Enteric duplication cyst of the tongue in a newborn: A case report and literature review

Ariel Antonio Arteta; Alejandro Cardona Palacio; Efrain Alvarez Martinez

doi:10.4103/jomfp.jomfp_414_21



ONLINE ONLY ARTICLES - CASE REPORT

Year : 2022 \| Volume : 26 \| Issue : 1 \| Page : 131-132

Enteric duplication cyst of the tongue in a newborn: A case report and literature review

Ariel Antonio Arteta¹, Alejandro Cardona Palacio², Efrain Alvarez Martinez³
¹ Department of Pathology, University of Antioquia, Medellín, Colombia; Department of Grupo de Investigaciones en Patología Universidad de Antioquia (GRIP-UdeA)
² Department of Pathology Resident, University of Antioquia, Medellín, Colombia
³ Department of Maxillofacial Surgery, University of Antioquia, Medellín, Colombia

Date of Submission	30-Nov-2021
Date of Decision	11-Dec-2021
Date of Acceptance	21-Jan-2022
Date of Web Publication	31-Mar-2022

Correspondence Address:
Ariel Antonio Arteta
Department of Pathology, University of Antioquia, Calle 67 # 53-108, Medellín

Source of Support: None, Conflict of Interest: None

Check

DOI: 10.4103/jomfp.jomfp_414_21

Abstract

Enteric duplication cysts (EDCs) are congenital anomalies. We report the case of a 5-day-old girl with a 2.0 cm congenital oral mass in the tongue, an extremely uncommon site of EDC. The tongue mass was resected without complication; microscopic findings were characteristic of an EDC, and the patient is doing very well. The English literature was researched for the cases of single congenital oral cavity masses diagnosed prenatally or at birth as EDC or EDC-like lesions. Cystic lesions of the oral cavity partially lined by gastrointestinal epithelium, without teratoma features, have received several names. Similarities between EDC and EDC-like lesions favor the idea of one lesion with several morphologies manifest along a spectrum and that the necessity for EDC diagnosis of the smooth muscle coat criteria could be re-evaluated to improve the categorization of these lesions and better understand the pathogenic mechanism.

Keywords: Case report 4, congenital tongue tumors 2, oral cyst 3, tongue neoplasms 1

How to cite this article:
Arteta AA, Palacio AC, Martinez EA. Enteric duplication cyst of the tongue in a newborn: A case report and literature review. J Oral Maxillofac Pathol 2022;26:131-2

How to cite this URL:
Arteta AA, Palacio AC, Martinez EA. Enteric duplication cyst of the tongue in a newborn: A case report and literature review. J Oral Maxillofac Pathol [serial online] 2022 [cited 2022 May 26];26:131-2. Available from: https://www.jomfp.in/text.asp?2022/26/1/131/341411

Introduction

Enteric duplication cysts (EDCs) are rare, congenital anomalies that usually present in the perinatal period and can be found anywhere along the gastrointestinal tract. There is a slight predominance in males and an overall incidence in the whole gastrointestinal tract of 1:4500 in autopsy case series.^[1] Enteric duplications are cysts or tubular structures that often share the muscular gastrointestinal wall, laying alongside the intestinal tube, but they can also lie outside the gastrointestinal tract.^[2] The tongue is an extremely unusual site for EDCs, representing 0.3% of all EDCs^[3] with a few published cases in the English literature. Here, we present the case report of a congenital tongue lesion, partially lined by gastric, respiratory, and squamous type epithelia, partially covered by smooth muscle coat, and diagnosed as an EDC.

Case Report

A 5-day-old girl was brought from a rural area to the maxillofacial surgery department, due to a congenital oral mass that was hindering the feeding process. Her mother, a previous healthy 16-year-old woman who did not attend regular prenatal clinical visits. Toxoplasma (IgM-IgG), Hepatitis B virus, HIV, and remaining routine laboratory tests ruled out prenatal infection, and thyroid stimulating hormone was within normal range. The patient was born at 38 weeks gestation through spontaneous vaginal delivery, with an appearance, Pulse, Grimace, Activity, and Respiration score of 9¹/10⁵, a birth weight of 2550 g, a size of 44 cm, and a cephalic perimeter of 32 cm. Physical examination was unremarkable except for a 2.0 cm cystic, nonpulsatile, renitent, translucent lesion in the tip of the tongue [Figure 1], with an implantation base of equal size, that was hindering mouth occlusion, suction development, and the breastfeeding process. The tongue mass was resected without complications, allowing the initiation of normal breastfeeding. The patient was discharged without any further interventions and is doing very well in the follow-up evaluations regarding weight gain and neurodevelopment.

Figure 1: (a and b) Preoperative clinical images of the congenital tongue mass. (c and d) Microscopic findings of the cystic lesion (H & E, ×100), lined by a mixture of squamous, respiratory an antral type of epithelium (black arrow) with a discontinuous smooth muscle coat (yellow arrow) on the wall

Click here to view

The resected mass was sent to the pathology laboratory for analysis. Upon macroscopic examination, the 2.0 cm cystic lesion was translucent, unilocular, filled with a clear, watery fluid, possessed no papilla on the external or internal surfaces and had an average wall thickness of 0.2 cm. The microscopic analysis shows a benign cystic lesion, whose internal surface was covered by epithelial cells, most of them squamous admixed with respiratory and antral type epithelia. The wall of the cyst was composed of dense connective tissue with thin strands of striated and smooth muscle, and congestive small vessels. No teratoma elements were identified, and the diagnosis of an EDC was rendered.

Discussion

The endoderm is an epithelial layer of the embryonic trilaminar germ disc that lines the innermost surface of the embryo, from the buccopharyngeal membrane to the cloacal membrane. Its relationship with the development of many organs and accessory glands in the head and neck region, and the respiratory and gastrointestinal tract, highlights the plasticity of endodermic epithelial cells. One expression of this plasticity is the diversity of endodermally derived epithelium such as squamous, gastric, respiratory and intestinal, which can be found alone or mixed, lining benign cystic lesions.^[4] Several mechanisms have been proposed as theories for EDC or EDC-like lesion pathogenesis, relying on the presence or persistence of endodermally-derived components in unusual locations. Those mechanisms include the misplacement of embryonal rest,^[5] the local differentiation or metaplasia of pluripotent epithelial cells,^[6] the incomplete coalescence of the lacuna between epithelial cells in the elongating, developing gut,^[7] and the presence of buds of intestinal epithelium or endoderm within the submucosal tissue,^[8] among others. The most widely accepted theory for EDC development was elucidated by Veeneklaas, whose theory is based on the observation of an association between clefts and rib anomalies and EDC.^[9] As a result of these derangements in notochord development, Veeneklaas proposed that EDC can arise from entrapped endoderm tissue during notochord plate infolding. To reinforce Veeneklaas' theory, Qi et al., induced EDC via Adriamycin injection in pregnant Sprague-Dawley female rats, finding that notochord anomalies such as esophageal atresia/tracheesophageal fistula were related to EDC.^[10] In this experimental survey, the muscle coat in EDC was not observed in young embryos, suggesting that the smooth muscle coat may be a part of the maturation process of the lesion and that a real EDC may or may not be covered by the muscle coat. Oral EDCs are not commonly associated with malformations and Veeneklaas' EDC pathogenesis theory cannot explain mouth EDCs. Hence, all theories proposed so far have failed to describe a mechanism common to the diverse anatomic locations in which EDCs can occur and thus there may be distinctive pathogenic mechanisms related to specific anatomic locations of EDCs.

Cystic lesions of the oral cavity partially lined by gastrointestinal epithelium, without teratoma features, have received several names such as “EDC, s” “foregut duplication cysts,” “gastric duplication cysts,” “heterotopic gastrointestinal cysts” and “lingual choristoma.” All these lesions are very similar from a histological and clinical point of view are cystic lesions that infrequently involve the mouth cavity or the tongue and can be lined not just by gastrointestinal epithelium but also by a mix of gastrointestinal and respiratory epithelia. The term EDC was coined by Fitz in 1884 in his book of persistent omphalomesenteric remains,^[11] then in 1927 Schultz and Toyama published several descriptions of an intra-oral cyst lined by respiratory and gastric epithelia.^[12] Later, Gorlin and Jirasek,^[13] Brown and Lister,^[14],[15] published work on similar clinical and histological lesions but with different denominations, limiting the grouping of the cases. In the semantic chaos, Brown^[15] proposed that an EDC must fulfil three criteria: (1) it must have a coat of smooth muscle, (2) it must be attached to some part of the alimentary tract and (3) it must have a mucosal lining similar to that of some part of the alimentary tract. These three criteria were proposed to differentiate EDCs from other cystic lesions lined by epithelial components of the foregut. In the three criteria proposed by brown, the hallmark of an EDC is the presence of smooth muscle tissue in the cyst wall. It is possible that EDCs with the smooth muscle coat or EDC-like lesions without it are, broadly speaking, the same lesion with slightly different histological characteristics associated with the tumorigenic mechanism or time of evolution, although ultimately a benign cystic lesion lined by endodermally derived epithelium.

We reviewed the English literature looking for single congenital oral cavity masses diagnosed prenatally or at birth, that were partially covered by gastrointestinal, respiratory, squamous, or a mixture of these epithelia, with or without muscle in the cyst wall, and absent teratoma features. We were able to retrieve 42 cases including the current case that are summarized in [Table 1]. From the 42 cases, the male/female ratio was 2:1, the average size of the masses was 2.8 cm, the tongue and the mouth floor were almost equally involved, and there were no differences regarding sex and mass location. Regarding the epithelial lining, the gastric epithelium was the most common at 29%, followed by gastric and respiratory covering at 23%. There were no statistically significant differences between epithelial lining, location, and sex. There was just one case associated with a gross malformation, a right sclerocorneal microphthalmia,^[16] unrelated to the notochord plate, suggesting that congenital EDC or EDC-like lesions do not have a strong association with malformations. However, there is a case in which two brothers, 112 years old and the other a newborn, were both affected with oral EDC.^[17] This phenomenon was not reported in the remaining patients' mothers, fathers, or siblings, and thus there is no clear epidemiological support for EDC as an inherited trait. The clinical, macroscopic, and microscopic similarities between EDC and EDC-like lesions favor the idea of one lesion with several morphologies manifest along a spectrum, and that the smooth muscle coat criteria proposed by Brown could be re-evaluated to improve the categorization of these lesions and better understand the pathogenic mechanism.

Table 1: Resume of published cases of congenital mouth masses covered by endodermally-derived epithelium

Click here to view

Statement of ethics

The Institutional Human Ethics Committee approved this case report. Written, informed consent was given by the patient's mother.

Author contribution statement

AAA-ACP: Slide review and interpretation of pathology specimens. EAM: Clinical data acquisition and interpretation. All the authors were involved in drafting and revision of the manuscript, and approval of the final version.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.[38]

References

1.	Gantwerker EA, Hughes AL, Silvera VM, Vargas SO, Rahbar R. Management of a large antenatally recognized foregut duplication cyst of the tongue causing respiratory distress at birth. JAMA Otolaryngol Head Neck Surg 2014;140:1065-9.
2.	LaBagnara J Jr, Zauk A, Rankin L, Valda V. Enteric duplications of the mouth. Otolaryngol Head Neck Surg 1993;108:187-9.
3.	Eaton D, Billings K, Timmons C, Booth T, Biavati JM. Congenital foregut duplication cysts of the anterior tongue. Arch Otolaryngol Head Neck Surg 2001;127:1484-7.
4.	Houshmand G, Hosseinzadeh K, Ozolek J. Prenatal Magnetic Resonance Imaging (MRI) findings of a foregut duplication cyst of the tongue: Value of real-time MRI evaluation of the fetal swallowing mechanism. J Ultrasound Med 2011;30:843-50.
5.	Oginni FO, Oladejo T, Braimah RO, Adenekan AT. Sublingual epidermoid cyst in a neonate. Ann Maxillofac Surg 2014;4:96-8. [PUBMED] [Full text]
6.	Burton DM, Kearns DB, Seid AB, Pransky SM, Billman G. Tongue gastric choristoma: Failure to localize by technetium-99m pertechnetate scan. Int J Pediatr Otorhinolaryngol 1992;24:91-5.
7.	Kong K, Walker P, Cassey J, O'Callaghan S. Foregut duplication cyst arising in the floor of mouth. Int J Pediatr Otorhinolaryngol 2004;68:827-30.
8.	Corić M, Seiwerth S, Bumber Z. Congenital oral gastrointestinal cyst: An immunohistochemical analysis. Eur Arch Otorhinolaryngol 2000;257:459-61.
9.	Luo Y, Shillingford N, Koempel JA. Histopathologic finding of both gastric and respiratory epithelia in a lingual foregut cyst. Case Rep Med 2015;2015:278376.
10.	Qi BQ, Beasley SW, Williams AK. Evidence of a common pathogenesis for foregut duplications and esophageal atresia with tracheo-esophageal fistula. Anat Rec 2001;264:93-100.
11.	Reginal H. Fitz. Persistent Omphalo-Mesenteric Remains; their Importance in the Causation of Intestinal Duplication, Cyst Formation and Obstruction. Elsevier (United States): The American Journal of Medical Sciences; 1884.
12.	Morgan WE, Jones JK, Flaitz CM, Hicks MJ. Congenital heterotopic gastrointestinal cyst of the oral cavity in a neonate: Case report and review of literature. Int J Pediatr Otorhinolaryngol 1996;36:69-77.
13.	Gorlin RJ, Jirasek JE. Oral cysts containing gastric or intestinal mucosa. An unusual embryological accident or heterotopia. Arch Otolaryngol Chic Ill 1960 1970;91:594-7.
14.	Lister J, Zachary RB. Cystic duplications in the tongue. J Pediatr Surg 1968;3:491-3.
15.	Brown S, Kerr-Wilson R. Intra-oral duplication cyst. J Pediatr Surg 1978;13:95-6.
16.	Aviram R, Yaffe D, Kidron D, Tepper R, Regev R. Prenatal diagnosis of oral cyst caused by foregut duplication. Fetal Diagn Ther 2009;25:346-8.
17.	Davis PL 3^rd, Gibson KG, Evans AK. Foregut duplication cysts in siblings: A case report. Int J Pediatr Otorhinolaryngol 2010;74:1331-4.
18.	Ortiz MJ, Fay JT, Weir GT. Heterotopic gastric mucosa of the tongue. J Oral Maxillofac Surg 1982;40:667-70.
19.	Surana R, Losty P, Fitzgerald RJ. Heterotopic gastric cyst of the tongue in a newborn. Eur J Pediatr Surg 1993;3:110-1.
20.	Chen MK, Gross E, Lobe TE. Perinatal management of enteric duplication cysts of the tongue. Am J Perinatol 1997;14:161-3.
21.	Mandell DL, Ranganathan S, Bluestone CD. Neonatal lingual choristoma with respiratory and gastric epithelium. Arch Otolaryngol Head Neck Surg 2002;128:1321-4.
22.	El-Bitar MA, Milmoe G, Kumar S. Intralingual foregut duplication cyst in a newborn. Ear Nose Throat J 2003;82:454-6.
23.	Kadkade P, Planksy T, Bent JP, Prasad M. Radiology quiz case 2. Heterotopic gastrointestinal cyst of the oral cavity. Arch Otolaryngol Head Neck Surg 2004;130:373-5.
24.	Rousseau T, Couvreur S, Senet-Lacombe E, Durand C, Justrabo E, Malka G, et al. Prenatal diagnosis of enteric duplication cyst of the tongue. Prenat Diagn 2004;24:98-100.
25.	Puvaneswary M, Cassey J. Magnetic resonance imaging findings of a foregut duplication cyst of the floor of the mouth in a fetus. Australas Radiol 2005;49:66-8.
26.	Hall NJ, Ade-Ajayi N, Peebles D, Pierro A. Antenatally diagnosed duplication cyst of the tongue: Modern imaging modalities assist perinatal management. Pediatr Surg Int 2005;21:289-91.
27.	Satish Kumar KV, Joshi M, Vishwanath N, Akhtar T, Oak SN. Neonatal lingual gastric duplication cyst: A rare case report. J Indian Assoc Pediatr Surg 2006;11:97-8.
28.	Hambarde S, Bendre P, Taide D. Foregut duplication cyst presenting as lingual swelling: Case report and review of literature. Natl J Maxillofac Surg 2011;2:2-5. [PUBMED] [Full text]
29.	Blanchard M, Kadlub N, Boudjemaa S, Cassier S, Garel C, Audry G, et al. Tongue cyst in children: Foregut duplication, a possible diagnosis. Rev Stomatol Chir Maxillofac 2012;113:442-7.
30.	Madan HK, Swain L, Borkar J. Anesthetic management of a neonatal lingual gastric duplication cyst: Report of a rare case. J Anesth 2012;26:438-41.
31.	Joshi R, Cobb AR, Wilson P, Bailey BM. Lingual cyst lined by respiratory and gastric epithelium in a neonate. Br J Oral Maxillofac Surg 2013;51:173-5.
32.	Rosa AC, Hiramatsu DM, de Moraes FR, Passador-Santos F, de Araújo VC, Soares AB. Oral foregut cyst in a neonate. J Craniofac Surg 2013;24:2158-60.
33.	Schrotenboer J, Heider A, Smith E, Aronovich S. Foregut duplication cyst of the floor of mouth in a neonate: Case report. Br J Oral Maxillofac Surg 2016;54:1019-21.
34.	Méndez Sáenz MA, de Jesús Villegas González M, Ponce Camacho MA, Cavazos Cavazos LM, Ibarra BS, Esquivel García BI, et al. Respiratory distress associated with heterotopic gastrointestinal cysts of the oral cavity: A case report. Ann Med Surg (Lond) 2016;12:43-6.
35.	Knowles KJ, Berkovic J, Gungor A, Al Shaarani M, Lockhart V, Al-Delphi F, et al. Oral foregut duplication cysts: A rare and fascinating congenital lesion. Case report and review of the literature. Am J Otolaryngol 2017;38:724-5.
36.	Ginat DT, Carll T, Baroody FM. Heterotopic gastrointestinal cyst of the oral cavity radiology-pathology correlation. Head Neck Pathol 2019;13:668-70.
37.	Lee AD, Harada K, Tanaka S, Yokota Y, Mima T, Enomoto A, et al. Large lingual heterotopic gastrointestinal cyst in a newborn: A case report. World J Clin Cases 2020;8:3808-13.
38.	Shabani S, Cheek BJ, Post-Martens K, Andreoli SM. Neonatal airway obstruction due to a massive lingual foregut duplication cyst. BMJ Case Rep 2020;13:e233907.