Microglossia in a Newborn: A Case Report and Review of the Literature
Stanley Voigt, B.A., Aric Park, M.D., Mark A. Vecchiotti, M.D.
INTRODUCTION
Microglossia is a very rare condition with approximately 50 cases
reported in literature to date. Frequently, this disorder presents in
association with limb abnormalities and is grouped as a hypoglossia-
hypodactilia syndrome. In 1718, de Jussieu was the first to describe the
condition. He reported on a 15-year old with what he termed ‘congenital
lingual hypoplasia’. In 1932 the literature up to that date was review by
Rosenthal and he also documented the first report of the hypoglossia-
hypodactilia syndrome. Subsequent reports have been released which
confirming a relationship between hypoglossia and hypodactilia [1,3].
In this poster we discuss a case of isolated microglossia, its workup, and
management.
CASE PRESENTATION
Patient AR was born to a 21 year old G1P1 female via Cesarean section
secondary to fetal distress and polyhydramnios at 40 4/7 weeks at an
outside hospital. Otolaryngology consultation was performed to
evaluate the patient’s craniofacial abnormalities. Weight at birth was
3770 grams and Apgars were 4,7, and 8 at 1,5, and 10 minutes
respectively. The pregnancy was otherwise uneventful. He was
transferred to Tufts Medical Center for further workup of his
microglossia and retrognathia at day of life 1. Initially he was kept
n.p.o. and received tube feeds via a nasogastric tube until his swallowing
function could be fully assessed. On physical exam he was noted to
have marked retrognathia and a high arched palate, without associated
limb abnormalities (figure 2). His tongue deflected posteriorly with a
small anterior two-thirds of the tongue but normal appearing posterior
tongue. The posterior third of the tongue effaced the valleculae and
epiglottis. On imaging he was noted to have a sabertooth appearance to
his trachea along with evidence of supraglottic malacia on laryngoscopy
(figure 3). After evaluation by the feeding and swallowing team, he was
made n.p.o. due to risk for aspiration, which is a common finding in the
small number of documented microglossia cases. After a modified
barium swallow study and functional endoscopic evaluation of swallow
which confirmed aspiration, he underwent placement of a gastrostomy
tube for feeding on DOL 24.
He was discharged home on DOL 31 on G tube feeds in good condition
with close follow up every 1 to 2 months. Genetic workup did not
reveal any syndromic causes of his craniofacial abnormalities. At five
months of age, he passed a subsequent modified barium swallow and
was allowed to start soft solids with supplemental G tube feeds. His
parents have been referred to audiology for sign language classes as his
future expressive language may be delayed due to his microglossia.
Finally a craniofacial consultation was performed to discuss potential
intervention for his mild micrognathia.
Tufts Medical Center, Boston, Massachusetts
Figure 1: Embryology of the tongue. Note the anterior two thirds are
created by the combination of the tuberculum impar and the lateral lingual
swellings. The posterior tongue develops from the third arch mesoderm and
develops from the hypobranchial eminence. Hamilton et al, 1968
Figure 2: Sagittal CT of Soft Tissue Neck with Contrast. Note the minimal
development of the anterior 2/3s of the tongue as shown by the green arrow.
Figure 3. Physical exam findings in oral cavity. Note
the vestigial anterior 2/3 of tongue bud present.
DISCUSSION
Development of the tongue begins at the fourth week of
gestation when a swelling termed the tuberculum impar is
formed at the fusion site of the 1st and 2nd pharyngeal
arches. Between the 4th-8th weeks, the anterior 2/3rds of
the tongue develop by the fusion of the lateral lingual
swellings and tuberculum impar (figure 1). The posterior
third of the tongue develops from the hypobranchial
eminence [6].
A conclusive etiology for microglossia remains at this time unknown
however several theories have been postulated. Certain drugs used during
pregnancy such as diazepam, chlorpromazine, meclizine and tigan have been
thought to possibly contribute to the condition. Another proposed risk factor
is hyperthermia in utero especially in association with Moebius syndrome.
There is no substantial evidence for heredity or sexual preference in the
development of microglossia[1,3]. Interference of the stapedial blood
supply has been postulated by some as a potential cause leading to
malformation of the 2nd branchial arch [6]. Congenital anomalies associated
with some cases of microglossia or aglossia are: Hanhart Syndrome, Charles
M. syndrome, Robin sequence & Moebius syndrome [3]. Several cases of
microglossia have also been associated with situs inversus and dextrocardia
[6].
On physical exam, various oral anomalies may be present in association with
microglossia or aglossia. These patients tend to have a narrowing of the face
referred by many as “bird-like” along with retrognathia, a high palatal vault
and an excessive overbite [2]. Cleft palate has also been reported in a small
subset of cases. Intraoral bands may be present between the mandible and
maxilla involving soft tissue or bone. These attachments may require
surgery due to limitation of oral excursion or feeding. Uvular enlargement is
present in many cases of hypoglossia. A consistent finding later during
development are dental anomalies, notably absence of both the molars and
incisors leading to malocclusion. The muscles of the floor of the mouth,
particularly the mylohyoid, tend to hypertrophy over time and aid with
movement of food. Thus, problems with nutrition tend to subside as the
child ages. Taste sensation is usually intact and it is interesting to note that
some neonates present with enhanced taste perception [5].
Several developmental issues need to be followed as the patient matures.
The tongue is involved in speech, mastication, swallowing, and dental
development [3]. These issues have to be addressed through infancy and
childhood. The treatment team should involve a nutrition, psychology,
speech & hearing, general dentistry, and orthodontics if necessary [5].
Follow up should continue through adolescence to correct possible speech
impediments, deal with self-esteem issues from her facial appearance and
dentistry to address occlusal issues.
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Pediatric Otorhinolaryngology. (2003) 67, 473-477.
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