The Journal of Laryngology and Otology June 1990, Vol. 104, pp. 494-496
Episodic macroglossia in Down's syndrome N. D. PADGHAM,* B. J. G. BINGHAM,* B. N. PuRDUEt (Dundee)
Abstract We report a unique case of recurrent gross enlargement of the tongue associated with lymphangiectasia and tongue protrusion in an adult male with Down's syndrome. There were three episodes of acute macroglossia with no clinically identifiable cause. Spontaneous resolution always occurred after five to six days. Histological examination of the tongue, at post mortem, revealed a primary lesion of the lingual lymphatics. The possible mechanisms of acute macroglossia and the surgical techniques which could have been used to reduce the tongue bulk are discussed.
Since the initial description there has been debate in the literature as to whether the typical tongue in Down's syndrome is normal or enlarged (Gupta, 1971; Ardran et al., 1972). Protrusion of the tongue beyond the lips, however, is an accepted feature in Down's syndrome; it is usually present in the newborn, tends to improve as the child grows and is occasionally present in adult life (Ardran et al., 1972). The rapid development of acute macroglossia is an unusual problem with the most common causes being angioneurotic oedema and trauma. We report a very unusual, possibly unique, case of recurrent gross macroglossia associated with lymphangiectasia and tongue protrusion in an adult male with Down's syndrome.
Introduction Dr John Langdon Haydon Down, in 1866 described the features of a group of congenital Mongolian idiots. One of the characteristic features of 'Mongolism' which Down identified was that of a long thickened and much roughened tongue.
Case report A mentally subnormal man, born in 1936, with trisomy 21 presented on three occasions (1982,1988 and 1989) to the ENT department with gross macroglossia. (Fig. 1). He lived in a hospital for the mentally subnormal and received oral chlorpromazine as medication for hyperactivity. The man was edentulous and at rest had a 1.5 cm protrusion of the tongue beyond the inferior alveolar margin. At the time of admission, there was no identifiable cause for the acute macroglossia which had developed within one to two
FIG.
1.
FIG.
2.
* Department of Otolaryngology, Nine wells Teaching Hospital, t Department of Forensic Medicine, University of Dundee. This case was presented at the Autumn meeting of the Scottish Otolaryngology Society held in Dundee 18 November 1988. Accepted for publication: 6 March 1990. 494
495
CLINICAL RECORDS
remarkable feature to the naked eye. Histologically, the tongue contained a larger than normal proportion of loose connective tissue within the deeper layers and the proportion of muscle was correspondingly reduced. The submucosa contained multiple slit like endothelial lined spaces. (Fig. 2). The appearances were those of lymphangiectasia. (Fig. 3). There was no evidence of abnormal infiltrates and the stains for amyloid were negative.
Discussion
FIG. 3.
hours. No clinical or haematological evidence of infection was found and there were no features of direct trauma to the tongue. The features of angioneurotic oedema were absent and the serum Cl esterase level was normal. His biochemical parameters, liver function tests and serum thyroxine were normal. There was no goitre and an isotope thyroid scan showed no abnormality. The immediate management included clinical and radiological assessment to confirm that there was no respiratory embarrassment. Hydration was maintained by nasogastric or intravenous routes, depending on which the patient would tolerate. Therapies used, unsuccessfully, to reduce the tongue size included massage, suspension and massage, and a three day course of topical and systemic steroids. The swelling of the tongue resolved spontaneously on all three occasions after five to six days, by which time the patient had not received specific treatment to resolve the macroglossia for at least 48 hours. One month after the last episode of macroglossia, the man developed bronchopneumonia which was resistant to therapy and after a further two months he died. The tongue, at its usual size, was obtained at post mortem and examined histologically.
Pathology
The tongue measured 13 cm from base to tip in the midline, being therefore exceptionally long. There was no other
The differential diagnoses in a case of persistent macroglossia would include lymphangioma, haemangioma, hypothyroidism, lingual thyroid, acromegaly, metabolic storage diseases, benign and malignant neoplastic lesions and amyloidosis. There was no evidence of these diseases in the patient we have presented. A comprehensive review of the causes of macroglossia is given by Rice and Carson (1985). Acute macroglossia is an unusual problem with the more common causes being angioneurotic oedema and trauma. The mechanism of the acute macroglossia in the case presented is difficult to explain. We suggest that the slight protrosion of the tongue allowed it to become compressed between the gum margins, leading to distension of the abnormal lymphatic spaces. The increasing mass of the tip of the tongue encouraged further protrusion and a dependent swelling resulted. This, we suspect, could not have occurred in the absence of abnormal potential space within the lymphatic channels which permitted the fluid to accumulate. When the dilated lymphatic spaces emptied resolution of the macroglossia occurred. Microscopy demonstrated the existence of a primary lesion of the lingual lymphatics which forms the basis of this unusual presentation. The features are those of a congenital malformation rather than of a neoplasm or of a defect secondary to lymphatic obstruction. The relationship of lymphangiectasia of the tongue to Down's syndrome is uncertain. It is possible that lymphangiectasia of the tongue is not unusual in the general population but it takes the occurrence in a patient with tongue protrusion to precipitate an episode of acute macroglossia. Equally the lymphangiectasia may be a feature of Down's syndrome and could even be the factor which explains the apparent macroglossia in certain cases of Down's syndrome. Consideration was given to operative reduction of the tongue to prevent a further episode of acute macroglossia but bronchopneumonia supervened prior to admission for this procedure. The procedure to reduce the tongue size which was being considered was a V-shaped wedge excision from the anterior two-thirds of the tongue with the apex of the V pointing towards the foramen caecum followed by reconstitution of the lingual tip with the sutures placed to reconstruct the median lingual groove. A number of operations have been described to reduce tongue bulk. An external approach at the level of the hyoid bone with identification of both the hypoglossal nerves and the lingual arteries can be a useful approach for a lingual lymphangioma (Dinerman and Myers, 1976). The entire tip of the tongue in a U-shape with the open end of the U facing posteriorly followed by a vertical repair of the raw surface has been described (Gupta,1971). The lateral borders of the tongue can be removed in slivers and this technique can be combined with the other operative procedures for reduction of the tongue bulk. The V wedge excision, however, has a number of advantages over these other techniques—no raw surfaces, no external incisions, reconstruction of the tongue into a normal shape, good post-operative tongue mobility and the retention of the sensitive lateral borders of the tongue with their taste buds.
496 References
Ardran, G. M., Harker, P., Kemp, F. H. (1972) Tongue size in Down's syndrome. Journal of Mental Deficiency Research, 16: 160-166. Dinerman, W. S., Myers, E. N. (1976) Lymphangiomatous macroglossia. Laryngoscope 86: 291-296. Down, J. L. H. (1866) Observations on an ethnic classification of idiots. London Hospital Clinical Lectures and Reports, 3: 259-262. Gupta, O. P. (1971) Congenital macroglossia. Archives of Otolaryngology, 93: 378-383.
N. D. PADGHAM, B.J.G. BINGHAM AND B. N. PURDUE
Rice, J. P., Carson, S. H. (1985) A case report of lingual lymphangioma presenting as recurrent massive tongue englargement. Clinical Pediatrics (Philadelphia), 24: 47-50. Address for correspondence: B. J. G. Bingham, Department of Otolaryngology, Nine wells Teaching Hospital, Ninewells Avenue, Dundee DD1 9SY.
Episodic macroglossia in Down's syndrome N. D. PADGHAM,* B. J. G. BINGHAM,* B. N. PuRDUEt (Dundee)
Abstract We report a unique case of recurrent gross enlargement of the tongue associated with lymphangiectasia and tongue protrusion in an adult male with Down's syndrome. There were three episodes of acute macroglossia with no clinically identifiable cause. Spontaneous resolution always occurred after five to six days. Histological examination of the tongue, at post mortem, revealed a primary lesion of the lingual lymphatics. The possible mechanisms of acute macroglossia and the surgical techniques which could have been used to reduce the tongue bulk are discussed.
Since the initial description there has been debate in the literature as to whether the typical tongue in Down's syndrome is normal or enlarged (Gupta, 1971; Ardran et al., 1972). Protrusion of the tongue beyond the lips, however, is an accepted feature in Down's syndrome; it is usually present in the newborn, tends to improve as the child grows and is occasionally present in adult life (Ardran et al., 1972). The rapid development of acute macroglossia is an unusual problem with the most common causes being angioneurotic oedema and trauma. We report a very unusual, possibly unique, case of recurrent gross macroglossia associated with lymphangiectasia and tongue protrusion in an adult male with Down's syndrome.
Introduction Dr John Langdon Haydon Down, in 1866 described the features of a group of congenital Mongolian idiots. One of the characteristic features of 'Mongolism' which Down identified was that of a long thickened and much roughened tongue.
Case report A mentally subnormal man, born in 1936, with trisomy 21 presented on three occasions (1982,1988 and 1989) to the ENT department with gross macroglossia. (Fig. 1). He lived in a hospital for the mentally subnormal and received oral chlorpromazine as medication for hyperactivity. The man was edentulous and at rest had a 1.5 cm protrusion of the tongue beyond the inferior alveolar margin. At the time of admission, there was no identifiable cause for the acute macroglossia which had developed within one to two
FIG.
1.
FIG.
2.
* Department of Otolaryngology, Nine wells Teaching Hospital, t Department of Forensic Medicine, University of Dundee. This case was presented at the Autumn meeting of the Scottish Otolaryngology Society held in Dundee 18 November 1988. Accepted for publication: 6 March 1990. 494
495
CLINICAL RECORDS
remarkable feature to the naked eye. Histologically, the tongue contained a larger than normal proportion of loose connective tissue within the deeper layers and the proportion of muscle was correspondingly reduced. The submucosa contained multiple slit like endothelial lined spaces. (Fig. 2). The appearances were those of lymphangiectasia. (Fig. 3). There was no evidence of abnormal infiltrates and the stains for amyloid were negative.
Discussion
FIG. 3.
hours. No clinical or haematological evidence of infection was found and there were no features of direct trauma to the tongue. The features of angioneurotic oedema were absent and the serum Cl esterase level was normal. His biochemical parameters, liver function tests and serum thyroxine were normal. There was no goitre and an isotope thyroid scan showed no abnormality. The immediate management included clinical and radiological assessment to confirm that there was no respiratory embarrassment. Hydration was maintained by nasogastric or intravenous routes, depending on which the patient would tolerate. Therapies used, unsuccessfully, to reduce the tongue size included massage, suspension and massage, and a three day course of topical and systemic steroids. The swelling of the tongue resolved spontaneously on all three occasions after five to six days, by which time the patient had not received specific treatment to resolve the macroglossia for at least 48 hours. One month after the last episode of macroglossia, the man developed bronchopneumonia which was resistant to therapy and after a further two months he died. The tongue, at its usual size, was obtained at post mortem and examined histologically.
Pathology
The tongue measured 13 cm from base to tip in the midline, being therefore exceptionally long. There was no other
The differential diagnoses in a case of persistent macroglossia would include lymphangioma, haemangioma, hypothyroidism, lingual thyroid, acromegaly, metabolic storage diseases, benign and malignant neoplastic lesions and amyloidosis. There was no evidence of these diseases in the patient we have presented. A comprehensive review of the causes of macroglossia is given by Rice and Carson (1985). Acute macroglossia is an unusual problem with the more common causes being angioneurotic oedema and trauma. The mechanism of the acute macroglossia in the case presented is difficult to explain. We suggest that the slight protrosion of the tongue allowed it to become compressed between the gum margins, leading to distension of the abnormal lymphatic spaces. The increasing mass of the tip of the tongue encouraged further protrusion and a dependent swelling resulted. This, we suspect, could not have occurred in the absence of abnormal potential space within the lymphatic channels which permitted the fluid to accumulate. When the dilated lymphatic spaces emptied resolution of the macroglossia occurred. Microscopy demonstrated the existence of a primary lesion of the lingual lymphatics which forms the basis of this unusual presentation. The features are those of a congenital malformation rather than of a neoplasm or of a defect secondary to lymphatic obstruction. The relationship of lymphangiectasia of the tongue to Down's syndrome is uncertain. It is possible that lymphangiectasia of the tongue is not unusual in the general population but it takes the occurrence in a patient with tongue protrusion to precipitate an episode of acute macroglossia. Equally the lymphangiectasia may be a feature of Down's syndrome and could even be the factor which explains the apparent macroglossia in certain cases of Down's syndrome. Consideration was given to operative reduction of the tongue to prevent a further episode of acute macroglossia but bronchopneumonia supervened prior to admission for this procedure. The procedure to reduce the tongue size which was being considered was a V-shaped wedge excision from the anterior two-thirds of the tongue with the apex of the V pointing towards the foramen caecum followed by reconstitution of the lingual tip with the sutures placed to reconstruct the median lingual groove. A number of operations have been described to reduce tongue bulk. An external approach at the level of the hyoid bone with identification of both the hypoglossal nerves and the lingual arteries can be a useful approach for a lingual lymphangioma (Dinerman and Myers, 1976). The entire tip of the tongue in a U-shape with the open end of the U facing posteriorly followed by a vertical repair of the raw surface has been described (Gupta,1971). The lateral borders of the tongue can be removed in slivers and this technique can be combined with the other operative procedures for reduction of the tongue bulk. The V wedge excision, however, has a number of advantages over these other techniques—no raw surfaces, no external incisions, reconstruction of the tongue into a normal shape, good post-operative tongue mobility and the retention of the sensitive lateral borders of the tongue with their taste buds.
496 References
Ardran, G. M., Harker, P., Kemp, F. H. (1972) Tongue size in Down's syndrome. Journal of Mental Deficiency Research, 16: 160-166. Dinerman, W. S., Myers, E. N. (1976) Lymphangiomatous macroglossia. Laryngoscope 86: 291-296. Down, J. L. H. (1866) Observations on an ethnic classification of idiots. London Hospital Clinical Lectures and Reports, 3: 259-262. Gupta, O. P. (1971) Congenital macroglossia. Archives of Otolaryngology, 93: 378-383.
N. D. PADGHAM, B.J.G. BINGHAM AND B. N. PURDUE
Rice, J. P., Carson, S. H. (1985) A case report of lingual lymphangioma presenting as recurrent massive tongue englargement. Clinical Pediatrics (Philadelphia), 24: 47-50. Address for correspondence: B. J. G. Bingham, Department of Otolaryngology, Nine wells Teaching Hospital, Ninewells Avenue, Dundee DD1 9SY.
