Keywords:
22 q 11.2 deletion syndrome, multidisciplinary team approach,
perioperative management.
Introduction
22 q 11.2 deletion syndrome (22 q 11.2 DS) is a genetic disease that is
often complicated by psychiatric disorders such as intellectual
disability, autism spectrum disorder, attention-deficit/hyperactivity
disorder, and schizophrenia in addition to physical diseases such as
congenital heart disease, palate hypoplasia, and immunodeficiency. This
syndrome is said to be the most common of the chromosomal microdeletion
syndromes, and a recent Danish cohort study reported that 1 in 3672
people developed it1. Although the prognosis has been
said to be poor, the adult population with 22 q 11.2 DS is increasing
due to advances in pediatric care2.
Acceptable standard care for individuals with 22 q 11.2 DS is a careful
coordination and multidisciplinary team approach that provides access to
medical services throughout their life cycle3. In this
report, we successfully collaborated in the perioperative management of
oral surgery in an adult 22 q 11.2 DS patient with multiple physical
diseases and schizophrenia.
Case Report
The patient was a 24-year-old woman. Anal atresia and cleft palate were
found at birth, and the patient
took a genetic test and was diagnosed with 22 q 11.2 DS. At one month
after birth, the patient was diagnosed as having aortic stenosis due to
bicuspid aortic valve in the pediatric cardiology department. The
patient was placed under observation, and general exercise restrictions
were not necessary, but sports club activities were prohibited. The
patient underwent palatoplasty at the age of 1 year and 6 months, and
orthodontic treatment from the age of 9 to 20 years with a diagnosis of
dental stenosis. At the age of 20, the patient got married and gave
birth.
At the age of 22, the patient was
diagnosed with schizophrenia due to the patient’s hallucination and
delusion and was admitted to a psychiatric hospital for 10 months. The
symptoms have improved by taking antipsychotic drug and modified
electroconvulsive therapy. After being discharged from the hospital,
the patient noticed toothache and was referred to our hospital by
another dental clinic.
The patient was 148 cm tall,
weighed 41 kg, and had a blood pressure of 110/70 mmHg at the time of
medical examination. There were no other problems with blood tests or
electrocardiograms.
Extraoral findings of the patient showed microtia, micromandibula,
micronostrils, micrognathia and trismus. The intraoral findings showed
that 15, 17, 28, 34, 42, 43, 45, 46, 48 (Fédération Dentaire
Internationale: FDI) were in a residual root state. The patient’s oral
hygiene status was extremely poor. Panoramic radiographs showed the
apices of 11, 45, 46 (FDI) with round radiolucent images suggesting
apical lesions (Figure). We
planned to extract 10 teeth, specifically (11, 15, 17, 28, 34, 42, 43,
45, 46, 48 (FDI) ). The risk of the procedure itself was low, but the
risks arising from complications of 22 q 11.2 DS were a concern.
The severity of aortic stenosis was unknown because the patient
interrupted the periodic medical examination by self-judgement at the
age of 20. We contacted the pediatric cardiologist and obtained the
general anesthesia records of this patient’s maternal delivery by
cesarean section three years ago.
Echocardiography at the department of cardiology of our hospital showed
a pressure gradient between the left ventricle and the aorta of 20 mmHg.
The severity of aortic stenosis was judged to be mild. Although there
were no problems with cardiac function, the patient was at risk for
infective endocarditis, and 2 g of ampicillin was prepared.
The dental anesthesiologist diagnosed the patient as having difficult
intubation due to micrognathia and severe trismus and judged that
conscious fiberscope-guided intubation under mild sedation was also
impossible because the patient’s psychiatric symptoms were unstable.
After induction of general anesthesia, the dental anesthesiologist
administered 30 mg of rocuronium, a muscle relaxant, and performed
nasotracheal intubation under fiber scope guidance. We explained the
risks of anesthesia to the patient and the patient’s family in advance
and obtained their consent in writing.
The following risks information were provided by the attending
psychiatrist: 1) discontinuation of psychotropic drugs may aggravate
schizophrenia; 2) examination by an oral surgeon may increase anxiety
and irritation; and 3) interactions between antipsychotics and
epinephrine contained in the local anesthetics may occur. Therefore, the
administration of psychotropic drugs was continued even on the night
before the operation, the preoperative examination by the oral surgeon
was shortened, and the local anesthetic for surgery was prepared as
ferripressin-containing propitocaine hydrochloride without epinephrine.
The above risks were shared by a multidisciplinary team including oral
surgeons, dental anesthesiologists, psychiatrists, cardiologists, nurses
and social workers. We extracted 10 teeth as scheduled. The day after
the operation, we transferred the patient to the psychiatric hospital
where the patient had been hospitalized. One week later, the patient had
good progress and we completed the collaboration of perioperative
management.
Discussion
The course of this patient provides the following important clinical
suggestions. Since the symptoms
and severity of 22 q 11.2 DS vary widely among individuals,
multidisciplinary medical collaboration is necessary for perioperative
management.
Frequent comorbidities of 22 q 11.2 DS are multidisciplinary, including
cardiac anomalies (49-83%), palatal anomalies (69-100%), dental
skeletal anomalies (40-50%), hypocalcemia (17-60%), schizophrenia
(6-30%) and attention-deficit/hyperactivity disorder
(25%)4.
Life-threatening complications
include congenital heart disease and the most common one is tetralogy of
Fallot (20-45%)5.
Congenital heart disease adds to
the complexity associated with acquired cardiovascular problems and
multiorgan comorbidities, and requires perioperative management that
considers immune dysfunction, thrombocytopenia and
hypocalcemia5.
This patient had no tetralogy of Fallot but aortic stenosis. Aortic
stenosis is a rare complication of 22 q 11.2 DS5, but
as it is a risk group for infective endocarditis. Therefore, antibiotic
ampicillin was administered prophylactically. Because the severity of
aortic stenosis was unknown, the risk for general anesthesia was also
unknown. Through the medical cooperation system, general anesthesia
records of the recent cesarean section and modified electroconvulsive
therapy were received from the pediatric cardiologist and the
psychiatrist.
In generally, physicians have trouble dealing with patients with
psychiatric disorders, while psychiatrists have trouble dealing with
patients with physical illness. Perioperative management of oral surgery
for patients with schizophrenia requires a history of psychiatric
treatment, assessment of psychotic symptoms and consideration of the
duration of psychotropic drug withdrawal to control schizophrenic
symptoms6,7. This case was also coordinated to be
transferred to the psychiatric hospital where the psychiatrist worked
the day after the operation in accordance with the risk information
obtained from the psychiatrist.
In 22 q 11.2 DS, a high rate of palatal hypoplasia is observed, and it
is necessary to devise measures for difficult intubation. We decided
that it would be difficult to intubate this patient due to micrognathia
and trismus. The patient had experienced general anesthesia in the past.
At that time oral intubation by laryngeal mask was performed, because
the operative field was not the oral cavity. We finally chose
nasofiberscope-guided intubation after induction of general anesthesia.
In patients with 22 q 11.2 DS, general anesthesia or intravenous
sedation has been used for dental treatment8. However,
there have been no previous reports of fiberscope-guided nasal
intubation after induction of general anesthesia. Our team responded
flexibly to risks with our own ideas, using precedents as a guide.
We experienced an adult patient with 22 q 11.2 DS in whom a
multidisciplinary team approach was effective in collaboration of
perioperative management. In the future, it is expected that the number
of adult patients with 22 q 11.2 DS who require oral surgery under
general anesthesia with multiple risks will increase as in this case.
Since the symptoms and severity of 22 q 11.2 DS vary widely among
individuals, it is suggested that accumulation of individual
perioperative management reports may be clinically useful in the future.
Conclusion
We experienced an adult patient with 22 q 11.2 DS who needed to extract
teeth. Through our experience with this case, we conclued that a
multidisciplinary team approach is important for perioperative
management of adult patient with 22 q 11.2 DS.