BackgroundMutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease and unique angiogenesis.Case presentationHere, we describe a 1-year-old Saudi female child with respiratory distress at birth. The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency. Molecular testing showed a new pathogenic variant of one copy of c.3153dupC in exon 21 in the FLNA gene.ConclusionsOur data support previous reports in the literature that associate FLNA gene mutation and lung disease.

Background Primary ciliary dyskinesia (PCD) is a ciliopathy with diverse clinical and genetic findings caused by abnormal motile cilia structure and function. In this study, we describe the clinical characteristics of confirmed PCD cases in our population and report the radiological, genetic, and laboratory findings. Methods This was a retrospective, observational, single-centre study. We enrolled 18 patients who were diagnosed with confirmed PCD between 2015 and 2019. We then analyzed their data, including clinical findings and workup. Results In our cohort, 56% of patients had molecularly confirmed PCD, and RSPH9 was the most common gene identified. Transmission electron microscopy (TEM) showed an ultrastructural defect in 64% of samples, all of which matched the genetic background of the patient. Situs inversus (SI) was observed in 50% of patients, and congenital heart disease was observed in 33%. The median body mass index (BMI) was 15.87 kg/m 2 , with a median z score of -1.48. The median FEV1 value was 67.6% (z score - 2.43). Radiologically, bronchiectasis was noted in 81% of patients at a variable degree of severity. Lung bases were involved in 91% of patients. We were unable to correlate the genotype-phenotype findings. Conclusion We describe the clinical and molecular characteristics of patients with confirmed PCD in a tertiary centre in Saudi Arabia and report 9 new pathogenic or likely pathogenic variants in one of the PCD-associated genes.

Background Surfactant protein C dysfunction is one of the causes of childhood interstitial lung disease but has not previously been reported in Arabian countries. Case presentation A six-year-old girl had presented at the age of eight months old with bronchiolitis followed by a persistent cough, dyspnea and hypoxaemia. She was found to have gastroesophageal reflux disease, but her symptoms did not resolve despite her therapy being optimised. Further tests, including a chest computed tomographic scan, lung biopsy and genetic testing, confirmed a diagnosis of surfactant protein C dysfunction. Conclusion We report the first case in the Arab region of childhood interstitial lung disease caused by surfactant protein C deficiency.

Background: Prader-Willi syndrome (PWS) is a genetic disorder with multisystem involvement. Bariatric laparoscopic Sleeve Gastrectomy (SG) surgery has been proposed as a means of weight control in PWS patients. There is some controversy around sleeve gastrectomy as a management strategy in PWS to control Obstructive Sleep Apnea (OSA). Case-Series:In this case series we are questioning the effectiveness of bariatric gastric sleeve surgery as a long-term solution for weight control. Therefore, we followed up four patients with PWS in our center who had SG and evaluated their growth parameters along with symptoms of sleep disordered breathing. The median age of patients in this group was 7.5 years. There were three males and one female. The average Body Mass Index (BMI) prior to SG was 40.5. The average BMI after SG, at 5-7 years, was 40.8. This shows an insignificant effect of SG on BMI and control of OSA on follow-up over more than 5 years. Conclusion:We believe that SG has limited and transient success for obesity management in PWS patients, especially in the absence of a multidisciplinary team that can provide behavioral therapy, nutritional plan, and psychosocial support. Further studies are necessary to compare the long-term outcome sleeve gastrectomy with behavioral and strict nutritional therapy.

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Abstracts A256 ADC 2019;104(Suppl 3):A1-A428 2. Rand CM, Patwari PP, Rodikova, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. Pediatr Res. 2011; 70:375-8. 3. Bougneres P, Pantalone L, et al. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome.

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