Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation.

Rett syndrome (RTT, MIM * 312750) is an X-linked neurodevelopmental disorder caused by pathogenic variants at the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2, MIM * 300005). The spectrum of MECP2-related phenotypes is wide and it ranges from asymptomatic female carriers to severe neonatal-onset encephalopathy in males. Abnormal breathing represents one of the leading features, but today little is known about polysomnographic features in RTT females; no data are available about males. We report the case of a male of Moroccan origins with a MECP2 pathogenic variant and a history of encephalopathy and severe breathing disturbances in the absence of dysmorphic features. For the first time we describe in detail the polysomnographic characteristics of a MECP2-mutated male and we show the relevance of severe central apneas, which may represent a new clinical clue to suggest the diagnosis. Moreover, we want to highlight the importance to maintain a high index of suspicion for MECP2-related disorders in the presence of severe hypotonia, apneic crises, and respiratory insufficiency in males to permit an earlier diagnosis and the consequent definition of recurrence risk of the family and to avoid other useless and invasive exams.

Implication of mixed sleep apnea events in adult patients with obstructive sleep apnea-hypopnea syndrome.

PURPOSE: Although mixed sleep apnea (MSA) is one of the three types of sleep apnea, it is not considered a separate disease entity. It is generally seen as a part of obstructive sleep apnea-hypopnea syndrome (OSAHS), but its implications are often ignored. In this study, we examined its features and the potential impact on OSAHS patients. METHODS: Subjects diagnosed with OSAHS by polysomnography (PSG) were enrolled. All participants underwent physical checkups and tests of blood biochemistry. They were anthropometrically, clinically, and polysomnographically studied. RESULTS: MSA events were common in patients with severe OSAHS patients. There were significant differences between the pure OSAHS group and its mixed counterpart in apnea-hypopnea indices during REM (AHIREM) and non-REM (AHINREM) and in percentages of N2 or N3 sleep. Logistic regression analysis showed that, after adjustment of other parameters, patients with MSA events were mostly male, had higher body mass index (BMI), higher scores on Epworth Sleepiness Scales (ESS), higher triglyceride (TG) levels, and higher apnea-hypopnea index (AHI). The combined predictive probability of the aforementioned variables was 0.766 (95% CI = 0.725~0.806; sensitivity 61.6%, specificity 82.1%). CONCLUSIONS: Our study suggested that MSA was related to the stability of the ventilatory control in OSAHS patients. MSA events occur more frequently in patients with severe OSAHS, and male gender, obesity, daytime sleepiness, and elevated TG levels were risk factors for the mixed OSAHS.