Journal of Cranio-Maxillo-Facial Surgery (2010) 38, 248e250

Crown Copyright � 2009 Published by European Association for Cranio-Maxillo-Facial Surgery. All rights reserved

doi:10.1016/j.jcms.2009.09.006, available online at http://www.sciencedirect.com

Congenital bilateral parotid gland agenesis in Klinefelter syndrome

Yavuz Fuat YILMAZ, MD1, Ali TITIZ, MD1, Nuket YURUR-KUTLAY, MD2, Muge OZCAN, MD1,

Adnan UNAL, MD1

1Ankara Numune Teaching and Research Hospital, First ENT Clinic, Ankara, Turkey; 2Ankara UniversityFaculty of Medicine, Department of Medical Genetic, Turkey

SUMMARY. Bilateral parotid gland agenesis is a rare clinical entity and it’s an etiopathogenesis remains obscure.The literature contains no reports of the co-existence of bilateral parotid gland agenesis and Klinefelter syn-drome. The condition is usually asymptomatic and causes asymmetry in the head and neck areas. Its diagnosisis generally made in the light of accompanying developmental anomalies. Herein we report the clinical andradiological findings of a 17-year-old male with Klinefelter syndrome accompanied by unilateral peripheralfacial nerve paralysis and isolated congenital bilateral parotid gland agenesis. Crown Copyright � 2009Published by European Association for Cranio-Maxillo-Facial Surgery. All rights reserved

Keywords: Klinefelter syndrome, parotid gland, agenesis, facial nerve palsy

INTRODUCTION

Parotid gland agenesis is a rare congenital clinical entity,which is congenital and can be unilateral or bilateral(Salvinelli et al., 2004; Ferguson and Ponnambalam,2005). It may occur together with the absence of othermajor salivary glands or developmental anomalies (Wie-senfeld et al., 1983; Whyte and Hayward, 1989; Milunskyet al., 1990; Bhide and Warshawsky, 1998; Gomez et al.,1998), including genetic diseases such as Levy-Hollisterand Down syndromes (Milunsky et al., 1990; Gomezet al., 1998; Ferguson and Ponnambalam, 2005). Basedon clinical and laboratory evaluations, the patient wepresent was found to have both bilateral parotid glandagenesis and Klinefelter syndrome, a gender-chromo-some anomaly. The clinical and radiological characteris-tics of the patient are presented along with a briefliterature review.

CASE

A 17-year-old male presented complaining of occasionaldischarge from a small opening anterior to his right ear.The medical history revealed that a 5e10 mm swellingcommerced just after his birth was drained when hewas 8-months old. Following this surgical procedure, itwas noticed that the patient could not close his righteye. After which the developed right sided peripheral fa-cial paralysis. The patient did not have any treatment butwas just followed up. There was an asymmetry betweenthe two parotid regions, a right peripheral facial paraly-sis, and a cutaneus fistula in the mid-right parotid region(Fig. 1). Ultrasonography revealed the absence of bilat-eral parotid glands, the submandibular glands were nor-mal, and a fistula was seen under the right ear.A contrast study that the fistula extended towards the

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right submandibular gland. Magnetic resonance imagingshowed the same findings as those determined with ultra-sonography (Fig. 2). The panoramic mandibular radio-graph was normal. The right facial nerve was found tohave severe axonal degeneration on Electromyography.Tc-99 m scintigraphy, however, showed that neither ofthe parotid glands could be imaged, whilst the subman-dibular glands demonstrated normal activity (Fig. 3).

The right side fistula was completely removed undergeneral anesthesia. Histopathological evaluation of thewhole specimen, indicated traumatic neuroma. Conven-tional cytogenetic evaluation showed that the patienthad a 47, XXY chromosome set through GTG banding,indicative of Klinefelter syndrome (Fig. 4).

DISCUSSION

The diagnosis of parotid gland agenesis, a congenitalcondition with unilateral or bilateral involvement, is chal-lenging, especially in asymptomatic patients. It has beenemphasized that in asymptomatic patients the presenceof an accessory parotid gland should be investigated. In1e7% of patients with an accessory parotid gland, pa-rotid neoplasms have been reported (Goldenberg et al.,2000; Popovski et al., 2008). Dental irregularities associ-ated with xerostomia are striking (Ferguson and Pon-nambalam, 2005), particularly among symptomaticpatients in the absence of other major salivary glands.The presented patient (who was asymptomatic) devel-oped facial paralysis after a surgical intervention in hisparotid region when he was an infant. This clearly dem-onstrates the importance of being extremely careful withthe facial nerve during surgical interventions in this area.

Salivary gland agenesis was first described by Ramseyas a pleotropic and autosomal dominant disease(Salvinelli et al., 2004). It is more common in males

Fig. 1 e Asymmetry is seen in both parotid region (black arrows).

Fig. 2 e Magnetic resonance images reveal the absence of both parotidglands (white arrows).

Fig. 3 e Only the submandibular glands show normal activity on Tc-99scintigraphy of the salivary glands.

Congenital bilateral parotid gland agenesis 249

(Daniel et al., 2003). In a literature review, the co-exis-tence of unilateral or bilateral parotid gland agenesis,particularly in association with Levy-Hollister syndrome,also known as lacrimo-auriculo-dento digital syndrome,was noteworthy.1,10 The literature contains only 1 caseof bilateral parotid agenesis accompanied by Down syn-drome (Ferguson and Ponnambalam, 2005), in whichpoor oral hygiene and dental structure due to xerostomiawere emphasized.

Clinical and radiological investigations revealed iso-lated congenital bilateral parotid agenesis in this patient(Fig. 2). No accessory parotid glands were detected(Fig. 3). Since the etiopathology of this clinical conditionis not clearly understood, a genetic evaluation should beperformed to rule out its co-existence with various devel-opmental disorders. The results showed that the patienthad a 47, XXY chromosome set, as in Klinefelter syn-

drome. This karyotype is the most common chromosomeanomaly encountered in Klinefelter syndrome. The diag-nosis of the syndrome before adolescence is extremelydifficult, because children lack somatic characteristics.After adolescence, the most common clinical characteris-tics are a tall and slender stature, and eunouchoid struc-ture. Adolescent growth may be retarded. In mostcases, secondary male gender characteristics, such ashair growth on the pubic area, axilla, and face, occur toa lesser degree than in normal male adolescents. Insome cases, however, normal masculinization may be ob-served. In nearly 50% of cases, gynecomastia may de-velop. There may be cardiovascular disorders.Azospermia and infertility are present. Mental develop-ment is usually normal, although a small number of casesmay present with mild mental retardation. Psychologicalproblems are usually more pronounced. Treatment in-volves long-term testosterone and psychological support(Wattendorf and Muenke, 2005). Our patient was

Fig. 4 e Cytogenetic evaluation.

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provided with genetic counselling and hormone therapywas recommended.

CONCLUSION

In conclusion, it should be considered that congenitalanomalies such as very rare bilateral parotid gland agene-sis may frequently occur together with congenital or var-ious developmental anomalies. It may be wise to addroutine genetic evaluation to the clinical and laboratory in-vestigations of the systemic conditions in those patients.

References

Bhide VN, Warshawsky RJ: Agenesis of the parotid gland: associationwith ipsilateral accessory parotid tissue. AJR Am J Roentgenol170: 1670e1671, 1998

Daniel SJ, Blaser S, Forte V: Unilateral agenesis of the parotidgland: an unusual entity. Int J Pediatr Otorhinolaryngol 67:395e397, 2003

Ferguson MM, Ponnambalam Y: Aplasia of the parotid gland in Downsyndrome. Br J Oral Maxillofac Surg 43: 113e117, 2005

Goldenberg D, Flax-Goldenberg R, Joachims HZ, et al: Misplaced parotidglands: bilateral agenesis of parotid glands associated with bilateralaccessory parotid tissue. J Laryngol Otol 114: 883e885, 2000

Gomez RS, Aguiar MJ, Ferreira AP, et al: Congenital absence ofparotid glands and lacrimal puncta. J Clin Pediatr Dent 22:247e248, 1998

Milunsky JM, Lee VW, Siegel BS, et al: Agenesis or hypoplasia ofmajor salivary and lacrimal glands. Am J Med Genet 37: 371e374,1990 (Letter to the Editor)

Popovski V, Bendetti A, Spasevska L: Surgical management ofaccecory parotid gland tumors. J Craniomaxillofac Surg 36(1): 138,2008

Salvinelli F, Marte C, D’Ascanio L, et al: Congenital aplasia ofthe parotid gland with omolateral cheek angioma: case reportand review of the literature. Acta Otolaryngol 124: 328e330,2004

Wattendorf DJ, Muenke M: Klinefelter syndrome. Am Fam Physician72: 2259e2262, 2005 (Review)

Whyte AM, Hayward MW: Agenesis of the salivary glands: a report oftwo cases. Br J Radiol 62: 1023e1026, 1989

Wiesenfeld D, Ferguson MM, Allan CJ, et al: Bilateral parotid glandaplasia. Br J Oral Surg 21: 175e178, 1983

Yavuz Fuat YILMAZ, MDAnkara Numune Teaching and Research HospitalFirst ENT ClinicFatih str. 178/10 KeciorenAnkaraTurkey

Tel.: +90 505 7647401E-mail: yfyilmaz@gmail.com

Paper received 19 December 2008Accepted 16 September 2009