| Abstract|| |
Mixed choristomas of the oral cavity are uncommon lesions that show a variety of clinical presentations, histological appearance and growth patterns. Mixed choristoma with cleft palate is a very rare developmental malformation. We report an unusual case of mixed choristoma in posterior tongue and left submandibular region in a 6-month-old male baby who had cleft palate. The patient presented with spontaneous bleeding from mouth and recurrent swelling in submandibular region. The histology of the surgical resected specimens displayed features of heterotopic oral gastrointestinal cyst and glial choristoma. The swelling recurred 1 year after surgery; the histology of the second surgical resected specimen displayed scattered islands glial tissue.
Keywords: Cleft palate, cystic gastric choristoma, glial choristoma
|How to cite this article:|
Srinivas T, Shetty KP, Sinivas H. Mixed heterotopic gastrointestinal cyst and extranasal glial tissue of oral cavity with cleft palate. Afr J Paediatr Surg 2011;8:237-40
|How to cite this URL:|
Srinivas T, Shetty KP, Sinivas H. Mixed heterotopic gastrointestinal cyst and extranasal glial tissue of oral cavity with cleft palate. Afr J Paediatr Surg [serial online] 2011 [cited 2015 May 24];8:237-40. Available from: http://www.afrjpaedsurg.org/text.asp?2011/8/2/237/86073
| Introduction|| |
Choristoma or heterotopia is defined as a mass formed by normal tissue that is present in an abnormal location. Gastric choristoma is a well-described entity in gastrointestinal tract.  Glial choristoma is a developmental malformation of heterotopic central nervous tissue with limited growth potential.  Glial heterotopia has been described in nose, nasopharynx, orbit, palate, frontal sinus.  We present, to our knowledge, the first reported case of oral cystic gastric [(heterotopic gastrointestinal cyst (HGIC)] and glial heterotopia with cleft palate, which presented as cystic mass, associated with symptoms related to airway obstruction, feeding problems and bleeding from mouth. Incomplete surgical resection of the lesion leads to recurrence as seen as seen in our case.
| Case Report|| |
A poorly nourished, 6-month-old male child was brought to the hospital for cleft palate, recurrent episodes of spontaneous bleeding from mouth, and swelling in the left submandibular region. On clinical examination, the patient had cleft soft palate along with a lobulated, cystic swelling situated in left submandibular region extending along parapharyngeal area up to left supraclavicular region. The source of bleeding in the upper aerodigestive system could not be located even on general anaesthesia. Ultrasonography, computed tomography (CT) scan and magnetic resonance imaging (MRI) were done.
Ultrasonography of neck reveled multilocular cystic hypoechoic lesion in the left submandibular region, measuring about 5 × 3 cm. Wall thickness was minimal, and internal echoes were noted. No calcification or lymph node enlargement was seen. Left and right submandibular and parotid glands appeared normal. The sonological features suggested the possibility of cystic hygroma/lymphangioma.
CT scan of neck showed a hypodense, nonenhancing lesion in left submandibular region, left lateral aspect of neck and left parapharyngeal fossa. Superiorly, the lesion extended from the base of the skull to the level of clavicle. Medially, parapharyngeal and ptyregopalatine fossa were involved. No intracranial or intrathoracic extensions were seen. There was no evidence calcification or bone destruction. No cervical lymph node enlargement was seen. Another hypoechoic lesion was noted anteriorly at the base of the tongue. Septation was noted in the larger cystic hypoechoic lesion. Oropharynx appeared to be compressed by the lesion. CT scan features suggested multiloculated cystic lesion with a possibility of lymphangioma or cystic hygroma.
MRI showed a well-defined, multiseptate, thick-walled cystic lesion extending from left submandibular region along the parapharyngeal region to left sternomastoid muscle, and another separate less circumscribed lesion seen in the base of the tongue [Figure 1]. There was no intracranial or intrathoracic extension. The routine haematological and the biochemical parameters were normal. The clinical and the radiological diagnosis of cystic hygroma were made. The lesions were excised and palatoplasty was done.
|Figure 1: T2 weighted MRI showing multiloculated well-circumscribed cystic lesion in left submandibular region and another separate ill-circumscribed lesion in the base of the tongue, completely situated in the musculature of the tongue|
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The two surgical resected specimens were sent separately for histological examination. One specimen was a cystic mass measuring 5.5 × 3 × 2 cm, containing mucous, and another specimen was an irregular grey brown soft tissue mass measuring 3 × 2 cm. Histological examination of the cystic specimen showed fully developed gastric mucosa with mucosal ulceration [Figure 2], and sections from the irregular soft tissue mass revealed unencapsulated scattered mass of glial tissue which consisted largely of astrocytes with oval nuclei in a fibrillary background [Figure 3]. Masson trichrome stain and immunohistochemistry stain for glial fibrillary acidic protein (GFAP) [Figure 4] were positive, and this helped to confirm the histological diagnosis. The final diagnosis of heterotopic oral gastrointestinal cyst and glial choristoma with cleft soft palate was made. One year later, the swelling recurred in the submandibular region on the same side, with diffuse swelling of the dorsum of tongue. Repeat surgical excised specimen displayed glial tissue on microscopy. The patient has been followed up for 5 years and did not have further recurrence.
|Figure 2: High magnification view showed ulcerated gastric mucosa (H and E, ×400)|
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|Figure 3: Scattered islands of mature neuroglial tissue extending deeply throughout the tongue muscle (H and E, ×400); (inset) high magnifi cation view shows that the neuroglial tissue was composed of round to oval cells with uniform, basophilic nuclei resembling astrocytes enmeshed in eosinophilic, fibrillar network (H and E, ×400)|
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|Figure 4: Immunohistochemical staining for GFAP was strongly positive in the neuroglial tissue (IHC staining, ×100)|
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| Discussion|| |
Choristomas of head and neck are composed of the following tissue types: glial, cartilage, osseous, salivary gland, thyroid, respiratory mucosa and gastrointestinal mucosa.  Gastric choristoma is frequently seen in small intestine, gall bladder, biliary tract, meckel's diverticulum, colon and rectum.  The heterotopic gastric mucosa may present as both solid and cystic forms. The cystic variant is often referred to as heterotopic oral gastrointestinal cyst, enterocytoma, cystic tumour of tongue or alimentary tract cyst leading to confusion with foregut duplication, whereas the solid variant has been called as gastric heterotopia.  The solid form has been described in upper aerodigestive tract from nasopharynx to oropharynx. Oral HGIC is a rare entity. The first case of HGIC was described by Foderl in 1895. 
Glial choristoma is a developmental malformation of heterotopic mass of mature central nervous tissue with limited growth. Nasal gliomas have frequently been described, while tongue is considered to be one of the very rare sites of involvement of heterotopic brain.  Choristoma can be associated with other anomalies like cleft palate, ectopic pancreas in palate and macrostomia. Khunamornpong et al, in 1996 reported cleft palate with tongue mass containing gastrointestinal mucosa and pancreas in an 8-month-old baby.  Erdal Endreum et al, in 2001 had described gastric choristoma in tongue, adjoining the palatoglossal arch of the mouth, with macrostomia, prognathic mandible and cleft palate. 
Most cases of choristoma are reported in infants and children by 2 years of age, with an age range of newborn to 28 years, with male to female ratio of 3:2. , Choristomas are usually asymptomatic. In the oral cavity, approximately 30% of cases show increased salivation, altered speech, and difficulty in swallowing, feeding and respiration. ,, Those found in larynx and hypopharynx can present with dysphagia and airway obstruction.  The rapid rate of growth of the tumour stimulates malignancy.  Rarely, cases of peptic ulceration with gastric choristoma can present as bleeding from oral cavity, as seen in our case. The differential diagnosis for oral mass in newborn and early infancy includes cystic hygroma, dermoid, teratoma, encephalocoele, extranasal glial choristoma, haemangioma, neurofibroma, myofibroma and congenital granular cell tumour. ,,
CT and MRI can be used in the evaluation of mass lesion in oral cavity and head and neck region to formulate a differential diagnosis and narrow the diagnostic possibilities. MRI may be used as the primary imaging study, as it provides better soft tissue details and ability to visualise in the sagittal plane for determining the anatomical extent of the lesion and helping to design and execute treatment. It also helps to identify intracranial extension of the lesion, for distinction from encephalocoel. There was no evidence of intracranial extension in our case.
The histogenesis of the choristoma may vary depending on the type of tissue present in them. Several hypotheses have been proposed to explain the development of glial choristoma.  The most likely explanation is that a nest of pleuripotential cells that have become separated before the complete fusion of neural tube, integrates with myoblasts, and migrates to the tongue.  Similarly, several proposed theories have been put forth to explain the histogenesis of oral HGIC.  HGIC is said to be derived from misplaced embryonal remnants during early foetal development.  In the fourth week of development, the primitive stomach lies in the neck region close to the tongue anlage and is lined by undifferentiated endoderm, which possesses the capability of differentiating in a multidirectional fashion.  HGIC may arise from primitive endodermal cells trapped in the midline of the tongue lateral lingual swelling over tuberculum impar. , The entrapped cells would be protected from embryonic induction at first, later these uncommitted cells might differentiate in a multidirectional pattern and form well-organised, highly differentiated gastrointestinal mucosa. 
In conclusion, most cases of choristoma in oral cavity are asymptomatic. At times, they can present with distressing clinical symptoms or may start growing rapidly, mimicking malignancy. The importance of early diagnosis and appropriate management in such cases is emphasised, as the lesion is completely curable. Surgical excision is curative. Recurrences are quiet common due to incomplete resection. To prevent recurrence and complication, correct diagnosis using MRI can help in the assessment of the extent of lesion, which is important for the total excision. The prenatal diagnosis with the help of foetal MRI has allowed the treatment of these lesions even before the onset of symptoms and complications.
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Department of Pathology, K.S. Hegde Medical Academy, Nithyanand Nagar, Derelakatte, Mangalore - 575 018, Karnataka
Source of Support: None, Conflict of Interest: None
[Figure 1], [Figure 2], [Figure 3], [Figure 4]