Ciliary aplasia associated with hydrocephalus: an extremely rare occurrence.
Ciliary aplasia is a rare congenital disease that alters the normal function of the mucociliary apparatus in several organs. Patients generally present with severe recurrent and chronic infections of the airways. A high suspect of this disorder is mandatory to perform correct diagnosis and provide prompt treatment. The authors describe the history of two siblings affected by primary ciliary aplasia that was associated with hydrocephalus in one case. A careful description of diagnostic procedures and treatment of this extremely rare disorder is also presented.
Department of Pediatric Otorhinolaryngology, Spedali Civili, Piazza Spedali Civili 1, 25123 Brescia, Italy. marco.berlucchi@tin.it
Marco
M
Berlucchi
Maria Margherita
MM
de Santi
Elisa
E
Bertoni
Elena
E
Spinelli
Silviana
S
Timpano
Rita
R
Padoan
D001980:Bronchi / Q000648:ultrastructure; D002648:Child; D002908:Chronic Disease; D002925:Ciliary Motility Disorders / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications*; D008297:Male; D046529:Microscopy, Electron, Transmission; D009297:Nasal Mucosa / Q000648:ultrastructure; D020545:Respiratory Mucosa / Q000648:ultrastructure