1. PARANASAL MUCOCELE IN CYSTIC FIBROSIS CHILDREN °Di Cicco M. MD *Costantini D.MD. *Colombo C.MD °Otorhinolaryngology Dept., *Pediatrics Dept. CF Centre, University of Milan - Milan, ITALY PARANASAL MUCOCELE IN CYSTIC FIBROSIS CHILDREN °Di Cicco M. MD *Costantini D.MD. *Colombo C.MD °Otorhinolaryngology Dept., *Pediatrics Dept. CF Centre, University of Milan - Milan, ITALY INTRODUCTION In Cystic Fibrosis (CF) the congenital epithelium alterations causing excessively viscous mucus, bacterial overgrowth and infection, lead to paranasal sinuses obstruction. This condition in rare cases evolves in a slow concentric expansion named mucocele, that displaces and destroys surrounding structures and can cause local, orbital and intracranial complications. The aim of our study was to evaluate the prevalence of this complication and the efficacy of endoscopic sinus surgery in CF patients during the first years of life. INTRODUCTION In Cystic Fibrosis (CF) the congenital epithelium alterations causing excessively viscous mucus, bacterial overgrowth and infection, lead to paranasal sinuses obstruction. This condition in rare cases evolves in a slow concentric expansion named mucocele, that displaces and destroys surrounding structures and can cause local, orbital and intracranial complications. The aim of our study was to evaluate the prevalence of this complication and the efficacy of endoscopic sinus surgery in CF patients during the first years of life. MATHERIAL AND METHODS In our series of 242 patients affected with a CF diagnosis through newborn screening, 55 had evidence of chronic upper airway disease (CUAD). There was a female predominance (31 females, 24 males), and no incidence peak in any age group (mean age 3 + 1.2 yrs, range 0.8 –12 yrs). Genotype was classified as severe in all but one patient; 20 patients were homozygous for Delta F 508 mutation, 20 were Delta F 508 compound heterozygous, the remainder carried other severe mutations. Diagnosis of mucoceles (five maxillary bilateral, one maxillary unilateral, three maxillary and etmoidal mucoceles) was made by means of CT scan in 9/15 who performed the examination, showing a prevalence of 16.4% among patients with symptoms ( 9/55) and nasal endoscopy. Median age at diagnosis was 4+0.5 yrs, ranging from 0.5 to 7 yrs, Endocopic sinus surgery was performed in all cases. The follow-up period ranged from 3mo to 6yrs with only one recurrence observed. All patients presented with persistent rhinorrhea, snoring since birth with SaO2 decrease, respiratory distress in absence of other rhino-oro-pharyngeal pathologies. Diagnosis was performed by means of CT scan of paranasal sinuses. MATHERIAL AND METHODS In our series of 242 patients affected with a CF diagnosis through newborn screening, 55 had evidence of chronic upper airway disease (CUAD). There was a female predominance (31 females, 24 males), and no incidence peak in any age group (mean age 3 + 1.2 yrs, range 0.8 –12 yrs). Genotype was classified as severe in all but one patient; 20 patients were homozygous for Delta F 508 mutation, 20 were Delta F 508 compound heterozygous, the remainder carried other severe mutations. Diagnosis of mucoceles (five maxillary bilateral, one maxillary unilateral, three maxillary and etmoidal mucoceles) was made by means of CT scan in 9/15 who performed the examination, showing a prevalence of 16.4% among patients with symptoms ( 9/55) and nasal endoscopy. Median age at diagnosis was 4+0.5 yrs, ranging from 0.5 to 7 yrs, Endocopic sinus surgery was performed in all cases. The follow-up period ranged from 3mo to 6yrs with only one recurrence observed. All patients presented with persistent rhinorrhea, snoring since birth with SaO2 decrease, respiratory distress in absence of other rhino-oro-pharyngeal pathologies. Diagnosis was performed by means of CT scan of paranasal sinuses. Fig.1-2 : Maxillary sinus bilateral mucocele of CF patient (“hourglass image”) and postoperative picture of left antral antrostomy. Fig. 3-4-5: Anterior ethmoidal right mucocele. TC scan, endoscopic and postoperative view of an ethmoidal mucocele Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 RESULTS AND CONCLUSIONS We haven’t been faced with particular intraoperative complications during surgery (FESS) and it has been always possible to remove completely the neoformation, infected in three cases (pyomucocele) by Pseudomonas aeruginosa. All symptoms and particularly SaO2 decrease dramatically regressed after mass removal and no recurrency was observed after 24 months at follow up. Pediatric sinus pathology with this kind of clinical aspects occurs almost exclusively in CF patients and an early diagnosis with an ENT endoscopic evaluation and CT scan in our opinion is the gold standard for the best surgical treatment of this CF complication. Paranasal mucocele is probably more frequent than estimated in the past and may be potentially underdiagnosed in CF infants; children with suggestive symptoms should always be evaluated by an ENT specialist well informed about CF complications, because of the possibility of severe sequels. Further long-term studies on wider paediatric CF patients are needed to establish the actual prevalence of this complication, the efficacy of medical therapy, to better define criteria and timing for surgery and to proper evaluate the incidence of recurrence. Finally, since paediatric paranasal mucocele occurs almost exclusively in CF patients, each child showing this ENT complain must be evaluated for CF. °Maurizio Di Cicco e-mail:maurimdc@yahoo.com RESULTS AND CONCLUSIONS We haven’t been faced with particular intraoperative complications during surgery (FESS) and it has been always possible to remove completely the neoformation, infected in three cases (pyomucocele) by Pseudomonas aeruginosa. All symptoms and particularly SaO2 decrease dramatically regressed after mass removal and no recurrency was observed after 24 months at follow up. Pediatric sinus pathology with this kind of clinical aspects occurs almost exclusively in CF patients and an early diagnosis with an ENT endoscopic evaluation and CT scan in our opinion is the gold standard for the best surgical treatment of this CF complication. Paranasal mucocele is probably more frequent than estimated in the past and may be potentially underdiagnosed in CF infants; children with suggestive symptoms should always be evaluated by an ENT specialist well informed about CF complications, because of the possibility of severe sequels. Further long-term studies on wider paediatric CF patients are needed to establish the actual prevalence of this complication, the efficacy of medical therapy, to better define criteria and timing for surgery and to proper evaluate the incidence of recurrence. Finally, since paediatric paranasal mucocele occurs almost exclusively in CF patients, each child showing this ENT complain must be evaluated for CF. °Maurizio Di Cicco e-mail:maurimdc@yahoo.com Università degli Studi di Milano ITALY NACFC Baltimora 2005