|Year : 2007 | Volume
| Issue : 1 | Page : 46-48
Aglossia: A case report
Prashant Kumar, KK Chaubey
Department of Periodontology, Patna Dental College and Hospital, Patna, India
403, Shiv Indralaya Apartment, 138, North Anand Puri, West Boring Canal Road, Patna
Source of Support: None, Conflict of Interest: None
| Abstract|| |
A female child of 4 years with congenital absence of tongue has been described. This anomaly is usually associated with other congenital defects particularly limb and other cranio-facial defects. But in this case, the child enjoys the normal life, the unusual absence of tongue; she used to go to school play around with her friends and had a comparable I.Q.
Keywords: Aglossia, congenital defects, tongue
|How to cite this article:|
Kumar P, Chaubey K K. Aglossia: A case report. J Indian Soc Pedod Prev Dent 2007;25:46-8
| Introduction|| |
The development of jaws and alignment of teeth are also associated with the development of tongue. The muscular pressure contributes in development and shape of jaws and establishment of occlusion of teeth.
The structural changes and functional abnormalities help us in diagnosing the different local and systemic conditions. Tongue anomalies like aglossia, hypoglossia, and macroglossia have been associated with jaw deformities. 
This is a rare case of aglossia without any other associated congenital malformation and is presented in animal species also. The highly co-ordinated muscular activity of tongue contributes to suckling, licking, swallowing, phonation, collecting liquid and solid food and manipulating them during chewing. The general and special sensory nerve supply help in assessment of taste, touch, pain, temperature, and pressure. Its muscular force contributes to obstruction free respiration. 
Different inherited, congenital, and developmental anomalies of tongue have been reported. Some are of minor clinical significance like ankyloglossia, fissured or scrotal tongue, and lingual thyroids. Some are of major severity and cause discomfort to person and affect their normal living pattern. Hypoglossia or microglossia is one of the rare congenital anomalies manifested by the presence of a small or rudimentary tongue. Aglossia, the complete absence of tongue since birth, has also been reported in literature. 
These tongue anomalies are frequently found in persons who have other congenital or developmental defects constituting different syndromes, but isolated tongue anomaly without any other systemic deficiency has also been reported. 
Anatomy et al . had presented the first publication of this rare malformation. Arthur Novel analyzed different 35 cases and found that this anomaly was associated almost always to malformations in the extremities, specially in feet and hands. Lack of lingual muscular stimulus affected the development of jaws and malocclusion of teeth was reported. As expected, the language and swallowing were also below normal, but not so severely affected. 
Khalil et al . have reported a case of 30 year old man with aglossia.  The entire tongue was absent. The development of maxilla and mandible were affected. However the patient was able to cope with the oral functions with some difficulty.
Describing the association between hypoglossia and other syndromes Preis et al . reported a 3-year-old girl with hypoglossia, anodontia, epidermoid on the right eye, VI th and VII th nerve palsy, left hypodactyly, and ventricular septal defect. 
Reporting hypoglossia as a rare congenital malformation associated with other deformities, Amor et al . have described a female infant with congenital hypoglossia, micrognathia and situs inversus. 
Kantapura et al . corelated thyroid dysfunction in a patient with aglossia, reporting a Thai girl who had aglossia, micrognathia, microsomia, collapse of mandibular arch with congenital absence of mandibular incisors, persistence of buccopharyngeal membrane, microcephaly and mild developmental delay. Thyroid function tests indicated hypothyroidism. 
Describing the difficulties at the induction of general anesthesia in a neonate, Mandai et al. have reported a case of aglossia-adactylia syndrome who also had ileojejunal atresia. The two-day-old neonate was operated for the repair of intestinal atresia and general anesthesia was successfully managed. The aglossia, cleft palate, and micrognathia associated with this syndrome produced additional difficulties in induction of general anesthesia, maintenance of difficult airway, and prevention of aspiration during perioperative period. 
Grippaudo et al . presented a patient with oromandibular malformations associated with major defects in upper and lower limbs. There was aglossia associated with an intra-oral band. 
Higashi et al . reported a girl with aglossia and persistent anterior buccopharyngeal membrane. Other anomalies observed on the patient were esophageal atresia, hypoplastic epiglottis, ptosis of left eye-lid and conductive deafness, which was probably an additional symptom of this syndrome group. 
| Case Report|| |
A 4 years old girl child with congenital absence of tongue has been described. This anomaly is usually associated with other congenital defects, particularly limb and other cranio-facial defects. However an isolated case of aglossia without any other associated congenital malformation has been reported and presented here. The tongue is a vital organ not only for humans but for animals also. It serves various functions. Its absence since birth is rare surprising and beyond our imagination.
Complete absence of tongue (aglossia) or a rudimentary tongue (hypoglossia) has been described in literature. This condition is usually associated with other congenital defects, but isolated lingual defects have also been reported. The capacity to suck, swallow masticate, and speak without the tongue is amazing to observe and also the ability to cope with her oral functions with minimal obstruction.
A 4 year old girl was brought to the Dental Outdoor Patient Department at Patna Dental College and Hospital by her mother in April 2005. The complaint of her mother was that she had no tongue since birth.
The external physical appearance of the girl was quite normal. There was no physical abnormality. The physical examination could not detect any abnormality except the missing tongue.
Detailed intra-oral examination revealed the hollow space, which would have been occupied by the tongue [Figure - 1]. There were raised folds of mucous membrane containing salivary glands on the inner aspect of mandible on both sides. There appeared an opening leading to the pharynx but it appeared constricted which could be due to the partial remnant of buccopharyngeal membrane.
The dental examination revealed mild crowding in lower anterior region. All the deciduous teeth had erupted and were normal shape and size. The upper right central and lateral incisors were carious. The development of maxilla and mandible was normal. Mentally, no deficiency was observed and her behavior was comparable with her age.
History was taken to judge her efficiency in relation with the functions of the tongue. Surprisingly, as stated by her mother, she could manage to chew and swallow food efficiently. Child was offered food to judge the ability to feel the taste.
Her speech was slurred but could be understood. The child could pronounce 't', 'd', 's' and other lingual consonants. Photographs were taken. Videography was done to record the sound and lip movements. History was taken for any familial occurrence of such case, but no positive findings could be elicited.
The child was advised for routine pathological investigations and asked for detailed check up at Ear-Nose-Throat (ENT) patient departments. The reports of the investigations were insignificant. The ENT department confirmed the absence of tongue.
| Discussion|| |
Aglossia and hypoglossia are rare and sporadic congenital malformations. The anomaly, as reported, may occur as an isolated disorder or in association with other congenital deformities, particularly limb defects. The review of literature shows aglossia associated with other cranio-facial anomalies like microstomia, micrognathia, partial or complete anodontia, cleft palate, eye-lid defects, facial asymmetry, and even cranial nerve palsies. The limb defects are represented by hypoplasia at various levels. All the four limbs may be involved. The involvement may vary from the absence of distal phalanx to total adactyly or partial absence of limb, with or without syndactyly. ,, Intelligence and stature are generally normal, but cases of mental retardation have also been reported. , Some cases of hypoglossia have been reported to be associated with situs inversus. 
The different combinations and groups of the anomalies have been listed under different syndromes like Goldenhar syndrome, Moebius syndrome, Aglossia adactylia syndrome, Hanhart syndrome, Glossopalatine ankylosis syndrome, Limb deficiency- spleno gonadal fusion syndrome, and Charlie M. syndrome. There have been variations in anomalies and frequency of overlapping features. ,
In the present case report, the female child had aglossia with no other significant sign and symptoms except mild crowding in lower anterior teeth. The development of maxilla and mandible was normal with no facial asymmetry.
An isolated cases of aglossia have been reported in the literature. , The finding of a constricted opening surrounded by thin membranous structure between oral cavity and pharynx resembled the persistent buccopharyngeal membrane and is comparable with such finding reported by Higashi and Edo. 
The tongue with its highly co-ordinated muscular activity helps in sucking, swallowing and manipulating food during chewing. The history from her mother and the trial with food in the clinic revealed that she had no marked difficulty in such activities. The child was able to manipulate the food and this reflected the adaptive capacity of human beings.
Proper pronunciation, particularly that of lingual consonants is dependent upon the movement of tongue. The speech of the girl was affected. It was slurred but understandable. She could manage to pronounce with some difficulty. This reflected obviously the role of tongue in proper pronunciation of words.
The perception of taste was surprising. Taste buds are located in different lingual papillae. So, in case of aglossia, the perception fo taste, was unexplainable. There could be the possibility of some lingual mass in the form of rudimentary tongue or buried in adjacent structures which could not be detected clinically. No attempt was made to detect the taste buds histologically because of practical unfeasibility.
The etiology of such anomalies is debatable. About 30 cases of Hanhart syndrome have been reported in the literature between 1932 and 1991. A few of them had intra- familial recurrences. This led to a hypothesis of mutation of an autosomal recessive gene. This genetic hypothesis was denied in 1973 and is now replaced by the hypothesis of vascular disruption around the fourth embryonic week. The abnormalities probably are the disruptive consequences of hemorrhagic lesions during fetal development. Preis et al . have described that in vivo and pathological studies as well as animal models supported this theory. Chorionic villous sampling (CVS), when performed before 10 weeks of amenorrhoea, has been associated with such disorder. This gives further support to the disruptive vascular hypothesis. This confirmed association between early chorionic villus sampling and such anomalies has discouraged early CVS.  In this case the mother did not confirm such test.
A 4 year old female child with congenital absence of tongue has been described. This anomaly is usually associated with other congenital defects, particularly limb and other cranio-facial defects. An isolated case of aglossia without any other associated congenital malformation has been reported and presented.
| References|| |
|1.||Lynch MA, et al . Burkits oral medicine diagnosis and treatment: 9 th ed. International Student Edition. Lippincott-Raven Publishers: Philadelphia, New York; 2000. p. 240-98. |
|2.||Shafer WG, Hine MK, Levy BM. A textbook of oral pathology - 4 th ed. Saunder: Elsevier; 2003. p. 24. |
|3.||Anatomy G, Williams PL, Warwick R. 30 th ed. Churchill Living Stone: Edinburgh London, Melbourne and New York; 1980. p. 1302-8. |
|4.||Khalil KC, Dayal PK, Gopa Kumar R, Prashanth S. Aglossia: A case report. Quintessence Int 1995;26:359-60. |
|5.||Preis S, Majewski F, Hantschmann R, Schumacher H, Lenard HG. Goldenhar, Moebius and hypoglossia-hypodactyly anomalies in a patient: Syndrome or association? Eur J Pediatr 1996;155:385-9. [PUBMED] [FULLTEXT]|
|6.||Amor DJ, Craig JE. Situs inversus totalis and congenital hypoglossia. Clin Dysmorphol 2001;10:47-50. [PUBMED] [FULLTEXT]|
|7.||Kantaputra P, Tanpaiboon P. Thyroid dysfunction in a patient with aglossia. Am J Med Genet A 2003;122:274-7. [PUBMED] [FULLTEXT]|
|8.||Mandai H, Kinouchi K. Perioperative management of a neonate with aglossia-adactylia syndrome. Mausi 2001;50:773-5. |
|9.||Grippaudo FR, Kennedy DC. Oromandiabular limb hypogenesis syndrome: A case of aglossia with an intra oral band. Br J Plast Surg 1998;51:480-3. [PUBMED] [FULLTEXT]|
|10.||Higashi K, Edo M. Conductive deafness in aglossia. J Laryngol Otal 1996;110:1057-9. [PUBMED] |
|11.||Walker PJ, Edwards MJ, Petroff V, Wilson I, Temberley AD, Seabrook J. Agnathia (severe microganthia), aglossia and choanal atresia in an infant. J Paediatr Child Health 1995;31:358-61. |
|12.||Julius A. Klausstiftung Furvererbungsetng Sozialanthropologie and Rassenhygiene. Zurich 1950;25:531-44. |
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