Sanjad Sakati Syndrome and Sleep disordered breathing: an undisclosed association

Sanjad Sakati syndrome (SSS) is a rare autosomal recessive genetic disorder caused by mutation in TBCE gene. We report the clinical manifestations, outcome and an observed new association of sleep disordered breathing among children with SSS. <bold>Method:</bold> Clinical and laboratory data of SS cases attending SQUH were collected from electronic patient records and through direct clinic interview. In lab polysomnography and echocardiography were carried for all patients <bold>Results:</bold> 12 patients with SSS, 5 male 42%, all of them had obstructive sleep apnea and 4 of them 33% had additional siginificant central apnea and sleep related hypoventilation. Eight 67% had severe SDB with mean AHI of 26.5 event per hour. Two patients had severe piulmonary hypertension. Sleep disordered breathing is prevalent among children with SSS, especially OSA. This is first study to report SDB in a large cohort of extremly rare syndrome. The study result encourage the importance of screening affected patients with SSS for SDB early before developing sevre morvidities such as pulmonary hypertension that further compromise quality of life.