Saif Al-Yaarubi1, Al-Shaima Al-Abri2, Hussein Al-Kindi1, Mohamed Al-Abri3, Tabinda Naz1, Doaa Khater1,4. 1. Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman. 2. Pediatric Residency Program, Oman Medical Specialty Board, Muscat, Oman. 3. Department of Clinical Physiology (Sleep Medicine Unit), Sultan Qaboos University Hospital, Muscat, Oman. 4. Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Abstract
BACKGROUND: Sanjad Sakati syndrome (SSS) is a rare autosomal recessive genetic disorder caused by mutation in TBCE (tubulin folding cofactor E) gene. Reported cases were almost exclusively of Middle-Eastern and Arabian children of consanguineous parents. We report the clinical manifestations, outcome, and an observed new association of sleep-disordered breathing (SDB) among children with Sanjad Sakati syndrome. METHODS: Clinical and routine laboratory data of SSS cases attending Sultan Qaboos University Hospital, Oman, were collected from the electronic patient records or through direct clinic interviews. In-lab polysomnography (PSG) and echocardiography were carried out for all the cases. SDB diagnosis was based on the guidelines of the American Academy of Sleep Medicine. RESULTS: Of 12 patients with SSS, 5 males (42%), all of them (100%) had obstructive sleep apnea (OSA) and 4 of them (33%) had additional significant central apnea and sleep-related hypoventilation. Eight patients (67%) had severe SDB with mean apnea-hypopnea index (AHI) of 26.5 events/h. Age at time of diagnosis with SDB ranged from 2 to 17 years with mean of 8.9 [Formula: see text] Two patients had severe pulmonary hypertension as a complication of severe SDB and died from type 2 respiratory failure. CONCLUSIONS: Sleep-disordered breathing is prevalent among children with SSS, especially OSA. This is the first study to report SDB in a large cohort of patients with this extremely rare syndrome. The study results encourage the importance of screening affected patients with SSS for sleep-disordered breathing early before developing severe morbidities such as pulmonary hypertension that further compromise their quality of life.
BACKGROUND: Sanjad Sakati syndrome (SSS) is a rare autosomal recessive genetic disorder caused by mutation in TBCE (tubulin folding cofactor E) gene. Reported cases were almost exclusively of Middle-Eastern and Arabian children of consanguineous parents. We report the clinical manifestations, outcome, and an observed new association of sleep-disordered breathing (SDB) among children with Sanjad Sakati syndrome. METHODS: Clinical and routine laboratory data of SSS cases attending Sultan Qaboos University Hospital, Oman, were collected from the electronic patient records or through direct clinic interviews. In-lab polysomnography (PSG) and echocardiography were carried out for all the cases. SDB diagnosis was based on the guidelines of the American Academy of Sleep Medicine. RESULTS: Of 12 patients with SSS, 5 males (42%), all of them (100%) had obstructive sleep apnea (OSA) and 4 of them (33%) had additional significant central apnea and sleep-related hypoventilation. Eight patients (67%) had severe SDB with mean apnea-hypopnea index (AHI) of 26.5 events/h. Age at time of diagnosis with SDB ranged from 2 to 17 years with mean of 8.9 [Formula: see text] Two patients had severe pulmonary hypertension as a complication of severe SDB and died from type 2 respiratory failure. CONCLUSIONS: Sleep-disordered breathing is prevalent among children with SSS, especially OSA. This is the first study to report SDB in a large cohort of patients with this extremely rare syndrome. The study results encourage the importance of screening affected patients with SSS for sleep-disordered breathing early before developing severe morbidities such as pulmonary hypertension that further compromise their quality of life.
Authors: R Parvari; E Hershkovitz; A Kanis; R Gorodischer; S Shalitin; V C Sheffield; R Carmi Journal: Am J Hum Genet Date: 1998-07 Impact factor: 11.025
Authors: Edward O Bixler; Alexandros N Vgontzas; Hung-Mo Lin; Duanping Liao; Susan Calhoun; Antonio Vela-Bueno; Fred Fedok; Vukmir Vlasic; Gavin Graff Journal: Sleep Date: 2009-06 Impact factor: 5.849