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

Sleep Breath. 2022 Jun;26(2):815-821. doi: 10.1007/s11325-021-02463-4. Epub 2021 Aug 9.


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.

Keywords: Dysmorphism; Polysomnography; Sanjad Sakati syndrome; Sleep-disordered breathing.

MeSH terms

  • Abnormalities, Multiple
  • Acrocephalosyndactylia
  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Growth Disorders
  • Humans
  • Hypertension, Pulmonary* / complications
  • Hypoparathyroidism
  • Intellectual Disability
  • Male
  • Osteochondrodysplasias
  • Quality of Life
  • Seizures
  • Sleep Apnea Syndromes* / diagnosis
  • Sleep Apnea, Obstructive* / diagnosis

Supplementary concepts

  • Hypoparathyroidism-retardation-dysmorphism syndrome
  • Sakati syndrome