Hcrt-1 level was in the normal range (364.4 pg/mL). A typical spell, evoked by a suggestion maneuver, was recorded during video-PSG, showing ictal persistence of EMG muscle tone, deep tendon reflexes, and normal wake EEG ( Video 1).
Human Leucocyte Antigen typing revealed the HLA-DQB1*0602 allele. MSLT showed borderline sleep latency (9 min) with 1/5 SOREMP. During 48-h polysomnography (PSG) she had SOREMPs in both daytime and nighttime sleep in the absence of sleep disordered breathing (apnea-hypopnea index of 0/h). Cardiological evaluation and testing and brain MRI were normal. At our observation she had a BMI of 31.24 kg/m 2 and an Epworth Sleepiness Scale (ESS) score of 12. She also increased weight and, at 16 years, daytime sleepiness appeared. After an initial cluster, episodes frequency settled to 1-2 per month. Since 14 years of age, she has had sudden falls to the ground, occurring both while standing or sitting and elicited by emotions, with immobility for up to few minutes. Patient 1 is a 17-year-old female presenting with frequent episodes (up to 5-6 per day) of sudden shortness of breath since age 13 years, followed by occasional apparent loss of consciousness.
0 kommentar(er)
