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

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...

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Bibliographic Details
Published in:Sleep & breathing 2022-06, Vol.26 (2), p.815-821
Main Authors: Al-Yaarubi, Saif, Al-Abri, Al-Shaima, Al-Kindi, Hussein, Al-Abri, Mohamed, Naz, Tabinda, Khater, Doaa
Format: Article
Language:English
Subjects:
Abnormalities, Multiple
Acrocephalosyndactylia
Adolescent
Apnea
Autosomal recessive inheritance
Child
Child, Preschool
Children
Dentistry
Diagnosis
Echocardiography
Genetic disorders
Growth Disorders
Hereditary diseases
Humans
Hypertension
Hypertension, Pulmonary - complications
Hypoparathyroidism
Hypoventilation
Intellectual Disability
Internal Medicine
Male
Medicine
Medicine & Public Health
Neurology
Osteochondrodysplasias
Otorhinolaryngology
Patients
Pediatrics
Pneumology/Respiratory System
Pulmonary hypertension
Quality of Life
Respiration
Respiratory failure
Seizures
Sleep
Sleep apnea
Sleep Apnea Syndromes - diagnosis
Sleep Apnea, Obstructive - diagnosis
Sleep Breathing Physiology and Disorders • Short Communication
Sleep deprivation
Sleep disorders
Tubulin
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Summary: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 ± 4.7 years . 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.
ISSN:1520-9512
1522-1709
DOI:10.1007/s11325-021-02463-4