Resumo

QUINTELA, Cátia et al. A rare case of primary ciliary dyskinesia with heterotaxy. Rev Port Pneumol [online]. 2009, vol.15, n.1, pp.115-120. ISSN 0873-2159.

Primary ciliary dyskinesia is an autosomal recessive disease with a clinical history of upper and lowers respiratory infections, rhinosinusitis and bronquitis associated with complete or partial situs inversus. The authors present a 78-year-old male caucasian patient with rhinosinusitis, lower respiratory tract infection and dyspnea, chronic otitis with hearing deficit and infertility followed in Gastroenterology for dyspepsia and constipation. The radiological studies revealed agenesis of right frontal sinus; bronchial wall thickening; bronchiectasis; cecum and ascending colon located on the left and small bowel occupies right side of abdomen. He had no immunodeficiency, allergies, cystic fibrosis and others. We concluded primary ciliary dyskinesia with heterotaxy. For the rarity of this case we decided to present it.

Palavras-chave : Primary ciliary dyskinesia; heterotaxy.

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