Isolated Giant Congenital Macroglossia in a Nigerian Newborn

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Congenital macroglossia is a rare condition and the true incidence of isolated congenital macroglossia is unknown because of its association with multiple genetic syndromes. Its importance lies in the complications that this presentation can cause such as difficulty in feeding and breathing. We report a case of isolated massive tongue enlargement in a 10- hour old female term neonate with the aim of creating    awareness    about    this    clinical condition.

Keywords: Isolated congenital macroglossia, newborn, Nigeria

Macroglossia simply refers to the protrusion of a tongue beyond the alveolar ridge in a resting position, often due to increased tongue size relative to the oral cavity.^1,2 It can be an isolated disorder or a component of a syndromic presentation such as Beckwith- Wiedemann syndrome, Down syndrome, Simpson-Golabi-Behmel syndrome among others.³ It is a rare condition and the true incidence of isolated congenital macroglossia is unknown because of the association of macroglossia with multiple genetic syndromes.^1,4

Vogel et al.⁵ classified macroglossia into two forms: true and relative macroglossia. True macroglossia is due to a primary tongue condition or alteration which can be congenital or acquired and histology correlates with clinical findings of an elongated tongue. Relative macroglossia is a result of a small oral cavity or a neurological dysfunction with a normal sized tongue, as it occurs in children with Pierre Robin syndrome or Down syndrome. Myer et al.⁶ however, classified the condition differently as generalized or localized, subdividing it according to its aetiology as congenital (such as idiopathic tongue muscle hypertrophy), inflammatory (as in sarcoidosis, actinomycosis), traumatic (like intubation injury, haemorrhage/ haematoma), metabolic (such as in mucopolysaccharidoses; Hurler/ Hunter syndrome, hypothyroidism) and neoplasic (haemangioma, lymphangioma, plasmacytoma).

The clinical significance of macroglossia lies in the potential complications, some of which may be life-threatening.⁷ It interferes with feeding, breathing, swallowing, and normal jaw development. It also interferes with teeth positioning resulting in dental malocclusion.⁴’⁸

We report a case of congenital massive tongue enlargement to create awareness about this rare clinical condition.

Case presentation

A 10-hour old female neonate was brought to our Special Care Baby Unit (SCBU) with marked tongue enlargement and inability to feed since birth. She was yet to commence feed, since oral feeding was not possible due to the tongue mass. She was delivered by spontaneous vaginal delivery at home under the supervision of an unskilled birth attendant. The baby cried immediately after birth but the APGAR scores and birth weight were not documented. A prenatal ultrasound identified no foetal abnormality. There was no history of parental consanguinity and no family history of similar condition. On examination, the patient was in no obvious respiratory distress. She was pink, afebrile, anicteric, acyanosed, no coarseness of the face, and weighed 3.2 kg. The occipito- frontal circumference was 36cm and length was 51cm. The tongue was grossly enlarged occluding the buccal cavity and protruding out of the mouth stretching the lips. See Figure 1. The protruded portion measured about 8cm × 10cm and the mass did not transilluminate. There was no hemihypertrophy or any dysmorphic facie. Abdominal examination revealed absence of para-umbilical or inguinal hernia and no other abnormality was detected. The chest was clinically clear. Muscle tone was globally normal. Other systems were essentially within normal limits. There were no features suggestive of the presence of any syndromic associations. Urgent random blood sugar done was 5.0mmol/L. Abdominopelvic ultrasound scan revealed no abnormality. Enteral feeding was immediately initiated through a nasogastric tube. The tongue was also covered with saline-soaked gauze. The parents were adequately counseled about the condition and the baby was subsequently referred to a tertiary facility for possible glossectomy. The patient, however, failed to present to the referred hospital and the care giver’s mobile number could not be connected for voice call for follow up.

Figure 1 Term neonate with Macroglosia (arrow pointing at the big tongue)

Macroglossia, an abnormal enlargement of the tongue, is a rare oral anomaly among newborns.⁴’⁹ In many cases, it may occur secondary to a primary disorder that may be either congenital (e.g., Down syndrome or Beckwith-Wiedemann syndrome) or acquired (e.g., as a result of trauma or malignancy).¹ In our patient, it occurred at birth and there were no other attributable features of any congenital syndromic disorders commonly associated with macroglossia; implying an isolated congenital macroglossia. Occasionally, the condition can be transmitted as an autosomal dominant genetic trait.⁴ The absence of a family history of macroglossia in our patient does not completely exclude the diagnosis of the autosomal dominant variant of the disorder which could be due to a new genetic mutation in any of the parents. Furthermore, there was no history of ingestion of any orthodox or herbal medications other than routine antenatal care drugs during pregnancy. Congenital hypothyroidism, which is a possible cause of macroglossia, is rarely clinically recognized in the newborn because most affected infants are asymptomatic at birth, even with complete agenesis of the thyroid gland. This is due to transplacental passage of maternal T4, which provides foetal levels that are approximately 33% of normal at birth.^10,11 In patients with congenital hypothyroidism, macroglossia results from gradual accumulation of glycosaminoglycans and lingual muscular hypertrophy.¹⁰ Macroglossia especially of the degree presented here is therefore an uncommon neonatal manifestation of congenital hypothyroidism. Basani et al ¹¹ however described a term neonate presenting with macroglossia as the only clinical manifestation of hypothyroidism; though the size of the tongue was far less than the index baby. Diagnosis was made with low serum T3, T4 and high TSH. Tongue size regressed with Levothyroxine. Although we could not assay thyroid hormones before the baby was referred, we had hoped this would be part of the comprehensive work-up at the referral hospital.

 Macroglossia caused by systemic disorders often responds to treatment of the primary conditions (such as hypothyroidism) and rarely requires surgery.¹² Surgical treatment, when required, can constitute significant challenge due to limited experience, particularly with an extremely enlarged tongue,⁸ as seen in our patient. The rarity of this disorder is likely to hamper the acquisition of the required specialized surgical skills. Surgical correction of macroglossia is usually necessary when it constitutes a significant cosmetic concern, causes feeding difficulties, speech problems, airway obstruction, excessive tongue desiccation, ulceration or when at risk of tongue trauma.⁷ The primary objective of the surgical treatment is provision of a tongue that can function in the most efficient manner.¹² There is no general agreement as to the optimal age for surgical correction.

 However, tongue reduction procedures are recommended after 6 months of age, which coincides with a reduction in the rate of tongue growth.¹² Early intervention even in the neonatal age, can, however, be undertaken in cases of huge tongues.^7,8 Our patient had a massively big tongue associated with inability to feed and was potentially at risk of airway obstruction, tongue desiccation and trauma and would therefore benefit from early surgical intervention. This informed our decision for early referral for treatment in a facility with the specialized skills for surgery (glossectomy) which consists of structural reduction and functional (lingual mobility and sensibility) preservation.

Isolated giant congenital macroglossia is a rare clinical condition. Experience in the management is still limited with few centres having capacity for this. Massive congenital macroglossia prevents oral feeding; nasogastric tube feeding should therefore be instituted immediately while putting adequate preparation in place for further interventions to mitigate other anticipated complications

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