Severe sleep-disordered breathing in a patient with Brown–Vialetto–Van Laere syndrome: Polysomnographic findings

Cor pulmonale in a patient with Brown–Vialetto–Van Laere syndrome: A case report

“…Our patient presented with hypoxia and chronic CO 2 retention, probably as a result of hypoventilation in the awake state and sleep apnea. Diaphragmatic weakness leading to hypoventilation is a well known feature of BVVLS, but sleep apnea has only recently been better characterized and is predominantly central in origin [9]. Brainstem respiratory center involvement and, conceivably, respiratory muscle weakness are the likely underlying causes of respiratory failure in our patient.…”

“…Disability may develop rapidly [8] or in a slow progressive fashion [9]. Some patients may remain clinically stable for many years [10].…”

NREM-AHI greater than REM-AHI versus REM-AHI greater than NREM-AHI in patients with obstructive sleep apnea: clinical and polysomnographic features

“…Overnight polysomnography was performed using a 60-channel system (Embla N7000 system; Medcare; Reykjavik, Iceland) in the sleep laboratory as described in our previous study [18,19]. Briefly, measured variables including electroencephalogram (C3-A2, C4-A1, O1-A2, O2-A1), electro-oculogram, submental and bilateral tibial electromyogram, and electrocardiogram were continuously recorded.…”

Brown-Vialetto-Van Laere syndrome

“…Sensory action potentials are rarely reduced [ 4 , 6 , 7 ]. Visual evoked potentials performed in 15 cases showed normal values in seven patients [ 9 , 14 , 25 , 28 , 32 , 33 ] and prolonged latencies in the rest [ 5 , 7 , 10 , 12 , 13 , 15 , 19 , 21 , 29 ]. Brainstem auditory evoked potentials were abnormal when performed in 17 cases [ 4 , 5 , 8 , 10 , 12 - 15 , 21 , 25 , 27 , 32 , 33 ].…”

“…Electrocardiogram showed incomplete right bundle branch block in one case [ 4 ]. Polysomnography demonstrated predominantly central sleep apnea with minimal obstructive sleep apnea in one case [ 32 ].…”