 85%). Because of progressive pre-eclampsia despite therapy at 31 + 0 weeks of gestation cesarean section was performed and 2 healthy children were delivered. After surgery non-invasive ventilation had to be continued for another six weeks before the condition improved. In contrast to the documented benefits of non-invasive positive pressure ventilation in pregnant women the literature, in our case even with sufficient therapy of sleep apnea progressive pre-eclampsia and premature delivery could not be prevented. Possible explanations include the short treatment duration and existence of twin pregnancy.