Search :     
Articles » Face and neck » Macroglossia

1992-01-17-20 Macroglossia © Haeusler www.thefetus.net/


Macroglossia

Martin C.H. Haeusler, MD, Hans M.H. Hofmann, MD, Alexander Haberlik, MD, Hanna Eyb, MD

Dept. of Obstetrics and Gynecology, Karl-Franzens University, Auenbruggerplatz 14, A - 8010 Graz, Austria

 

Synonyms: Tongue gigantism, enlarged or protruding tongue.

Definition: In children and adults: a resting tongue that protrudes beyond the teeth or alveolar ridge or mandible.

Prevalence: Depends on the underlying disorder (e.g., present in 97.5% of Beckwith-Wiedemann syndrome cases1: incidence 0.73:10,000 live births2, congenital hypothyroidism: incidence 2.5: 10,000 live births3).

Etiology: When isolated it is usually sporadic, except for two families in which an autosomal dominant transmission has been described. Otherwise, depends on the underlying disorder (see Table 1).

Pathogenesis: Depends on the underlying disorder. In this case, sonographic appearance at 27 weeks suggests development at mid-trimester or earlier. In cases of Beckwith-Wiedeman syndrome, it is part of the generalized visceromegaly probably secondary to fetal hyperinsulinism1 (although it is not present in diabetic fetopathy). This is mediated by elevated hPL levels in chronic hypoglycemia due to hyperplasia of Langerhans" islet cells4 or by raised growth factors, especially in familial cases where cytogenetic abnormalities involving bands p13-15 of chromosome 11 can be found (p15-pter) 5,6,7. Recently uniparental paternal disomy has been shown to be the underlying disorder in some cases of Beckwith-Wiedemann syndrome using 11p15.5 markers8- a region that also carries the code for insulin and insulin-like growth hormones9.

Diagnosis: Protrusion of the tip of the tongue past an imaginary line drawn on a sagittal scanning plane between the mandible and maxilla (fig 3) or past the lower lip on an axial scan.

Associated anomalies: Depends on the underlying disorder. So far only diagnosed by prenatal ultrasound in cases of Beckwith-Wiedemann syndrome, other features of which include hydramnios (due to impaired fetal swallowing and possibly to increased urine production10), omphalocele, nephromegaly, gigantism (sometimes hemihypertrophy), hepatomegaly, genital anomalies 4,10-12, cystic adrenal glands4, heart defects1. In the absence of an omphalocele, a careful search for markers of trisomy 21 is indicated.

Differential diagnosis: See Table 1. Sometimes a biopsy of the tongue is necessary to confirm diagnosis in childhood13. If macroglossia is associated with an omphalocele, this is diagnostic of Beckwith-Wiedemann syndrome.

Prognosis: Depends on degree and underlying disorder.

Recurrence risk: Function of the underlying disorder.

Management: Function of the underlying disorder.

MESH: Macroglossia-diagnosis, Beckwith-Wiedemann syndrome, omphalocele. BDE 0618 MIM 153630 ICD9 750.1 CDC 750.120

Address correspondence to Martin C. H. Haeusler, MD, Dept. of Obstetrics and Gynecology, Karl-Franzens University, Auenbruggerplatz 14, A - 8010 Graz, Austria, Ph: 43-316-385-2201, Fax 43-316-385-3061 ¶ From the Department of Pediatric Surgery

Introduction

Macroglossia poses a difficult differential diagnosis. It can be an isolated finding without any pathological significance or can be associated with various syndromes or diseases, which will be summarized in this article. Macroglossia may develop in adults, children or fetuses depending on the etiology. The prenatal diagnosis of macroglossia has been made so far in four cases of Beckwith-Wiedemann syndrome at 28 to 39 weeks gestation4,10,14,15. We present a fifth case diagnosed at 27 weeks and discuss the definition of macroglossia and the importance of this finding which, in combination with an omphalocele, is diagnostic of Beckwith-Wiedemann syndrome.

Case report

A 34-year-old G5P0 had four previous pregnancies, three of which ended in spontaneous abortions at 12, 15, 12 weeks gestation. The other pregnancy resulted in an intrauterine death at 26 weeks, and the fetus showed an omphalocele but no other evidence of the Beckwith-Wiedemann syndrome.

She was referred in this pregnancy at 21 weeks gestation because of a fetal abdominal wall defect. The ultrasound examination51 showed a singleton fetus with an omphalocele (26 mm in diameter). The biometry was appropriate for gestational age, the amount of amniotic fluid was normal, and no other malformations were evident. Amniocentesis showed a normal female karyotype (46,XX). Amniotic fluid levels of alpha-fetoprotein and acetylcholinesterase were normal. At 25 weeks gestation the mother was admitted because of preeclampsia (Blood pressure: 140/90, increasing proteinuria from 4.7 g/l to 13.3 g/l, raised liver enzymes–gGT 36 U/l, LDH 227 U/l–, uric acid 6.6 mg/100ml).

A repeat ultrasound at 27 weeks showed polyhydramnios; the biparietal diameter, head circumference and femur were just below the 90th percentile and the diameter of the omphalocele was 38mm (fig.1).

Fig. 1: Midsagittal scan showing omphalocele and hydramnios at 27 weeks gestation. BL= fetal urinary bladder; x.....x indicates size of the abdominal wall defect.

An enlarged rigid tongue was seen continuously protruding from the mouth during a 20 minute scan and remained so on subsequent scans until delivery (fig. 2).

 

Fig. 2: Left: Midsagittal scan of fetal head at 27 weeks gestation. Arrow indicates macroglossia. Right: Profile of same neonate"s face 4 weeks after birth. Note protruding tongue (arrow).

The diagnosis of Beckwith-Wiedemann syndrome was made based on the combination of macroglossia and an omphalocele.

At 31 weeks a cesarean section was performed because of fetal distress after premature rupture of the membranes. A baby girl was delivered with Apgar scores of 4 and 5 (1 and 5 minutes). She weighed 1540g (50th percentile16), and was 380mm long (3rd percentile17). Cord blood arterial and venous pH were 7.02 and 7.06, respectively; blood glucose was 46mg/100ml. The neonate was infused with 10% glucose. One hour after delivery, a pediatric surgeon was able to reduce the contents of the omphalocele into the abdominal cavity. Ultrasonography of the kidneys was normal.

The postnatal course was complicated by respiratory distress syndrome, intraventricular hemorrhage grade 1-2, and bowel perforation after meconium ileus, necessitating partial resection of the ileum on the 10th day. The infant was extubated on the 30th day. Macroglossia (fig. 2) made feeding difficult so that a nasogastric tube was still being used at the most recent follow-up at 6 months. Neurophysiological development was normal so far and a partial glossectomy may be considered.

Discussion

Definition

Macroglossia is defined, in children and adults, as a resting tongue that protrudes beyond the teeth or alveolar ridge18 or mandible19. Overgrowth can involve the tongue and floor of the mouth and can extend to contiguous structures in the neck and oral area20.

Diagnosis

Computed tomography has been used to measure width and structures at the tongue base21 such as the hyoglossus and genioglossus muscles. There are no objective measurements throughout pregnancy of normal or abnormal fetal tongue size. This is because it is difficult to define reproducible points on or related to the fetal tongue length. Maximal fetal tongue width can be measured but is of no practical value. Future ultrasound technology will perhaps allow depiction and measurement similar to computed tomography. Until then fetal tongue size can be regarded as normal if, for most of the observation time, the tip of the tongue remains behind a imaginary line drawn on a sagittal scanning plane between the mandible and maxilla (fig. 3) or within the lower lip on an axial scan (fig. 4) and tongue movements are observed. In the four cases reported to date, different degrees of fetal macroglossia were described: increased appearence10 , subtle protrusion of fetal tongue beyond lips4 -similar to fig. 2, or extreme opening of the mouth by protruding tongue14,15.

Fig. 3: Midsagittal scan of fetal face showing a normal sized tongue (T) not exceeding imaginary line between maxilla and mandible (*) at 27 weeks gestation.

Fig. 4: Axial scan at 27 weeks gestation at the level of the tongue, showing a normal sized tongue (+++), the lip of which is within the lower lip (L). Spine (SP) and pharynx (*) epiglottis between tongue and pharynx.

Differential diagnosis

Table 1 lists the differential diagnosis of neonatal macroglossia and highlights the fact that, to our knowledge, macroglossia was diagnosed prenatally only in cases of Beckwith-Wiedemann syndrome, although the pediatric literature cites several other conditions associated with macroglossia.

Table 1: Macroglossia

Prenatally diagnosed

  • Beckwith-Wiedemann4,10,14,15

Observed in newborns

  • Beckwith-Wiedeann 1-4,11,12,15,24-30
  • ancyloglossia superior31
  • aspartylglucosaminuria23
  • autosomal dominant inheritance23,32
  • Behmel syndrome23
  • trisomy 2134,35,38
  • lethal dwarfism Blomstrand23
  • microcephaly-hamartoma Wiedemann23,36
  • mucopolysaccharidosis37
  • muscular idiopathic hypertrophy38-41
  • neoplasms13,18,20,34,42-45
  • skeletal dysplasia Urbach23
  • thyroid tissue persistence35
  • Tollner syndrome23
  • Trisomy 2246
  • variation of normal35

Observed later in life

  • acromegaly19,41,47
  • glycogenosis type IIa41
  • hypothyroidism3,18
  • inflammatory disease41
  • Laband syndrome41
  • multiple hemangiomas Segelman23
  • myxoedema41
  • mucolipidosis20
  • neurofibromatosis20
  • plasmacytoma41
  • postoperative complication49
  • primary amyloidosis18,21,50

 

Imaging the fetal tongue is crucial in cases of a fetal omphalocele or in fetuses with a family history of Beckwith-Wiedemann syndrome since the interpretation of a sonographically detected omphalocele changes significantly in the presence of macroglossia. Only Beckwith-Wiedemann syndrome is associated with of these two malformations23. Thus, in contrast with other cases of omphalocele, where there is a significant risk of chromosomal anomalies12, the procedure-related risk of fetal karyotyping could be avoided in cases of Beckwith-Wiedemann syndrome. The karyotyping could thus be done postnatally, rather than prenatally and include gene imprinting.

A case of isolated fetal macroglossia has hitherto not been reported and would probably need histopathologic evaluation.

Conclusion

There are many causes of congenital macroglossia although, to our knowledge, only four reported cases have been diagnosed prenatally, all as part of the Beckwith-Wiedemann syndrome. Improvement in imaging techniques and heightened awareness of sonographers may lead to earlier prenatal diagnosis even in cases other than Beckwith-Wiedemann syndrome.

Longitudinal studies will be necessary to show at which gestation overgrowth of the fetal tongue may begin, and studies on fetal swallowing may improve our knowledge of the development of hydramnios in cases of macroglossia.

References

1. Pettenati MJ, Haines JL, Higgins RR, et al. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 1986; 74: 143.

2. Brodeur GM. Genetic and cytogenetic aspects of Wilms" tumor. In: Pochedly C, Baum ES (eds.): Wilms" Tumor: Clinical and Biological Manifestations. New York, Elsevier, 1984; 125-45.

3. LaFranchi S. Diagnosis and treatment of hypothyroidism in children. Compr Ther 1987; 13(19): 20-30.

4. Wieacker P, Wilhelm Ch, Greiner P, et al. Prenatal diagnosis of Wiedemann-Beckwith syndrome. J Perinat Med 1989; 17: 351-55.

5. Ping AJ, Reeve AE, Law DJ, et al. Genetic linkage of Beckwith-Wiedemann syndrome to 11p15. Am J Hum Genet 1989; 44: 720-3.

6. Koufos A, Grundy P, Morgan K, et al. Familial Wiedemann-Beckwith syndrome and a second Wilms" tumor locus both map to 11p15.5. Am J Med Genet 1989; 44: 711-9.

7. Waziri M, Patil SR, Hanson JW, et al. Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. J Pediatr 1983; 102: 873.

8. Henry I, Bonaiti-Pellié C, Chehensse V, et al. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature, 21st June 1991; 351: 665-7.

9. Spencer GSG, Shabel F, Frisch H. Raised somatomedin associated with normal growth hormone. Arch Dis Child 1987; 55: 151.

10. Lodeiro JG, Byers JW, Chuipek S, et al. Prenatal diagnosis and perinatal management of the Beckwith-Wiedeman Syndrome: a case and review. Am J Perinatol 1989; 6(4): 446-9.

11. Sotelo-Avila C, Singer DB. Syndrome of hyperplastic visceromegaly and neonatal hypoglycemia (Beckwith syndrome). Pediatrics 1970; 46: 220.

12. Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JC. Prenatal Diagnosis of Congenital Anomalies. Norwalk, Connecticut, Appleton & Lange 1988: 220-3, 249, 294.

13. Koop CE, Moschakis EA. Capillary lymphangioma of the tongue complicated by glossitis. Paediatrics 1961; 27: 800-5.

14. Cobellis G, Iannoto P, Stabile M, et al. Prenatal ultrasound diagnosis of macroglossia in the Wiedemann-Beckwith syndrome. Prenat. Diagn 1988; 8 (1): 79-81.

15. Viljoen DL, Jaquire Z, Woods DL. Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome. 1991; 11: 167-75.

16. Yudkin PL, Aboualfa M, Eyre JA, et al. New birthweight and head circumference centiles for gestational ages 24 to 42 weeks. Early Hum Devel 1987; 15(1): 45-52.

17. Usher R, McLean F. Intrauterine growth of liveborn caucasian infants at sea level. J Pediatr 1969; 74: 901.

18. Weiss LS, White JA. Macroglossia: a review. J La state Med Soc 1990; 142(8): 13-6.

19. Murrant NJ, Gatland DJ. Indications for the surgical management of macroglossia in children. Hell Period Stomat Gnathopathoprosopike Cheir 1989; 4(4): 157-64.

20. Reynoso MC, Cantu JM, Jorgenson RJ. Macroglossia. In: Buyse ML (ed). Birth Defects Encyclopedia. Cambridge Massachusetts, Blackwell Scientific Publ. Inc. 1990: 1094-5.

21. Larsson SG, Benson L, Westermark P. Computed tomography of the tongue in primary amyloidosis. J Comput Assist Tomogr 1986; 10(5): 836-40.

22. Lindham S. Omphalocele and gastroschisis in Sweden 1965-1976. Acta Paediatr Scand 1981; 70: 55.

23. Baraitser M, Winter R. London Dysmorphology Database. Oxford, New York, Toronto, Oxford University Press 1990.

24. Forrester RM. Wiedemann-Beckwith syndrome (Letter). Lancet 1973; ii: 47.

25. Nivelon-Chevalier A, Mavel A, Michiels R, et al. Syndrome de Wiedeman-Beckwith familial: diagnostic antenatal echographique et confirmation histologique. J Génét Hum 1983; 31(5): 397-402.

26. Wiedemann HR. Complexe malformatif familial avec hernie ombilicale et macroglossie. Un syndrome nouveau ? J Génét Hum 1964; 13: 223-32.

27. Beckwith JB. Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects Orig Artic Ser 1969; 2: 188-96.

28. Filippi G, McKusick VA. The Beckwith-Wiedemann syndrome. Medicine (Baltimore) 1970; 49: 279-98.

29. Winter SC, Curry CJR, Smith JC, et al. Prenatal diagnosis of the Beckwith-Wiedemann syndrome. Am J Med Genet 1986; 24: 137-41.

30. Wiedemann HR. EMG syndrome. Lancet 1973, ii: 626-7.

31. Spivack J, Bennett JE. Glossopalatine ankylosis. Plast Reconstr Surg 1968; 42: 129-34.

32. Reynoso MC, Hernandez A, Soto F, et al. Autosomal dominant macroglossia in two unrelated families. Hum Genet 1986; 74(2): 200-2.

33. Limbrock GJ, Fischer-Brandies H, Avalle C. Castillo-Morales" orofacial therapy: treatment of 67 children with Down syndrome. Dev Med Child Neurol 1991; 33(4): 296-303.

34. Siddiqui A, Pensler JM. The efficacy of tongue resection in treatment of symptomatic macroglossia in the child. Ann Plast Surg 1990; 25(1): 14-17.

35. Byrne WJ. Disorders of the teeth, mouth and neck. In: Taeusch HW, Ballard RA, Avery ME. Schaffer and Avery"s diseases of the newborn. 6th ed. Philadelphia, W.B. Saunders 1991: 667-8.

36. Wiedemann HR, Grosse KR, Dibbern H. An atlas of characteristic syndromes: A Visual Aid to Diagnosis for Clinicians and Practising Physicians. London, Wolfe Medical Publications Ltd. 1985: 48-9.

37. Sjogren P, Pedersen T, Steinmetz H. Mucopolysaccharidosis and anaesthetic risks. Acta Anaesthesiol Scand 1987; 31(3): 214-8.

38. Kharbanda OP et al. Isolated true macroglossia. J Ind Med Assoc 1984; 82: 29-30.

39. Vogel JE, Mulliken JB, Kaban LB. Macroglossia: a review of the condition and a new classification. Plast Reconstr Surg 1986; 78(6): 715-23.

40. Sacco M, Bergonzelli V, Debernardi C, et al. Macroglossia. Considerations on a case load of 16 patients. Minerva Stomatol 1989; 38(9): 949-54.

41. Hamper K, Tschierschwitz I. Macroglossia in plasmacytoma. A case report. Laryngol Rhinol Otol Stuttg 1986; 65(12): 696-.

42. Basma NJ, Robin PE. Hemimacroglossia associated with plexiform neurofibromatosis (a case report). J Laringol Otol 1987; 101(7): 743-5.

43. Fantasis JE, Damm D. Congenital enlargement of the tongue. Gen Dent 1990; 38(4): 304, 313.

44. White MA. Lymphangioma of the tongue: report of case. ASDC J Dent Child 1987; 54(4): 280-2.

45. Laufer J, Girsault M. Hemolymphangioma of the tongue treated with combination embolization-surgery. Apropos of a case. Rev Stomatol Chir Maxillofac 1986; 87(3): 184-7.

46. Petersen MB, Hansen M, Djernes Beckwith-Wiedemann. Full trisomy 22 in a newborn infant. Ann Genet 1987; 39(2): 101-4.

47. Fu HD, Tang XF, Guo YP. Becker muscular dystrophy. Chin Med J Engl 1989; 102(5): 373-7.

48. Bazopoulou-Kyrkanidou E, Papagianoulis L, Papanicolaou S, et al. Laband syndrome: a case report. J Oral Pathol Med 1990; 19(8): 385-7.

49. Mayhew JF, Katz J, Miner M, et al. Anaesthesia for the achondroplastic dwarf. Can Anaesthes Soc J 1986; 33(2): 216-21.

50. Breathnach SM. Amyloid and amyloidosis. J Am Acad Dermatol 1988; 18(1 Pt 1): 1-16.

51. Toshiba SSA-270A, 3.5 MHz curved array, Toshiba Medical System, Tustin, CA

Help Support TheFetus.net :