Massive nasal polyposis in pediatric cystic fibrosis: Report of an unusually severe case. (Original Article).

Abstract

Nasal polyposis is common among children with cystic fibrosis. We report the case of a 14-year-old girl with cystic fibrosis who experienced severe facial disfigurement as a result of massive polyposis. Her polyps were removed surgically, and she was referred for cosmetic surgery.

Introduction

Cystic fibrosis is the most common genetic disorder among the Caucasian population." (2) It is an autosomal-recessive condition that results in dysfunction of the exocrine glands. The lungs, pancreas, and the sinonasal cavity are frequently involved, and the range of clinical symptoms is wide. Sinonasal findings include chronic and recurrent sinusitis and nasal polyposis of varying degrees. In children, nasal polyposis is a common clinical manifestation of cystic fibrosis. A finding of pediatric nasal polyposis should lead the clinician's suspicion toward a possible diagnosis of cystic fibrosis even when the child manifests no other clinical symptoms of cystic fibrosis; polyposis as a clinical entity is uncommon in children. (3,4)

We report a case of unusually massive nasal polyposis in a girl with cystic fibrosis. Her facial cosmetic deformity was unusually pronounced as a result of a delay in diagnosis and treatment.

Case report

A 14-year-old girl came to the otolaryngology outpatient clinic at the Cerrahpasa School of Medicine in Istanbul, Turkey. She had been referred by a pediatric pneumonologist with a diagnosis of cystic fibrosis and nasal polyposis. Her medical history as reported by her parents was significant for the presence of nasal obstruction since she was 3 years old, a striking facial deformity that had begun at age 7, and recurrent pneumonia during the previous 2 years. Until recently, the family had not had access to medical care.

The patient's face was severely deformed, and polyps could be seen protruding from both nasal passages (figure 1). A plain x-ray demonstrated an extremely wide nasal aperture (figure 2). Nasal endoscopy was not possible because the nasal cavity was completely packed with polyps.

A complete transnasal polypectomy was performed. Following an uneventful recovery, the patient was placed on nasal steroids and referred to a plastic surgeon for facial cosmesis. On follow-up during the first postoperative year, she showed no evidence of a recurrence of nasal polyposis. The results of cosmetic surgery were fairly acceptable, and the dimensions of the interocular space and the base of the nose were normalized.

Discussion

This unusual case illustrates the severe degree to which nasal polyposis can disfigure a developing child. Signs of sinonasal involvement in cystic fibrosis include a broadening of the interocular space and nasal base. Nasal polyposis in children with and without cystic fibrosis has been extensively studied, and its prevalence has been estimated to be 20 to 25%. (5) In adults with cystic fibrosis, the prevalence of nasal polyposis is estimated to be 35 to 40%. (6)

The presence of nasal polyposis in a child is suggestive of cystic fibrosis; 55% of children with nasal polyposis have cystic fibrosis. (5) It is a matter of debate as to whether polyps in cystic fibrosis are secondary to chronic sinusitis or arise as a separate entity; conflicting reports support each view. In 1999, Jorissen et a1 (7) suggested that there is a genotype-phenotype correlation between paranasal sinus disease and nasal polyposis in cystic fibrosis, but an earlier study by De Gaudemar et al (2) failed to identify such a correlation. In 2000, Gysin et al failed to identify a genetic predisposition to massive polyposis in patients with cystic fibrosis. (8)

Regardless of its cause, nasal polyposis in children requires a detailed work-up. The decision to perform surgery is more difficult to make. The primary indication for surgery in children with cystic fibrosis is the extirpation of nasal obstruction.

Most studies of children with cystic fibrosis have found a high rate of recurrence of nasal polyps. (5) Among the possible explanations for the failure to prevent recurrences are the limited degree of accessibility to the pediatric sinuses, the extreme caution that surgeons exercise while attempting not to damage a developing organ during polypectomy, and the mucosal changes that are inherent in cystic fibrosis. In performing our polypectomy, we tried to ensure that we completely removed all of the accessible sinus mucosa.

Many patients with cystic fibrosis have aplastic or hypoplastic frontal and maxillary sinuses. (1) Our patient manifested complete agenesis of the frontal sinus, and we were unable to identify any anterior ethmoids cells. Perhaps because of the massive expansion of her nasal chamber, our patient's maxillary sinuses were also hypoplastic, and they were not surgically approachable.

Frequent postoperative follow-up is necessary to ensure control of recurrences. Topical nasal steroids have been reported to be effective in controlling recurrences. (4) They are safe to use in children, and they cause no major side effects during long-term use.

References

(1.) Krzeski A, Kapiszewska-Dzedzej D, Gorski NP, Jakubczyk I. Cystic fibrosis in rhinologic practice. Am J Rhinol 2002;16:155-60.

(2.) De Gaudemar I, Contencin P, Van den Abbeele T, et al. Is nasal polyposis in cystic fibrosis a direct manifestation of genetic mutation or a complication of chronic infection? Rhinology 1996;34:194-7.

(3.) Triglia JM, Nicollas R, Roman S, Dessi P. [Naso-sinusal polyposis in children. Mid-term results of sinusal surgery]. Ann Otolaryngol Chir Cervicofac 1997;114:267-71.

(4.) Assanasen P. Naclerio RM. Medical and surgical management of nasal polyps. Current Opinion in Otolaryngology--Head and Neck Surgery 2001;9:27-36.

(5.) Triglia JM, Nicollas R. Nasal and sinus polyposis in children. Laryngoscope 1997;107:963-6.

(6.) Hadfield PJ, Rowe-Jones JM, Mackay IS. The prevalence of nasal polyps in adults with cystic fibrosis, Clin Otolaryngol 2000;25:19-22.

(7.) Jorissen MB, De Boeck K, Cuppens H. Genotype-phenotype correlations for the paranasal sinuses in cystic fibrosis. Am J Respir Crit Care Med 1999;159(5 Pt 1):1412-6.

(8.) Gysin C, Alothman GA, Papsin BC. Sinonasal disease in cystic fibrosis: Clinical characteristics, diagnosis, and management. Pediatr Pulmonol 2000;30:481-9.

From the Department of Otolaryngology-Head and Neck Surgery, Cerrahpasa School of Medicine, Istanbul University, Istanbul, Turkey.

Reprint requests: Dogan Senocak, MD, 1/7 BMPasa Sok. Camlik, Etiler, Istanbul, Turkey. Phone: [phone]; fax: [phone]; email: [e-mail]