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, 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.

Pulmonary Artery Pseudoaneurysm in a Child With ß-Thalassemia Major.

Pulmonary artery aneurysms and pseudoaneurysms are rare vascular anomalies in children that can lead to massive hemoptysis resulting in severe morbidity and even mortality. High level of clinical suspicion, timely diagnosis, and prompt management are important for a better outcome. Here, we report a case of a 14-year-old adolescent with ß-thalassemia major who presented with life-threatening hemoptysis due to pulmonary artery pseudoaneurysm and was successfully treated with coil embolization.

Cilia Ultrastructure Associated with Primary Ciliary Dyskinesia in Omani Patients.

Objectives: Primary ciliary dyskinesia (PCD) is a disorder affecting the structure and function of the motile cilia of the respiratory system. Transmission electron microscopy is one method that can be used to examine ciliary ultrastructure in airway biopsies. Although the role of ultrastructural findings in PCD has been described in the literature, this role has not been well-studied in the Middle East or, specifically, Oman. This study aimed to describe ultrastructural features in Omani patients with high suspicion of PCD. Methods: This retrospective cross-sectional study included 129 adequate airway biopsies obtained from Omani patients attending pulmonary clinics at Sultan Qaboos University Hospital and the Royal Hospital, Muscat, Oman, from 2010 to 2020 who were suspected of having PCD. Results: Ciliary ultrastructural abnormalities in the current study population were outer dynein arm (ODA) associated with inner dynein arm (IDA) defects (8%), microtubular disorganisation associated with IDA defect (5%) and isolated ODA defect (2%). Most of the biopsies showed normal ultrastructure (82%). Conclusion: In Omani patients suspected to have PCD, normal ultrastructure was the most common feature.

Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.

Objectives: To describe the demographic distribution of cystic fibrosis (CF) in Omani children, estimate the national prevalence, and provide updated mutational panels of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Methods: We conducted a retrospective cross-sectional study of all CF patients who had been diagnosed and followed-up at Sultan Qaboos University Hospital and Royal Hospital in Oman between 2006 and 2020. Data were collected from electronic hospital records and telephone interviews. Results: A total of 227 patients with CF were included in the study. Geographical clusters of the disease were identified in the governorates of Al-Batinah, A'Dhahirah, and A'Dakhiliyah. Parental consanguinity and family history of CF were present in 68.3% and 69.6% of the patients, respectively. The most common CFTR mutation was p.Ser549Arg (52.0%), followed by p.Phe508del (12.3%), and c.2988+1G>A (4.4%). Three novel CFTR mutations were identified, viz., Leu88TyrFs*, p.Asp192Val, and c.4242+1G>C. Conclusions: The estimated prevalence of CF in Oman is 10.3 per 100 000 individuals. Premarital genetic counseling and preimplantation genetic testing are recommended in CF-prevalent regions.

Superior Herniation of Normal Mediastinal Thymus.

Superior herniation of normal mediastinal thymus is a rare cause of anterior neck swelling, and only a few cases are reported in the literature. It clinically presents as a suprasternal swelling in the neck that appears during increased intrathoracic pressure. It is a benign condition that requires clinical and radiological awareness to avoid unnecessary investigations and invasive procedures. Ultrasound is the imaging of choice for the diagnosis, and management is conservative. This is a case report of a three-week-old male neonate who presented with anterior neck swelling and stridor, diagnosed as a case of superior herniation of normal thymus and was managed conservatively.

Invasive candidal laryngitis as a manifestation of cyclic neutropenia in an Omani infant.

Cyclic neutropenia is a congenital episodic defect in the development of neutrophils in the bone marrow. It is usually diagnosed late in infancy as it generally takes several cycles of neutropenia before the condition is suspected. These patients often have recurrent mild infectious episodes, but may develop life-threatening bacterial infections; however, they are unlikely to develop fungal infections as the neutropenia is usually self-limiting and of short duration. The authors report the case of an 8-month-old Omani female infant with cyclic neutropenia presenting as severe fungal (Candida) invasive laryngitis, needing life-saving tracheostomy and i.v. antifungal treatment.

A Triad of Temporomandibular Joint Ankylosis, Mandibular Retrognathia and Severe Obstructive Sleep Apnoea: Case report.

The surgical management of paediatric patients with temporomandibular joint (TMJ) ankylosis, mandibular retrognathia and obstructive sleep apnoea (OSA) is challenging. We report a nine-year-old boy who presented to the Department of Oral Health, Sultan Qaboos University Hospital, Muscat, Oman, in 2016 with complaints of limited mouth opening, loud snoring and excessive daytime sleepiness. He was diagnosed with TMJ ankylosis, mandibular retrognathia and severe OSA. The patient initially underwent mandibular distraction and, subsequently, release of the TMJ ankylosis and rib graft reconstruction. The overall patient outcome was successful, with improvement in OSA-related symptoms, good facial symmetry and adequate mouth opening.

Acute Idiopathic Pulmonary Haemorrhage in a 2 month old Infant: Case report and review of the literature.

Pulmonary haemorrhage is usually secondary to a systemic disease affecting the lung with or without other organ involvement. Idiopathic pulmonary haemorrhage is a diagnosis of exclusion; as described in the literature, it is a rare disease. We report a two months old infant who presented at the Emergency Department of Sultan Qaboos University Hospital, Oman, with respiratory failure and shock secondary to an acute severe pulmonary haemorrhage. Detailed investigations for pulmonary, cardiovascular, renal and systemic inflammatory causes were negative. His clinical presentation and radiological imaging were consistent with idiopathic pulmonary haemorrhage. Treatment with corticosteroids resulted in a remarkable and fast recovery from his critical respiratory status.

Lipoid Pneumonia Following Aspiration of Ghee (animal fat) in an Omani Infant.

We are reporting, what we believe, is the first case of biopsy proven exogenous lipoid pneumonia in an Omani infant. Exogenous lipoid pneumonia is caused by aspiration of oily products .One reason is the traditional practice of giving infants oily products (Ghee) as in our patient.