Akademik Veri Yönetim Sistemi
Turkiye Klinikleri Pediatri, cilt.31, sa.3, ss.190-194, 2022 (Scopus)
Joubert syndrome (JS) is a rare ciliopathy characterized by neurodevelopmental delay and irregular breathing patterns. Here we present a patient with JS, who was misdiagnosed as having epilepsy. A five year-old girl with JS was referred due to excessive daytime sleepiness. She was diagnosed as having apneic seizures, and given anti-seizure medications with no benefit. Apneas were present during wakefulness lasting for more than one minute, with sudden myoclonic jerks characterized by the extension of the body and the flexion of the limbs at the resume of respiration with paradoxical breathing, hyperventilation and tachypnea. A full-night polysomnography (PSG) revealed pediatric obstructive and central sleep apnea syndromes. The patient was effectively treated by adaptive servo ventilation therapy. Respiratory control disturbances are commonly encountered in the children with JS. Although routine electroencephalography may be helpful in differentiation of the apneas of epileptic origin, polygraphic recordings and/or PSG better delineate the pathophysiology.