[Primary ciliary dyskinesia, presentation of an atypical case].
Primay ciliary dyskinesia is a rare autosomal recessive disorder, characterized by abnormal ciliary structure and function and chronic lung, sinus and middle ear disease. A 45-year-old man with a history of recurrent respiratory infections, which was developped in the adult age, and was presented with moderate clinical involvement, and spermatic hypomotility in seminogram. Diagnosis and differential diagnosis was based on the typical clinical picture and the electron microscopical demonstration of ultrastructural abnormalities. We found abnormal number of cilia on the bronchial mucosa cells and the ciliary structure was abnormal too. We observed abnormally short dynein arms and defective radial spokes.
Martínez Albaladejo
M
M
Sección de Infecciosas, Sección de Neumología, Hospital Santa Maria del Rosell, Cartagena, Murcia.
Pignatelli Albarracín
F
F
Orts Arqueros
C
C
de la Torre Alvaro
J
J
Berlinches Acín
P
P
D002925:Ciliary Motility Disorders / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008875:Middle Aged