ABSTRACT
BACKGROUND: To analyze the clinical data and next generation sequencing (NGS) results from a child with 22q11.2 deletion syndrome (22q11DS) complicated with pulmonary alveolar proteinosis (PAP) who was admitted to the Department of Pediatrics of Fuyang People's Hospital and to present a review of the literature. CASE PRESENTATION: A 9-year-old male child, whose face had a small mandible and high-arched palate, but lacked a cleft palate, had repeated respiratory tract infections and bronchiectasis. Clinical examination, computer tomography, and electronic bronchoscopy were performed. Genetic testing via NGS was undertaken. PAP was confirmed by Periodic Acid Schiff staining of milky white alveolar lavage fluid isolated by electronic bronchoscopy. A deletion of approximately 2.46 Mbp on chromosome 22q11.2 was confirmed by NGS. During hospitalization, anti-infection, nebulization, alveolar lavage, and regular application of thymosin were administered to the patient. The condition of the patient stabilized following treatment. CONCLUSIONS: 22q11DS and PAP are both rare diseases, and the manifestation of 22q11DS combined with PAP has not been previously reported. The diagnosis and treatment of this case will be a reference for future clinical work.
Subject(s)
Cleft Palate , DiGeorge Syndrome , Pulmonary Alveolar Proteinosis , Male , Humans , Child , Pulmonary Alveolar Proteinosis/complications , Pulmonary Alveolar Proteinosis/diagnosis , Pulmonary Alveolar Proteinosis/genetics , DiGeorge Syndrome/complications , Bronchoalveolar Lavage/methods , Bronchoalveolar Lavage Fluid , Therapeutic IrrigationABSTRACT
We described the first case of transvenous embolization with Onyx for a cerebral arteriovenous fistula (CAVF) originating from the distal lenticulostriate artery (LSA). A 16-year-old patient presented with right intraventricular hemorrhage. Angiography demonstrated that CAVF originating from the right distal LSA directly connected to the contralateral basal vein of Rosenthal. We treated the fistula with Onyx through transvenous approach by the balloon-assisted method. CAVF was completely obliterated and remained closed as ascertained by follow-up angiograms.
