the patient was a 10 year - old boy with a height of 128 cm and a weight of 36 kg who complained of pain in the right lower abdomen .
he was diagnosed with appendicitis , and it was decided to do an appendectomy . he had been diagnosed with grade 3 mental retardation at age 4 although an exact diagnosis was not possible because a dna test was not done .
however , the parents were planning for a second child and had a dna test done in england when the patient was 10 and confirmed an 8p23 deletion . according to the past history
, there were no abnormalities that accompanied the genetic disorder such as asthma , and dna tests were done on the parents for a family history but all were normal . based on the physical exam ,
the patient exhibited the characteristic facial features of microcephaly with a broad nasal bridge , short neck , and high arched palate . according to the airway examination ,
the interincisional distance was approximately 3 cm and the thyromental distance was approximately 5 cm when the mouth was opened at its widest maximum .
the mallampati airway classification was grade 3 and difficulty in intubation was predicted ; there were no limitations in neck movement and there were no loose teeth but they were irregular . in an echocardiography conducted at another hospital , the patient had no heart problems that can accompany 50% of the people with deletion 8p23 syndrome , and there were no indication of ebstein 's malformation and tof .
no abnormalities were found in the blood tests or computed tomography ( ct ) done before surgery .
the patient exhibited severe mental retardation and although simple communication was possible , he was not able to use language properly .
the patient responded impulsively and showed destructive and aggressive behavior characteristic to this syndrome when moving to the operating bed such as pulling hair and kicking with his feet .
blood pressure before anesthesia was 125/70 mmhg ; heart rate was 115 beats / min ; oxygen saturation was at 100% , and the ecg was normal . in the emergency room before coming up to the operating room , a 22 g intravenous access was prepared on the right upper extremity but no medication before anesthesia was administered .
as intubation was predicted to be difficult , a video glidescope was additionally prepared as well as a mccoy laryngoscope . before proceeding with anesthesia , preoxygenation
50 g of fentanyl and 150 mg of pentothal sodium was iv injected and mask ventilation was started with 4.0 vol% sevoflurane and 100% oxygen . after checking that the mask ventilation was operating properly , 30 mg rocuronium bromide was administered for rapid sequence intubation while sellick 's maneuver was done due to the risk of respiratory aspiration . after a minute , proper muscle relaxation was verified and the glottis were exposed using a macintosh laryngoscope .
grade 3 in cormack and lehane airway classification was confirmed , and although intubation of an endotracheal tube with 6.5 mm envelope was attempted , it was unsuccessful so the video glidescope was used to carefully intubate an endotracheal tube with inserted stylet . directly after intubation , blood pressure was 130/88 mmhg ; heart rate was 100 beats / min , and oxygen saturation was at 100% .
mechanical ventilation was started with volume controlled ventilation with a 400 ml tidal volume and a respiratory rate of 15/min , while maintaining anesthesia with 50% oxygen / n2o and 1.0 - 2.0 vol% of sevoflurane .
the operation lasted a total of 1 hour and 35 minutes and 200 ml of ringer 's lactate solution was supplied .
there were no abnormalities during surgery and after the surgery had finished , 7.5 mg of pyridostigmine and 0.3 mg of glycopyrrolate was iv injected to contend with muscle relaxation .
spontaneous respiration was induced to confirm stable respiration . after confirming that the tidal volume was more than 5 ml / kg
, the patient responded to the command to open his eyes , which indicated that he was awake .
then , extubation was done , followed by 100% oxygen through a mask while checking the recovery of consciousness and muscle motility .
respiration was regular in the recovery room but the patient displayed excessive behavior and impulsive responses shown before the anesthesia so 4 mg of nalbupine was iv injected and he was stabilized .
deletion 8p syndrome is a very rare congenital disease with characteristic cardiac malformation , mental retardation , craniofacial anomalies , malformations of the digestive system , and neural developmental abnormalities .
it was first detailed in 1973 , and deletion 8p23 was first detailed in 1988 .
large terminal deletions can be discovered through basic chromosome testing but the latest molecular biological methods such as fluorescence in situ testing ( fish testing ) or array comparative genomic hybridization ( array cgh ) need to be used to discover or confirm small interstitial deletions .
the frequency of 8p23 deletion syndrome is equal regardless of gender and the age of the parents , and it appears as either a first occurrence in one family ( de novo ) or through familial translocation .
there are cases where a parent has the 8p deletion but their children have no abnormalities , or parents have no deletion but the children develop problems .
deletion 8p syndrome causes developmental delays in nearly all the organs in the body so it exhibits diverse clinical signs .
the most important and common symptom is cardiac malformations and mild to moderate intellectual disabilities and mental retardation . also , due to microcephaly , the size of the brain is smaller which can lead to more problems , and there are common reports of behavioral abnormalities such as excessive behavior , impulsive responses , and attention deficit .
destructive and aggressive behavior and abrupt changes in response are characteristic , and they express themselves to others through behaviors such as pulling hair , hitting , biting , and kicking with their feet . in boys , there could be cryptorchidism or hypospadia and they may need surgical correction .
hypotonia or hypertonia or a combination of these can occur in newborns ; in ophthalmology , there could be strabismus , myopia , or hyperopia but can be corrected with ordinary glasses , and serrated teeth form can occur .
it usually does not affect pregnancy but there is a high possibility of giving birth to small for gestational age ( sga ) or large for gestational age ( lga ) .
the points to be considered in general anesthesia of patients with deletion 8p syndrome is that intubation will be difficult because of facial features such as microcephaly , a high arched palate , cleft palate , high narrow forehead , broad nasal bridge , short neck , and a large tongue ; congenital diaphragmatic hernia occurs in 20 - 30% of people with this syndrome but can be corrected through surgery , and esophageal motility disorder which leads to frequent gastroesophageal reflux so there is a high risk of aspirating stomach content resulting in aspiration pneumonia when inducing anesthesia or during recovery .
therefore , the degree of difficulty in securing the patient 's airway should be checked beforehand , and the operator should be well - acquainted with the asa difficult airway algorithm .
cornelia de lange syndrome ( cdls ) caused by mutation of the nipbl ( nipped - b like ) gene located at chromosome 5p13 is very similar to deletion 8p syndrome and has difficulties in intubation due to characteristic facial features , poor esophageal motility , and congenital diaphragmatic hernia and is easily exposed to aspiration .
.   failed in achieving an orotracheal intubation of a 8 year - old cdls patient with a cleft palate and tof so they used a laryngeal mask and bronchofiberscope to intubate , and fernandez - garcia et al .  
also did not use muscle relaxants in the general anesthesia of a 11 year - old cdls patient considering the difficulties in intubation and maintaining airway but successfully conducted anesthesia by using a laryngeal mask .
conducted rapid sequence intubation using pentothal sodium and succinylcholine on a 9 year - old cdls patient undergoing surgery due to external injuries keeping in mind the possibility of aspiration and enterocleisis from malrotatio intestini . also in our case , there were no limitations in neck movement but intubation was anticipated to be difficult according to mallampati airway classification so video glidescope was prepared as well as a mccoy laryngoscope . in the first attempt ,
it was confirmed as a grade 3 cormack and lehane airway classification so a rapid sequence intubation using the video glidescope and sellick 's maneuver was done . a grade 3 cormack and lehane airway classification signifies that only the epiglottis is visible through proper use of the laryngoscope , and grade 4 is when no anatomical structure relevant to the airway but only soft tissue is visible .
pre - anesthetic evaluation of deletion 8p syndrome patients can be very difficult because severe mental retardation and uncooperative behavioral disorders can make accurate examination and tests difficult .
evaluation of cardiac function is essential in particular because there is the possibility of cardiac malformations .
accompanying cardiac malformation such as avsd , ps , and vsd , ebstein 's malformation , tof , and hypoplastic left heart syndrome ( hlhs ) can congenitally occur .
contended that from patients with deletion 8p23 syndrome , 75% of those with a terminal deletion and 94% of those with an interstitial deletion had cardiac malformation . in our case ,
an echocardiography was done as a pre - anesthetic evaluation to confirm that there were no cardiac malformations and cardiac output was also normal .
in addition , since excessive behavior , impulsive responses , lack of cooperation , and self - injurious behavior from mental retardation can accompany most patients with deletion 8p syndrome , general anesthesia is preferred rather than regional anesthesia and occurrence of agitation in the recovery room must also be carefully observed and prevented .
extubation is done after awakening because intubation is commonly difficult in patients with deletion 8p syndrome ; complications such as laryngospasm and coughing can emerge , and the risk of aspiration from gastroesophageal reflux is high . however if there is no evidence of gastroesophageal reflux and risk of aspiration in the pre - anesthetic evaluation , and intubation was not difficult , then extubation before awakening can be considered to reduce the excessive behavior and impulsive responses of the patient .
the patient in our case showed pain and agitation after post - awakening extubation , and was stabilized by iv injecting of nalbuphine . in conclusion
, there have been no anesthetic cases in korea of patients with deletion 8p syndrome and when a patient shows several characteristics mentioned here , pre - anesthetic evaluation of the patient such as assessing the degree of intubation difficulty according to facial deformities , cardiac malformation , and mental retardation must be thoroughly conducted to select a suitable method of anesthesia .
 a deletion 8p syndrome is a relatively uncommon congenital disease characterized by mental retardation associated with multiple malformation that make anesthetic management a challenge . 
 anesthetic management of a patient with deletion 8p syndrome may pose a serious problem mainly from difficult tracheal intubation , aspiration complication and cardiac malformation . 
 we experienced a case of 10 year - old boy with a deletion 8p syndrome who underwent appendectomy under the general anesthesia . 
 intubation was performed by video glidescope after unsuccessful attempt with macintosh laryngoscope . a high arched palate , short neck , poor patient cooperation due to mental retardation and occasional autistic behaviour made airway management difficult . 
 this case should alert anesthesiologists to the greater difficulties of managing patients with deletion 8p syndrome . 
Case Report
Discussion