Ectrodactyly-ectodermal dysplasia-cleft lip and palate (EEC) syndrome is a rare congenital disease with a prevalence of approximately 1 in 18,000 newborns. The clinical manifestations involve ectrodactyly or split hand/foot malformation and are a rare congenital limb disorder autosomal dominant form of multiple congenital anomalies and cleft lip and/or palate, as well as abnormalities of the eyes. Maxillary hypoplasia, broad nasal tip, and philtrum of the upper lip are also common features. In this case, the patient had an atrial septal defect (ASD). Therefore, anesthetic concerns were not only airway management and eyes protection but also hemodynamics condition.
The patient was a 6-month-old girl, 73.0 cm in height, and 8.1 kg in weight. Cheiloplasty for cleft lip was performed under general anesthesia. She had ectrodactyly in the hand and foot [Figure 1]. Additionally, she was born with cleft lip and palate and ASD with pulmonary hypertension (PH) due to mitral valve prolapse. She had received ASD closure at 3 months old. Preoperative echocardiography revealed a small ASD and mild PH. She had no eye complications.
Anesthesia was induced with inhalation of sevoflurane after monitoring of heart rate (HR) (120-130 bpm) was started. Mask ventilation was easy. Anesthesia was administered with atropine, fentanyl, and rocuronium were induced after IV access was obtained. In addition, electrocardiogram: sinus rhythm, BP: 105/75 mmHg, stroke volume (SV): 9.6 mL, stroke volume variation (SVV): 16%, and cardiac output (CO): 1.2 L/min were also monitored by using Aesculon mini®. Direct laryngoscope with a Macintosh #1 laryngoscope revealed a Class II view of the glottic opening at Cormack classification. At the first trial of orotracheal intubation, a 4.0 uncuffed preformed orotracheal Ring-Adair-Elwyn (RAE) tube did not advance through the vocal code due to the narrow space at the vocal code. In addition, we could not confirm air leakage around a tracheal tube by manually applying positive airway pressure of 40 cmH2O air leak in a 4.0 and 3.5 mm tube. Then, a 3.0 mm tube was intubated by using Pentax Airway Scope (Pentax-AWS). The eyes were protected with ointment. Anesthesia was maintained with sevoflurane, fentanyl, and remifentanil. Hemodynamics were maintained stable; BP (82-112/37-64 mmHg), HR (120-150 bpm), SpO2(98-100%), SV (9.7-12.2 mL), SVV (9-11%), and CO (1.1-1.2 L/min). The operation was completed in 207 min without any anesthetic problems. After general anesthesia her respiratory and hemodynamic conditions were stable.
In this case, the anesthetic consideration can be mentioned as follows: airway management, eyes protection, and hemodynamics condition.
The difficult airway is most likely in patients with associated craniofacial syndromes. The induction of anesthesia must be planned very carefully to maintain spontaneous ventilation and adequate anesthesia while attempts at intubation proceed by whatever means are available for oral and nasal airway, laryngeal mask airways, and video laryngoscope. It is known that the unexpected tracheal tube size might occur in patients with the craniofacial syndrome. The appropriate tube sizes of the tracheal tube for children have been investigated. However, formulae such as age and X-ray have been recognized to be inaccurate in children. In this case, although uncuffed 4.0 mm orotracheal RAE tube was selected with reference to X-ray, this tube was not inserted into the trachea. Therefore, uncuffed 3.0 mm orotracheal RAE tube was intubated using Pentax- AWS. She might be narrowed subglottic or tracheal airway compared to healthy patients.
Patients can have various combinations of ocular pathology ranging from dry eyes and lacrimal duct anomalies. Intraoperative eyes protection is essential, and they were protected with ointment.
Congenital heart disease is rarely associated with EEC syndrome. Then, careful monitoring of hemodynamics is critical, for example, central venous pressure or cardiac output. However, these would be considered a more invasive procedure compared to the procedure of cheiloplasty. Anesthetic agents and hemodynamic responses to them may cause significant circulatory disturbances. Therefore, anesthetic management based on adequate non-invasive cardiac function monitoring was used. Cardiac function was monitored by Aesculon mini®, a non-invasive cardiac function monitor using the electrical velocimetry method [Figure 2]. In addition, we carefully administered anesthetics with titration.
In EEC syndrome, stable hemodynamics condition using non-invasive monitoring was important as well as airway management and eyes protection during general anesthesia.
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