CASE REPORT
Symptomatic Unilateral Submandibular Gland AplasiaAssociated with Ipsilateral Sublingual Gland Hypertrophy
Mehmet Yilmaz Æ Emin Karaman Æ Huseyin Isildak ÆOzgun Enver Æ Fahrettin Kilic
Published online: 16 June 2009
� Springer Science+Business Media, LLC 2009
Introduction
Aplasia or agenesis of the salivary gland is an uncommon
disorder. Since Gruber first described a case of bilateral
submandibular gland aplasia in 1885, about 30 cases have
been reported in the world medical literature [1]. One or all
of the glands may be absent. The absence of all major
salivary glands was the most frequently encountered pat-
tern in the reported cases [1, 2]. Other developmental
anomalies could be found in association with aplasia of the
salivary glands, such as atresia of the lacrimal puncta,
mandibulofacial dysostosis (Treacher-Collins syndrome),
or congenital malformations of the temporomandibular
component [3, 4]. Unilateral aplasia of the submandibular
gland is an extremely rare disorder and only 11 cases have
been reported since Bruno described the first case
encountered during a cadaver dissection in 1894. Most
reported cases of unilateral submandibular aplasia were
asymptomatic, probably because secretions from other
salivary glands compensated for the aplasia [5]. Congenital
unilateral absence of the submandibular gland is an isolated
phenomenon and may result from other unique defects of
early fetal development, unlike the cause of multiglandular
agenesis associated with other facial anomalies [6]. In this
study we report on a extremely rare case of isolated uni-
lateral submandibular aplasia presenting with xerostomia
and dysphagia which is associated with ipsilateral sublin-
gual gland hypertrophy.
Case Report
A 41-year-old woman presented to our hospital com-
plaining of dry lips and mouth, difficulty with swallowing
solid foods, heartburn, and changes in taste, over the pre-
vious 5 years. On intraoral examination, no dental or
periodontal disease was seen. The oral mucosa and sub-
mandibular papilla on both sides were normal. The sub-
mandibular gland was easily found on the left side by
bimanual palpation but was not found on the right side, and
no saliva was expelled from the right ductal orifice on
pressure of the right submandibular area. The teeth of the
patient were healthy and oral hygiene was good. The
general physical examination was normal. No additional
anomalies were present. Submandibular ultrasonography
(USG) showed the absence of the right submandibular
gland. Computed tomography (CT) showed complete
aplasia of the right submandibular gland with compensa-
tory hypertrophy of the ipsilateral sublingual gland
(Fig. 1). The left submandibular gland was in normal
position and of normal size. Other major salivary glands
were found to be normal, and no other neck lesions were
found on CT scans. Contrast-enhanced magnetic resonance
imaging (MRI) and scintigraphy were performed for fur-
ther characterization. The study demonstrated that the
sublingual mass had T1-weighted (Fig. 2) signal intensity
characteristics similar to those of the contralateral sub-
mandibular gland, and scintigraphic evaluation suggested
the absence of the right submandibular gland (Fig. 3). We
recommended palliative treatment to our patient in the
M. Yilmaz � E. Karaman � H. Isildak (&) � O. Enver
Department of Otorhinolaryngology, Cerrahpasa Medical
School, Istanbul University, Istanbul, Turkey
e-mail: [email protected]
F. Kilic
Department of Radiology, Cerrahpasa Medical School,
Istanbul University, Istanbul, Turkey
123
Dysphagia (2010) 25:70–72
DOI 10.1007/s00455-009-9238-8
form of increased oral fluid intake, oral moisturizers, and
synthetic saliva.
Discussion
Isolated unilateral major salivary gland aplasia is a rare
entity with only a few cases reported in the literature to
date. The true incidence of congenital submandibular gland
aplasia is unknown; our case represents the 12th reported
case. The major salivary glands originate from the prolif-
eration and ingrowth of the oral epithelium as a solid core
of cells into the underlying mesenchymal tissue between
the 4th and 12th weeks of intrauterine life. The parotid
glands appear during the fourth week of gestation in the
angle between the maxillary process and the mandibular
arch. The submandibular glands appear in the sixth week,
and the sublingual glands arise between the tongue and the
Fig. 1 Axial noncontrast cervical CT image reveals absence of the
right submandibular gland. The contralateral submandibular gland is
visualized (arrow)
Fig. 2 a Axial noncontrast fat-saturated T2-weighted MR image
shows normally located submandibular gland (arrow). Right
submandibular gland is absent from its normal anatomic region. bAxial noncontrast fat-saturated T2-weighted MR image shows a well-
defined mass (arrowhead) in the right sublingual space. The normal
left sublingual gland is visualized (arrow). c Axial contrast-enhanced
MR image demonstrates the right sublingual gland (arrowhead). The
contralateral submandibular gland (arrow) shows attenuation charac-
teristics similar to those of the right sublingual gland
Fig. 3 Scintigraphic evaluation suggested the absence of the right
submandibular gland
M. Yilmaz et al.: Submandibular Gland Aplasia 71
123
mandibular arch during the ninth week [7–9]. Aplasia of
the salivary gland may be partial or total; its cause is
uncertain but it is believed to result from a regional dis-
turbance in early fetal development [1, 6]. This entity can
accompany other developmental anomalies such as man-
dibulofacial dysostosis (Treacher-Collins syndrome), atre-
sia of the lacrimal puncta, or congenital malformations of
the temporomandibular component. These anomalies are
almost always seen in association with parotid gland
aplasias or multiple-gland agenesis. We did not encounter
any associated anomaly in the present case. In addition, all
other cases of unilateral submandibular gland aplasia
reported in the literature had no accompanying develop-
mental disorders. An increased incidence of dental caries,
dryness of the mouth, and difficulty eating and swallowing
are seen in patients with multiple-gland aplasia. Unilateral
aplasia can result in hypertrophy of the other gland [1, 10].
In our case the patient was symptomatic even though the
secretions of other glands compensated for it; this is the
second report of ipsilateral sublingual hypertrophy associ-
ated with unilateral submandibular aplasia. Scintigraphy
with Tc-pertechnatate, sialography, and CT were the
methods used in previous cases to demonstrate agenesis
[11]. The first case was found during a cadaver dissection
in 1894 and the second was detected by 99mTc-pertechne-
tate scintigraphy in 1978 [12]. In our patient we were able
to diagnose submandibular gland aplasia and compensatory
sublingual gland hypertrophy by using a combination of
USG, 99mTc-pertechnetate scintigraphy, CT, and MRI.
In conclusion, aplasia of some or all of the major sali-
vary glands is a rare disorder that can be symptomatic and
accompany hypertrophy of other major salivary glands.
Several radiographic options for diagnosis exist, and
treatment is geared toward increased dental hygiene and
tooth protection. Isolated unilateral major salivary gland
aplasia should be considered in the differential diagnosis of
dysphagia and xerostomia. Besides diabetes, cancer treat-
ments, and Sjogren’s syndrome, isolated unilateral major
salivary gland aplasia may be the cause of xerostomia. The
careful evaluation of patients with dryness of the mouth,
dental caries, and poor oral hygiene and the scanning of
patients with developmental anomalies may help in the
detection of new cases.
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M. Yilmaz MD
E. Karaman MD
H. Isildak MD
O. Enver MD
F. Kilic MD
72 M. Yilmaz et al.: Submandibular Gland Aplasia
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