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.
Original language | English |
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Pages (from-to) | 815-821 |
Number of pages | 7 |
Journal | Sleep and Breathing |
Volume | 26 |
Issue number | 2 |
DOIs | |
Publication status | Published - Aug 9 2021 |
Keywords
- Dysmorphism
- Polysomnography
- Sanjad Sakati syndrome
- Sleep-disordered breathing
- Humans
- Sleep Apnea, Obstructive/diagnosis
- Abnormalities, Multiple
- Acrocephalosyndactylia
- Child, Preschool
- Sleep Apnea Syndromes/diagnosis
- Male
- Hypertension, Pulmonary/complications
- Osteochondrodysplasias
- Hypoparathyroidism
- Adolescent
- Quality of Life
- Female
- Growth Disorders
- Child
- Intellectual Disability
- Seizures
ASJC Scopus subject areas
- Otorhinolaryngology
- Clinical Neurology