A case report of a patient with cleft palate carrying the risk of tetraplegia.

Abstract

Spondyloepiphyseal dysplasia congenita (SEDC) is an inherited disorder of bone growth that results in short-trunk dwarfism, skeletal abnormalities, disorders in vision and hearing, atlanto-axial instability, and cleft palate. This important anomaly of the cervical vertebrae carries the risk of tetraplegia during cleft palate operations. In this case report, we discuss a case of spondyloepiphyseal dysplasia congenita, the perioperative and postoperative measures, and the risk of tetraplegia.

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A Case Report of a Patient With Cleft Palate Carrying the Risk of
Tetraplegia
Daghan Isik, M.D., Savas Guner, M.D., Serhat Avcu, M.D., Ugur Goktas, M.D., Bekir Atik, M.D.

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CASE REPORTS
A Case Report of a Patient With Cleft Palate Carrying the Risk of Tetraplegia
Daghan Isik, M.D., Savas Guner, M.D., Serhat Avcu, M.D., Ugur Goktas, M.D., Bekir Atik, M.D.
Spondyloepiphyseal dysplasia congenita (SEDC) is an inherited disorder of
bone growth that results in short-trunk dwarfism, skeletal abnormalities,
disorders in vision and hearing, atlanto-axial instability, and cleft palate. This
important anomaly of the cervical vertebrae carries the risk of tetraplegia
during cleft palate operations. In this case report, we discuss a case of
spondyloepiphyseal dysplasia congenita, the perioperative and postoperative
measures, and the risk of tetraplegia.
KEY WORDS: cleft palate, dwarfism, spondyloepiphyseal dysplasia congenita,
tetraplegia
Spondyloepiphyseal dysplasia congenita (SEDC) is a rare
autosomal dominant congenital disorder characterized by
dysplasia of the epiphysis of the long bones and vertebrae,
short trunk dwarfism, atlanto-axial instability due to the
hypoplasia of the odontoideum, and cleft palate. It was first
reported by Spranger and Wiedemann (1966). The cause of
atlanto-axial instability is the lack of or hypoplasia of the os
odontoideum. It was suggested that minor trauma or exten-
sion during the intubation in surgery may lead to signs of C1-
C2 spinal cord compression, including tetraparesis, tetraple-
gia,myelopathy,orevendeathinthesepatients(Kopits,1976;
Nakamura et al., 1998; Redl, 1998; Gembun et al., 2001;
Miyoshi et al., 2004). In this case report, we discuss a patient
with SEDC on whom we performed repair of the cleft palate,
as well as the measures and the risks related to instability.
CASE REPORT
A 1.5-year-old boy was brought to our clinic by his family
due to cleft palate. The patient’s body weight was 7.8 kg, and
his height was 65 cm (,3rd percentile). No diagnosis had
been made despite the fact that he had been under follow-up
for dwarfism by the pediatrics clinic since he was 1 year old.
Thepatienthadanincompletecleftpalate(Fig. 1).Therewas
no mental retardation. However, the patient was not able to
walk yet. The trunk and the extremities were short (Fig. 2).
Radiographs showed a short trunk due to platyspondyly
(hypoplastic and irregular vertebral corpuses), short long
bones, and coxa vara. A sagittal T2-weighted MRI scan
showed platyspondyly, atlanto-axial instability, and related
angulation toward the posterior in the C1-C2 vertebrae,
spinal cord compression at this level, and narrowing in the
anteroposterior diameter of the spinal canal (Figs. 3 and 4).
After establishment of the diagnosis as SEDC, the patient
underwent consultation at the orthopedic clinic for repair of
the cervical instability before planning repair of the cleft
palate. They suggested an operation in adulthood.
During the operation for cleft palate repair, the patient’s
head and body were supported on four sides with cushions
filled with silicone gel (Head Rest, E Uzumcu Tibbi Cihaz ve
Medikal Gaz Sis. A.S., Ankara, Turkey) in order to limit
flexion, extension, and rotation movements. The Trendelen-
burg position and intubation was gently completed after the
vocal cords of the patient had been viewed by laryngoscope
without hyperextension. The patient’s head was not extended
during the application of a Dingman mouth opener, during
the operation, or during the removal of the mouth opener.
No complications were observed after the palatoplasty.
DISCUSSION
Spondyloepiphyseal dysplasia congenita is a congenital
skeletal disorder characterized by short-trunk dwarfism,
short neck, hypoplasia of the femoral head, coxa vara,
flattening of the vertebral corpuses, scoliosis, and cleft
palate. Although os odontoideum was found in all reported
individuals with SEDC, only 35% to 60% of them had
atlanto-axial instability (Gembun et al., 2001). It was
reported that all SEDC-diagnosed individuals with spinal
canals #10 mm diameter in the sagittal plane may develop
symptoms related to thespinalcord (Nakamura etal.,1998).
Dr. Isik is Assistant Professor, Department of Plastic and Reconstruc-
tive Surgery; Dr. Guner is Assistant Professor, Department of Orthopedic
Surgery; Dr. Avcu is Assistant Professor, Department of Radiology; Dr.
Goktas is Assistant Professor, Department of Anesthesiology; and
Dr. Atik is Associate Professor and Head, Department of Plastic and
Reconstructive Surgery, Medicine School of Yuzuncu Yil University,
Van, Turkey.
This case was presented as a poster at the 31st National Plastic Surgery
Congress, October 17–21, 2009, Adana, Turkey.
Submitted November 2009; Accepted August 2010.
Address correspondence to: Dr. Daghan Isik, Yuzuncu Yil Universitesi
Tip Fakultesi, Plastik Cerrahi Anabilim Dalı, Maras Caddesi 65100, Van,
Turkey. E-mail daghanmd@yahoo.co.uk.
DOI: 10.1597/09-239
773

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Tofield and Mackinnon (2003) suggested using a Ferno
vacuum splint for neck stability of a patient with SEDC
during the operation to repair the cleft palate. In the
current report, cushions filled with silicone gel that could be
found easily in every operating room were used to
immobilize the patient’s neck, and intubation of the patient
was completed without head extension following the
visualization of the patient’s vocal cords with laryngoscope.
If vocal cords of the patient have not been seen or if the
neck extension is needed for intubation, a fiberoptic
bronchoscope can be used for a safe intubation in patients
with SEDC. In children, because the distance between lips
FIGURE 2The patient’s appearance.
FIGURE 3Lateral and anteroposterior x-rays of the trunk.
FIGURE 1The preoperative appearance of the incomplete cleft palate.
FIGURE 4
resonance imaging.
Stenosis due to atlanto-axial instability in magnetic
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and vocal cords is not great, the possibilities of easily seeing
the vocal cords and intubating without extending the
patient’s head are increased. Thereby, special equipment is
not needed for intubation of patients with SEDC.
Gembun et al. (2001) resolved the atlanto-axial disloca-
tion in an adult patient with signs of spinal cord
compression by using an iliac bone graft. However, the
patient’s neurological sequelae had partly reversed. They
reported in the same article that after having reviewed all
the literature, including reports in Japanese, there were
signs of spinal cord compression due to trauma in five out
of eight adult patients with the diagnosis of SEDC.
Nakamura et al. (1998) noted that myelopathy developed
in 6 out of 16 patients with SEDC. Park et al. (2001)
reported that flexion, and not extension, carries the risk for
paraplegia in patients with SEDC and therefore, palato-
plasty can be performed safely in these patients because
flexion is not applied. However, the odontoid process of the
axis is on the ventral side and does not allow the atlas to be
displaced backward. If there is hypoplasia in the odontoid
process, the atlas is displaced to the posterior when the
head is in extension (not flexion) and compresses the spinal
cord. Due to this anatomical characteristic of the atlanto-
axial joint, Park’s thesis does not seem to be a realistic
speculation. However, supporting the patient’s head for
only the hyperextended position in surgery may include
risks for patients with SEDC. In the literature, there are no
data about positions or maneuvers relevant to the
narrowing of the spinal canal in the patients with SEDC
who have symptoms of spinal compression. So, we do
believe that supporting the patients from all directions
during surgery may prevent important complications such
as tetraplegia, tetraparesia, and myopathy. Radiological
examinations are very important for detection and treat-
ment of the extremity anomalies. Although x-ray is used for
diagnosis and follow-up of skeletal anomalies in patients
with SEDC (Givon et al., 1999; Trigui et al., 2008), MRI
should be used for scanning of narrowing of the vertebral
canal (Miyoshi et al., 2004). Specifically, an early surgery
may be required for the patients who had areas in the spinal
canal narrower than 10 mm before the emergence of the
spinal compression symptoms. For this reason, MRI is a
very important examination tool for detection of the
prognoses of these patients.
The most serious consideration during anesthesia in
patients with cleft palate is the complications due to spinal
cord compression related to C1-C2 subluxation (Mogera
and Muralidhar, 1996; Tofield and Mackinnon, 2003).
There is the potential risk of paraplegia or death as a result
of this compression. Therefore, flexion, extension, or
rotation of the neck in patients with SEDC should be
limited during intubation and operation for any cause
(Mogera and Muralidhar, 1996; Gembun et al., 2001;
Tofield and Mackinnon, 2003).
Dwarfism and cleft palate are common congenital
disorders. In a patient with dwarfism who presents with a
cleft palate, the diagnosis of SEDC and tetraplegia should
be considered. Otherwise, the common and well-known
operation for cleft palate by plastic surgeons may result in
tetraplegia or even death.
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