Primary ciliary dyskinesia (PCD) causing idiopathic tachypnoea in newborn

![CDATA[PCD is an uncommon autosomal recessive disease, caused by mutations in various genes involving structure or function of cilia, causing impaired clearance of mucus and pathogens and chronic sinopulmonary disease. The ciliary abnormality causes random determination of situs, so 50% of patients have situs inversus/dextrocardia. A fullterm boy weighing 3725 gm after an uncomplicated pregnancy had Apgar scores of 9/1 and 9/5. His P6 G9 mother had a cousin with dextrocardia, her family is consanguineous. No resuscitation was required, but from age 31 hours, 7 days of supplemental oxygen was needed for tachypnoea of newborn, with mucopurulent upper respiratory secretions. ChestXray showed dextrocardia and situs inversus. Echocardiography showed ASD and a small patent foramen ovale. Cilia on nasal mucosal brushings were completely immotile on light microscopy and the number of inner and outer dynein arms was markedly deficient on EM.]]