Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings.
Brown-Vialetto-Van Laere (BVVL) syndrome is a rare disorder with clinical features that include progressive bilateral sensorineural deafness and a variety of cranial nerve impairments. Respiratory compromise has been observed in most familial and sporadic cases; however, few studies have been published regarding sleep-disordered breathing in this syndrome. We report the unique case of a 16-year-old girl with the clinical features of BVVL syndrome who presented with bilateral sensorineural hearing loss and then progressively developed paralysis of the 7th and 9th-12th cranial nerves. More importantly, she presented with the unusual feature of severe sleep-disordered breathing. A polysomnographic study showed evidence of dominant central sleep apnea, and the majority of apneic episodes more likely occurred in stage 2 during NREM sleep. The central sleep apnea was associated with rapid respiratory deterioration and death. This report raises the fact that a patient with BVVL syndrome may present with severe sleep-disordered breathing as a life-threatening condition, which emphasizes the need for greater attention to the early detection of potential sleep-disordered breathing in these afflicted with the BVVL syndrome for optimal clinical management.
Sleep Disorders Center, Tangdu Hospital, The Fourth Military Medical University, Xi'an City, Shaanxi Province, China.
Jianting
J
Miao
Hongzeng
H
Li
Hong
H
Lin
Changjun
C
Su
Yu
Y
Liu
Gesheng
G
Lei
Ting
T
Yang
Zhuyi
Z
Li
D000293:Adolescent; D010244:Bulbar Palsy, Progressive / Q000150:complications*; D005158:Facial Paralysis / Q000150:complications*; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000627:therapeutic use; D017286:Polysomnography / Q000379:methods*; D012891:Sleep Apnea Syndromes / Q000188:drug therapy / Q000209:etiology*; D014826:Vocal Cord Paralysis / Q000150:complications*
D007136:Immunoglobulins