|Year : 2015 | Volume
| Issue : 1 | Page : 75-77
Bilateral anotia, congenital heart disease, and facial paralysis: Unusual triad of pearl syndrome
Nehal Patel, Rashmi Thanvi, Bhavesh Prajapati, Paresh Sathvara
Department of Paediatrics, GMERS Medical College, Sola, Ahmedabad, Gujarat, India
|Date of Web Publication||10-Mar-2015|
Dr. Nehal Patel
Department of Paediatrics, GMERS Medical College, Near Gujarat High Court, S.G. Highway, Sola, Ahmedabad - 380 060, Gujarat
Source of Support: None, Conflict of Interest: None
Bilateral anotia or microtia is known to be associated with multiple congenital malformations. It may occur due to the teratogenic effect of maternal ingestion of thalidomide and retinoic acid or spontaneously. We report a case of an infant with congenital bilateral anotia and left facial motor weakness presenting with persistent failure to thrive due to recurrent respiratory tract infection.
Keywords: Absent external ears, Congenital heart disease, Facial paralysis
|How to cite this article:|
Patel N, Thanvi R, Prajapati B, Sathvara P. Bilateral anotia, congenital heart disease, and facial paralysis: Unusual triad of pearl syndrome. Indian J Otol 2015;21:75-7
|How to cite this URL:|
Patel N, Thanvi R, Prajapati B, Sathvara P. Bilateral anotia, congenital heart disease, and facial paralysis: Unusual triad of pearl syndrome. Indian J Otol [serial online] 2015 [cited 2019 Dec 10];21:75-7. Available from: http://www.indianjotol.org/text.asp?2015/21/1/75/152876
| Introduction|| |
Anotia or microtia, defined as absent or miniature external ears, is known to be associated with various other congenital malformations. The most commonly associated congenital anomalies are renal anomalies or short stature-small patella syndrome. Thalidomide ingestion during pregnancy is described to cause congenital heart disease, with bilateral or unilateral anotia and facial paralysis in new born. And these defects can occur with or without typical limb deformities. , There are some anecdotal reports of similar triad of congenital malformations without exposure to thalidomide. ,
| Case Report|| |
A 3-month-old malnourished boy presented to our pediatric emergency department with acute respiratory distress. He had persistent failure to thrive due to intermittent respiratory tract infection. He was born of a nonconsanguineous marriage of an Indian couple at term with a birth weight of 2.5 kg. He was the only and first child of the parents. He weighed 3.180 kg (below 3 rd centile) on admission. His head circumference was 38.5 cm and his length was 62 cm. Child was fed on breast milk and diluted cow's milk. Patient was irritable and had tachycardia, tachypnea and low normal systolic blood pressure. Patient was started on nasal oxygen, intravenous ionotrops, bronchodilators, diuretic, and antibiotics. His general examination was conspicuous by completely absent left external ear and a tiny tissue tag replacing the right external ear. The bilateral anotia was associated with blindly ending external auditory canal on either side [Figure 1]a and b. The right facial motor weakness manifested with asymmetric crying face and was characterized by absence of forehead wrinkles, inability to close the left eye and right lower lip being pulled down while crying [Figure 2]a and b. While right eye closure and nasolabial fold were normal. His cardiac examination showed soft early systolic murmur. Two-dimensional echocardiography with color Doppler study confirmed a moderate size nonrestrictive perimembranous ventricular septal defect with moderate pulmonary arterial hypertension. The couple denied any significant illness during pregnancy or intake of teratogenic substance like retinoic acid and thalidomide. The child did not have any other malformation on a detailed evaluation. Hematology, biochemistry, and radiology imaging including chest X-ray and computed tomography (CT) brain did not reveal any evidence of additional congenital malformations. His chromosomal study from blood was normal. His parents were normal on clinical examination. His CT temporal bone [Figure 3] and [Figure 4] showed bilateral complete external canal atresia with normal bilateral middle ear cavity volume and opacified mastoid cells (congenital cholesteatoma). Dysmorphic tympanic attachment of malleus and normal malleo-incus joint was seen bilaterally. There was a long process of the incus with a nonvisualization of stapes and oval window on the right-side while left side was normal. On the left side, internal auditory canal was hypoplastic with smaller size of facial canal. There was an aberrant course of the facial nerve, which was anteriorly displaced and lateral to the styloid process on both the sides. After 3 days of Intensive Care Unit care with broad spectrum antibiotics and decongestive treatment, patient was managed in ward before discharged on 14 th day.
|Figure 3: Temporal bone CT scan with 3D reconstruction image showing left (a) and right (b) ear anatomy|
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|Figure 4: Temporal bone CT scan showing bilateral, left (a) and right (b) cholestatoma and the auditory canal anatomy|
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| Discussion|| |
Microtia-anotia means deformed or absent pinna with an atretic ear canal. Isolated microtia is usually associated with conductive hearing loss. It is also associated with atresia of external auditory meatus. The inheritance could be autosomal dominant or multifactorial. Some of the syndromic associations  include congenital infections such as rubella, trisomy, retinoic acid embryopathy, otomandibulofacial dysostosis, Meir-Gorlin syndrome, thalidomide embryopathy, fetal alcohol syndrome, diabetic embryopathy/holoprosencephaly, etc.
The facial paralysis secondary to congenital absence of the entire right facial nerve was confirmed by postmortem examination in the patient reported by Matthies.  However, our patient was having facial nerve bilaterally albeit with aberrant course as proved by the CT temporal bone. Similar triad of congenital malformation comprising anotia, facial paralysis, and congenital heart disease was described by Pearl in two girls without any obvious etiology.  One girl had right-sided facial paralysis and the absent pinna with blind external auditory canal on the right-side. The other girl had similar anomalies on the left side. Both had ventricular septal defects and valvular pulmonary stenosis. The second child also had cleft palate, torticollis, and scoliosis. Owing to uncommon incidence and association of this malformation, this syndromic association of congenital malformations is not well characterized in the literature.
Cardiofacial syndrome is a well-known clinical entity with asymmetric crying facies giving a clue to the underlying abnormalities like congenital heart disease, however, external ear anomalies are not described as a syndrome. The other associated abnormalities include those of skeletal (costovertebral, radius, thumb), genitourinary, gastrointestinal tract, cleft lip/plate, respiratory and central nervous system.  Deletion of 22q11 is occasionally noted in some of these cases, but no such deletion was observed in our subject. Lin et al. found auricular dysplasia or hypoplasia in 16 of 50 cases with congenital hypoplasia of depressor anguli oris muscle.  Findings in our patient differs from the cardiofacial syndrome (asymmetric crying facies syndrome) reported by Cayler [ 8] as well. His patients had congenital heart disease associated with unilateral weakness of only the lower portion of the face.
While similar triad of left facial paralysis, bilateral anotia, and cardiac disease, is presented by Pearl, the congenital deformity of external ears in the present case is more extensive.  The triad of anotia, facial paralysis, and congenital heart disease has been reported in association with the teratogenic effect of thalidomide and retinoic acid or as a possible variant of Goldenhar syndrome. ,, However, etiopathogenesis of this uncommon association of congenital malformations is still speculative, in this case. However, these associations were not observed in the present case. The absence of familial occurrence militates against a genetic explanation. Lenz  found that thalidomide ingestion between days 34 and 38 after the last menstrual period was usually associated with anotia or gross abnormalities of the ear and with paralysis of the third, fourth, sixth, and seventh cranial nerves. At this stage of gestation disturbance of a common pathway in the development of the facial nerve, the hyoid arch (from which the ear develops), and the cardiac primordial, which are in close anatomic proximity to each other may lead to this triad of anomaly.
| Conclusion|| |
As anotia is apparent at birth, a search for subtle facial paralysis and evidence of occult congenital heart disease should be sought for the earlier intervention.
| Acknowledgment|| |
We are grateful to Dr. Jayesh Sheth (FRIGE HOUSE, Institute of human genetics and genetic center) for performing chromosomal analysis of our patient.
| References|| |
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]