Sleep disorders in succinic semialdehyde dehydrogenase deficiency: a family report.
BACKGROUND
Succinic semialdehyde dehydrogenase deficiency (SSADH) is a rare neurometabolic disorder involving the degradation of gamma-aminobutyric acid. Clinically, SSADH deficiency causes progressive or static encephalopathy with late infantile to early childhood onset. It is known that sleep disorders are a common clinical finding in these patients. However, very few studies have investigated sleep disorders with polysomnographies.


OBJECTIVE
To analyze sleep disorders breathing, sleep architecture and paroxysmal EEG activity through polysomnographic recordings of two siblings suffering from SSADH deficiency


METHODS
Each patient underwent laboratory diurnal and overnight video-polysomnographic recordings in a room specially dedicated to mothers and their children.


RESULTS
The background EEG activity during quiet wakefulness consisted in abnormal, diffuse, low-voltage, disorganized slow theta waves. In both patients there was a general disorganisation of the sleep architecture with an increase of light sleep and a decrease of REM sleep. In patient 1, during sleep, there were 36 hypopneas, 13 central apneas and one obstructive apnea with a variable duration of 7-30s. The apnea/hypopnea index (AHI) was 7/h and oxygen saturation dropped to 80% during the respiratory events. In patient 2, the respiratory events consisted in 8 central apneas and 23 hypopneas of 6-20s; no obstructive apneas or hypopneas were observed. The oxygen saturation dropped to 90% during the apneas and the AHI was 5/h.


CONCLUSIONS
Sleep-disordered breathing (SDB) is a common finding in patients with SSADH deficiency and polysomnography recording is a useful tool for its diagnosis.
Racaru
Valentina M
VM
Paediatric Neurology Unit, Paediatric Department, Medicine-Pharmacy University, Cluj Napoca, Romania.
Pinard
Jean-Marc
JM
Cheliout-Heraut
Fawzia
F
D000367:Age Factors; D001921:Brain / Q000201:enzymology / Q000503:physiopathology; D001928:Brain Diseases, Metabolic / Q000150:complications* / Q000201:enzymology* / Q000503:physiopathology; D002648:Child; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008297:Male; D017286:Polysomnography; D011237:Predictive Value of Tests; D012891:Sleep Apnea Syndromes / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D012893:Sleep Wake Disorders / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D013826:Theta Rhythm; D055815:Young Adult
D050644:Succinate-Semialdehyde Dehydrogenase