Keywords 

Congenital facial palsy, anotia

About the Authors

Geeta Gathwala, MD, DM (Neonatology) Sr. Prof. & Head, Jagjit Singh, MD Assistant Professor, Poonam Dalal, MD Assistant Professor, Departments of Pediatrics, Pt. B.D. SHARMA PGIMS, Rohtak, Haryana, India.

Corresponding Author

Dr. Jagjit Singh Flat No.15, Couple Hostel, Medical enclave Pt .B.D.Sharma PGIMSRohtak –124001(Haryana) INDIA

Introduction

Congenital facial palsy (CFP) is generally considered to be either developmental or acquired in origin. Developmental facial paralysis is associated with other anomalies including those of pinna and external auditory canal, ranging from mild defects to severe microtia and atresia1. Herein we report a rare case of congenital right facial paralysis associated with bilateral anotia and atresia of right external auditory canal.

Case report

A 6 month old male infant was admitted to the pediatric ward with lower respiratory tract infection. There was history of facial asymmetry and absent ears since birth. There was no history suggestive of intrauterine infection or drug intake during pregnancy. The baby was full term normal vaginal delivery. Physical examination showed bilateral anotia, preauricular tag was present bilaterally and right lower motor neuron type of facial palsy (fig 1,2,3) There was no other cranial nerve palsy and the rest of the examination including neurological examination was normal. MRI brain was normal. High Resolution CT temporal bone done to define the etiology of facial nerve palsy revealed absence of pinna, right auditory canal was not visualised and the middle ear ossicles were reported normal. Brainstem Evoked Response Audiometry (BERA) was normal.

Discussion

Congenital facial nerve palsy is an infrequent condition with a reported incidence of 2.1 per 1000 live births 2. In 78% of cases CFP is related to birth trauma. No such history was available in the index case. Other causes include, intrauterine posture, intrapartum compression, and familial and congenital aplasia of the nucleus; the last being most frequently reported for bilateral cases .There are a number of syndromes which encompass congenital facial palsy as part of their symptoms, including the cardiofacial, Moebius, Polands, and Goldenhaars syndrome 1,3. Some cases of CFP have been attributed to agenesis of the petrous portion of the temporal bone, with resulting agenesis of the facial and auditory nerves, the external ear, and the mastoid region 4.

Most commonly, development facial paralysis is associated with other anomalies. The most common site reported is the maxilla, including defects such as cleft palate, hypoplastic maxilla, and duplication of the palate. Others have demonstrated a propensity for anomalies of the pinna and external auditory canal, ranging from mild defects to severe microtia and atresia1. A striking association of grossly abnormal pinna, multiple defects and facial palsy has been reported in 9 to 15% of patients. The index case had bilateral anotia and right auditory canal atresia with right facial palsy.

Aural atresia occurs in approximately 1 in 20000 live births. Atresia and microtia are parts of several syndromes with inherited defects or acquired embryopathies owing to intrauterine infections (rubella, syphilis), ischemic injury (hemifacial microsomia) or toxin exposure (thalidomide, isotretinon). Embryonic insult, severe enough to cause aural atresia would also affect other organ systems. Aberration in the canalization process of external auditory canal can lead to stenosis, canal tortuosity, or fibrosis/ osseous obliteration. Since middle ear structure develops independently, the tympanic cavity and ossicles may be normal. Defects in the canalization process may also be associated with faulty formation of pinna5.In the index case right sides CFP was associated with anotia and right sided atresia. No other abnormalities were observed.

Several surgical techniques are employed for treatment of CFP. The ideal time for the intervention is controversial. Some clinicians advocate early (pre-school) surgery for the animation of children’s faces6,8 while others propose surgery not before adolescence7. Muscle transplantation for facial paralysis has been shown to be effective8. However, the possibilities of reconstructive surgery are limited. Traumatic facial palsy in neonates is associated with good prognosis. In contrast facial palsies as in the index case carry a poor functional outcome 9,10.

References

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