Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association

Saif Al-Yaarubi, Al Shaima Al-Abri, Hussein Al-Kindi, Mohamed Al-Abri, Tabinda Naz, Doaa Khater*

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء

1 اقتباس (Scopus)


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.

اللغة الأصليةEnglish
الصفحات (من إلى)815-821
عدد الصفحات7
دوريةSleep and Breathing
مستوى الصوت26
رقم الإصدار2
المعرِّفات الرقمية للأشياء
حالة النشرPublished - أغسطس 9 2021

ASJC Scopus subject areas

  • ???subjectarea.asjc.2700.2733???
  • ???subjectarea.asjc.2700.2728???


أدرس بدقة موضوعات البحث “Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association'. فهما يشكلان معًا بصمة فريدة.

قم بذكر هذا