Polysomnographic findings in rare McLeod disease: Is sleep apnea syndrome a new feature?

Study Objectives To evaluate the sleep patterns in a series of 4 patients affected by rare McLeod disease (MLS).

Design Case series of 4 patients with attended Sleep laboratories of three centers. Patients: 4 MLS patients (mean age 53.8±2.5 y).

Methods Subjective sleep evaluation: Epworth Sleepiness Scale (ESS); Objective evaluation: genetic tests, documentation of clinical course and features, Laboratory-based full-night attended video-polysomnography.

Measurements and Results In three out of four patients an ESS score≥7 was evident. The average Apnea-/Hypopnea Index (AHI) was 45.0±19.0 with predominantly obstructive phenotype (OSA) in 3 patients and majorly central events (Central sleep apnea syndrome, CSAS) in one patient. Significantly increased periodic limb movement index (PLMI) during sleep was observed in all patients. All patients tolerated non-invasive ventilation (NIV) therapy.

Conclusions Polysomnography (PSG) of all patients revealed a severe sleep apnea syndrome (SAS) as a potential new feature of MLS. Three patients were diagnosed with OSA and one with CSAS. In addition, similar to Huntington's Disease (HD), PLMI was increased in all patients.

Publikationsverlauf

Artikel online veröffentlicht:
09. März 2023