Spectrum of upper airway pathology in children with Down syndrome in a single tertiary centre.

BACKGROUND: Down syndrome (DS) is the most common human chromosomal genetic disorder; caused by extra copy of chromosome 21-one out of 792 babies globally and one in 950 in Malaysia. OBJECTIVES: To obtain spectrum of upper airway pathology in DS children-prevalence, causes and management practices. MATERIALS AND METHODS: A cross-sectional study of children with DS aged less than 18 years old with signs of UAO was conducted. Diagnosis of UAO, management and final outcome was observed and documented. RESULTS: Ninety-one patients were recruited. 20 cases (22%) had significant noisy breathing which indicates the prevalence of upper airway pathology (p=.025). Laryngomalacia (34.5%) was the most common pathology, followed by paediatric SDB (24.1%), tracheal bronchus (17.2%), tracheal stenosis (6.9%), and tracheomalacia (6.9%). Seven cases (7.7%) presented with respiratory distress. 12 cases were managed conservatively, while eight cases required further investigations under general anaesthesia (GA) with/without surgical intervention. Six cases showed symptoms resolution within a week post-surgical intervention, and another case resolved after 30 days and one case resolved after 8 months of post-surgical intervention. CONCLUSION AND SIGNIFICANCE: Early detection and high index of suspicion is required to diagnose and treat these anomalies timely.

Unusual case of ascites secondary to unilateral distal ureteric obstruction in an infant.

Congenital obstructive uropathy is a rare cause of ascites in infants. Majority of reported cases of genitourinary causes of ascites were due to posterior urethral valve. Here, we report a 6-month-old boy who presented with progressive tense ascites and peritonitis attributed by unilateral left distal ureteric obstruction and acute pyonephrosis. He underwent left nephrostomy placement, after which there was a remarkable improvement of ascites. He then underwent left ureteral diversion procedure a month later with a tentative plan for ureteral reanastomosis in 6 months. To date, there are no reports describing ascites secondary to distal ureteric obstruction beyond the neonatal period. The objective of this case report is to highlight unilateral urinary tract obstruction as a potential cause of transudative ascites. Additionally, the superimposed infection in the obstructed collecting system can lead to acute peritonitis likely due to translocation of bacteria into the peritoneal cavity.

Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity.

Pfeiffer syndrome is a rare inherited craniofacial disorder. Upper airway obstruction is common among patients with Pfeiffer syndrome due to craniosynostosis. They may also present with lower respiratory tract obstruction due to a rare congenital airway malformation called tracheal cartilaginous sleeve (TCS). We report the case of a patient with Pfeiffer syndrome who presented with recurrent bronchopneumonia, discovered incidentally to have TCS via direct visualisation during tracheostomy. Relevant literature for this rare clinical condition are reviewed and discussed. Clinicians should be aware of TCS when encountering patients with craniosynostosis who present with recurrent lower respiratory tract infections. Careful and meticulous investigations should be performed to look for TCS, especially in patients with craniosynostosis.

Giant Cell Tumor of the Ribs and Aneurysmal Bone Cyst Presenting With Hemothorax in a Child.

Giant cell tumor (GCT) is one of the most common tumors of bone and is the most common precursor of aneurysmal bone cysts (ABC). The clinical behavior of concurrent GCT and ABC can be very aggressive in children. GCT of the ribs, with or without ABC, is rarely seen in children. We report a case of an 8-year-old girl with GCT and associated ABC of the ribs who presented with sudden onset of chest pain and breathlessness due to a hemothorax. The patient was successfully treated by surgical resections and arterial embolization. She has remained well for 4 years after the initial surgery.

Total pleurectomy as the surgical treatment for recurrent secondary spontaneous pneumothorax in a child with severe pulmonary Langerhans cells histiocytosis.

Pulmonary Langerhans cell histiocytosis (LCH) in children is more extensive and is a rare cause of spontaneous secondary pneumothorax (SSP) which tends to be recurrent and refractory to conventional treatment. Its occurrence in paediatric patients posed great challenge to the choice of surgical management. Surgery in the form of pleurodesis is only considered if SSP does not improve after chemotherapy and after considering all relevant risk and benefits of surgery to patients. Chemical pleurodesis will not give the expected effect to eradicate SSP in this patient. Therefore mechanical pleurodesis is the treatment of choice. There are various techniques to perform mechanical pleurodesis; from pleural abrasion to pleurectomy. In the authors' experience, bilateral total pleurectomy provided the best outcome for this 9-year-old patient with persistent respiratory distress from SSP due to extensive pulmonary LCH.