| Japanese Journal of Clinical Oncology | Pages |
Difficult Tracheal Intubation in Patients with Retinoblastoma Caused by 13q Deficiency
Introduction
Case Reports
Case 1 (S.Y.)
Case 2 (K.H.)
Review
Discussion
References
Difficult Tracheal Intubation in Patients with Retinoblastoma Caused by 13q Deficiency
Introduction
Retinoblastoma occurs with a frequency of one case in 17 000-34 000 live births in the USA (1) and one case in 15 000-23 000 live births in Japan (2,3). If the tumor is left untreated, patients will die within a few years by metastases. If distant metastases can be demonstrated, the disease is usually fatal (4). However, retinoblastoma (rbl) can now be treated successfully enough to preserve both life and vision when the intraocular malignant tumor is diagnosed early. The prognosis in Japan is favorable as 5-year survival has reached 90%. The treatment aims to preserve the patients' vision under the condition that their life remains safe.
The current treatment for rbl is enucleation or eye-preserving therapy using photocoagulation, cryocoagulation, external radiation, brachytherapy and chemotherapy (5). For these surgical treatments of the young patients, immobilization with general anesthesia is required. During such an anesthetic procedure, we recently experienced two cases with rbl with whom tracheal intubation was accomplished with difficulty.
Case Reports
Case 1 (S.Y.)
A 12-month-old male was diagnosed as having bilateral rbl (first left side rbl was discovered). His genetic examination showed 13q deficiency (q13q22 on q12q21). For treatment with photocoagulation the patient was scheduled for general anesthesia. In the patient's history he was born at full term at 2925 g. His birth was uneventful except for being a small baby. His mother was concerned at 4 months old because he did not grow properly. He had disturbance in deglutition movement and had dysphagia. At our pre-anesthetic evaluation we found him to be suffering from active asthma as a complication. However, we could not recognize any sign of difficult intubation for him because he did not have a small jaw, impaired movement in his mandibular joint or abnormal shape around his larynx.
To induce general anesthesia we chose slow induction. During deepening of the anesthesia with sevoflurane, when his spontaneous respiration disappeared, we could still control ventilation. However, for tracheal intubation we failed three times. His tracheal orifice could not be seen because the protrusion of his tongue blocked our view of his tracheal orifice (Cormack's grade IV) (6). At the fourth attempt we were able to intubate the trachea with a tube using a stylet after we set a high pillow under his shoulder. During the sequence of attempts at the intubation the lowest saturation was around 70%. The rest of the anesthesia and surgery was uneventful. The tube was withdrawn after his definite emergence from anesthesia. After this event, whenever an anesthetic process was required for him, the same anesthetists were in charge of him. Repeats of photocoagulation and cryocoagulation thermotherapy, thermochemotherapy and enucleation of one eyeball were applied to the patient without any anesthetic problem. He is now a 3-year-old child and has come to see an ophthalmologist ambulatorily every 6 months without any sign of recurrence of rbl.
Case 2 (K.H.)
A 4-month-old male was diagnosed as having bilateral rbls. His genetic examination showed that he had 13q deficiency (13q-). For treatment with photocoagulation the patient was scheduled for general anesthesia. In the patient's history he was born at 39 weeks at 3518 g. His birth was uneventful except that his mother had had temporary anemia and toxemia during her pregnancy. His mother found his rbl shortly after his birth because she observed the baby's pupils to be unequal. In the pre-anesthetic evaluation no difficult airway management was suspected by the anesthetist in charge (Fig. 1).
Figure 1. The patient's face (case 2). Although he shows external strabism and possible asymmetry, we did not suspect any cannot ventilate-cannot intubate situation. To induce general anesthesia we chose slow induction. During deepening of the anesthesia with isoflurane, we experienced difficulty with the free airway. His airway was hardly manageable and his oxygen saturation gradually decreased. To keep the airway clear in the safest way possible we decided to intubate before the injection of vecuronium. Two attempts at tracheal intubation failed. The view of the tracheal opening was blocked by the protrusion of his large tongue (Cormack's grade IV) (6). Because we recognized that the case was coming to a level of cannot ventilate-cannot intubate, we lightened the anesthesia to restore his autonomic respiration (7). Meanwhile the lowest value in the saturation monitor showed 65%. After the restoration of his respiration his saturation value recovered to >90%. We inserted a stomach tube to ensure voidance of his gastric juices. With his autonomic respiration we made another attempt at intubation with a stylet, which was successful. The photocoagulation and the rest of anesthesia were uneventful. The tube was extubated after we confirmed the patient's definite emergence. The patient was discharged home the next day without any further incidence. Figure 2 shows the MRI view of his oral and pharyngeal cavity. The view proved that he had a large tongue, split soft palate, deep and high vault of the palate and low position of the orifice of the trachea. The anatomical relation implied a possible difficult intubation. Figure 2. MRI view of case 2. A disproportionately large tongue is noted in comparison with the oral cavity. We examined the treatment records of 158 children at the National Cancer Center Hospital. These were all patients treated for rbls over 5 years including the above two. A high-resolution chromosome analysis proved deletions on the thirteenth chromosome in 11 children. The anesthetic records of the 154 patients showed that tracheal intubations were easy. The other four patients showed difficult intubation (Table 1). All four cases were included in the group with 13q- (P < 0.05). The patients' records over 5 years indicated that some patients in the group with 13q- are subject to difficult intubation. Table 1. Retinoblastoma (rbl) is a tumor which develops in patients with an abnormality in chromosome 13. In 1971, Knudsen (8) hypothesized that the clinical expression of rbl was the result of a minimum of two mutational events. This hypothesis has been proved. In each patient who has rbl, the initial mutation of the rbl gene occurs in either the retinal/somatic cell or the germinal cell. This mutation inactivates one copy of the gene. The mutation can result from a change in a base of DNA, a point mutation, a chromosomal translocation that disrupts a copy of the gene or a small or large deletion of the chromosome (9,10). Normal `complete' chromosome 13 has an influence on the dividing cells of the retina and modulates the cell division so that rbl does not develop. In rbl, however, there is a disruption in the long arm of the q14 band of chromosome 13, so that the cells of the retina continue to divide uncontrollably. When the initial mutation occurs solely in chromosome 13 of the retinal cells, the rbl is non-hereditary and non-familial. In the case of non-hereditary rbl, the lesion is usually unilateral. The loss of the second copy of the gene is always somatic and occurs in the retinal cell that is responsible for development of the tumor (11). When it occurs in germ cells, the tumor develops bilaterally, the disease is more generalized and the onset of the disease is earlier than in non-hereditary cases. In such cases rbl is hereditary in the recessive fashion (12). Chromosome analysis by leucocytes can detect the deficiency when it is pronounced enough; 3% of rbl shows deficiency in high-resolution chromosome analysis (13). The hereditary cases of rbl may be accompanied by 13q syndrome, which has several developmental disorders (14). It is the 13q deletion syndrome (15). The phenotypic abnormalities are as follows, although the severity varies: microcephaly, broad nasal bridge, hypertelorism, micrognathia, short neck with lateral folds, large prominent low-set ears, facial asymmetry, genital malformations and psychomotor and mental retardation (16). Although we did not recognize the 13q syndrome at our pre-anesthetic examination and did not expect any difficulty in anesthetic management, we experienced difficult intubation in two patients in 3 years. The two patients showed 13q- and we observed macroglossia. One of the two cases had gone as far as the cannot ventilate-cannot intubate stage, incurring a dangerous process for anesthetic intubation. Therefore, even though we do not recognize the 13q syndrome, we can speculate that there would be difficulty in intubation by macroglossia in some patients with 13q-. In our 5-year record another two cases were reported as having difficult intubation in rbl. These were both patients with 13q-. The anesthetists noted macroglossia as an obstacle to intubation in each case. We suspect that the 13q- may produce disproportionate organs in the cranial region as does the 13q syndrome, although the severity is different. The two patients received a sequence of surgical interventions and anesthesia later; their anesthetic records revealed that difficulty in intubation was not experienced at the later time. We found that the intubation became less difficult as the children grew older. In each case with 13q- the difficulty was experienced when the patients were around 1 year old. In our first case (S.Y.) we noticed that management of the intubation was easy when the patient became older. Therefore, the difficult intubations were a temporary phenomenon in their history. We speculate that macroglossia becomes less remarkable when the other parts of the face grow bigger. To our knowledge, this is the first report of difficult intubation in patients with rbl (17). Because all the patients with whom we encountered difficult intubation had rbl with 13q-, anesthetists should be careful with intubation when the chromosome analysis shows deletion in the thirteenth chromosome.
Review
Retinoblastoma with 13q-
Retinoblastoma without 13q-
Number of patients
11
147
Number with difficult intubation
4
0
DISCUSSION
References
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Last modification: 19 Aug 1998
Copyright©Japanese Journal of Clinical Oncology, 1998.
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