Trichorhinophalangeal syndrome (TRPS) is a genetic disorder that may pose anesthetic challenges. We present a case of airway management for urgent surgery in a 56-year-old female with TRPS and difficult airway (macroglossia, narrow glottic opening, and hypoplastic epiglottis). Intubation was successful with video laryngoscopy using a size 2.5 pediatric blade and size 5.0 endotracheal tube. During emergence, she experienced bronchospasm and persistent urosepsis, necessitating intensive care unit (ICU) admission. Her pulmonary reserve was hindered by a Morgagni hernia causing lung compression. Our case demonstrates challenges in TRPS including challenging airway, decreased pulmonary reserve, and joint laxity introducing potential for spinal cord injury.
Trichorhinophalangeal syndrome (TRPS) is a genetic disorder characterized by the classic triad of craniofacial, skeletal, and hair abnormalities and encompasses three subtypes (TRPS I, II, and III). Characteristic facial features include large nose with a broad ridge, underdeveloped alae, and broad eyebrows, while skeletal features include short stature, brachydactyly, and hip dysplasia [
A 56-year-old female presented to the emergency department with acute-onset vomiting and severe left-sided flank pain. She reported a history of TRPS, non-ST-elevation myocardial infarction secondary to spontaneous coronary artery dissection, and reactive airway disease. While no genetic records were available characterizing her diagnosis of TRPS, she reported symptoms of “weak joints, hair loss, arthritis, and weak nails.” Surgical history included a caesarean section, hysterectomy, appendectomy, and cholecystectomy, which were uneventful. Current medications included inhaled albuterol and inhaled beclomethasone. She denied drug allergies. On examination, she was afebrile, tachycardic (129 beats/minute), tachypneic (24 breaths/minute), and had a blood pressure of 133/89 mmHg.
Complete blood count revealed mild leukocytosis (12.5 × 10^9/L). Urinalysis revealed pyuria, hemoglobinuria, proteinuria, hyaline casts, and bacteriuria, with Gram stain showing many Gram-negative bacilli. Computed tomography (CT) of the abdomen/pelvis revealed a 6 mm left ureteropelvic junction stone with hydronephrosis (Figure
Axial (a) and coronal (b) views of CT (computed tomography) thorax, abdomen, and pelvis which revealed 6 mm left obstructing ureterolithiasis with hydronephrosis, as well as incidentally noted large 13 cm heterogeneous mass within the pelvis resulting in distortion of local structures. Additionally visualized was a large Morgagni hernia containing a large majority of the small bowel, the transverse colon, a portion of the descending colon, and a portion of the stomach with significant adjacent atelectasis of right lower lung lobe.
Preanesthesia evaluation revealed an apprehensive patient with a history of severe anxiety and patient-reported history of “difficult airway” without additional available details or outside medical records elaborating on the nature of airway difficulty. The patient reported having required a “pediatric intubation set” previously. Last oral intake was three hours prior to presentation consisting of a large fatty meal. Examination revealed a female of short stature (149 cm), with a weight of 60 kg and body mass index of 27 kg/m2. Facial features were notable for retrognathia, microstomia, and Mallampati II. Lung auscultation revealed diffuse bilateral expiratory wheezes. Frequent rescue inhaler use was reported. Functional status was reassuring, with the patient achieving >4 metabolic equivalents daily.
The patient was unable and unwilling to tolerate awake fiber optic intubation due to her anxiety. Given the urgency of the procedure in the setting of evolving sepsis with intra-abdominal source and after full discussion of the associated risks, she was taken to the operating room with difficult airway precautions. She underwent preoperative pulmonary optimization with inhaled albuterol. Oral sodium citrate solution was ordered given aspiration risk but attempts at intake resulted in emesis. Peripheral intravenous access was established. She underwent rapid sequence induction (RSI) with manual in-line stabilization and cricoid pressure with 50 mcg fentanyl, 100 mg lidocaine, 60 mg propofol, and 70 mg succinylcholine. Initial attempt at intubation proceeded with a 3.0 video laryngoscope blade (GlideScope) and size 5.0 endotracheal tube (ETT), but ETT could not be advanced past the large blade despite a grade 1 Cormack–Lehane view. Airway was notable for macroglossia, a very narrow glottic opening, and mildly hypoplastic epiglottis. Subsequent attempt with a size 2.5 video laryngoscope blade and size 5.0 endotracheal tube was successful and atraumatic. Given full-stomach, the patient was not bag-mask ventilated between intubation attempts. Emergency rescue airway equipment was readily available including laryngeal mask airway, fiber optic scope, and cricothyrotomy kit. General anesthesia was maintained with inhaled sevoflurane and intravenous propofol infusion.
The procedure was completed uneventfully, and the anesthetic was lightened for planned extubation. However, the patient developed elevated peak pressures (>40 cm H20), became hypercapnic (end-tidal carbon dioxide (ETCO2) 56 mm Hg), and experienced a brief desaturation event to SpO2 36%. There was difficulty with ventilation and the patient was resedated, paralyzed, and given inhaled bronchodilators with improvement in ventilation and oxygenation. After improvement in bronchospasm, decision was made to transfer the patient to ICU due to reduced pulmonary reserve and ongoing urosepsis. At this time, peak pressures remained >30 cmH20, while on FiO2 of 50% on continuous mandatory ventilation-volume control and tidal volume of 300 cc. Chest X-ray revealed an appropriately positioned endotracheal tube (Figure
Chest X-ray revealing large right Morgagni hernia containing fat and several loops of small bowel. Associated right lung volume loss and atelectasis.
We present the challenging case of a patient with TRPS and difficult airway who presented for urgent surgery. She was successfully intubated but experienced intraoperative bronchospasm, requiring prolonged intubation and unanticipated admission to the intensive care unit (ICU).
Our preanesthetic evaluation revealed retrognathia, microstomia, and a history of difficult airway. These physical exam characteristics are consistent with prior reports of patients with TRPS [
The use of nondepolarizing muscle relaxant was not considered in this case, as a reversal agent, i.e., sugammadex (which could potentially be required in the setting of a cannot-intubate-cannot-ventilate situation), was not available at our institution at the time. Fentanyl, though not typically employed in RSI, was used at induction to minimize hemodynamic shifts in anticipation of possible repeated attempts at securing the airway.
Preinduction, given aspiration risk, consideration was made for use of the prokinetic agent metoclopramide, but in the setting of a known large Morgagni hernia, we felt the benefits did not outweigh the risk of potential visceral strangulation or incarceration. We elected to pursue the use of nonparticulate oral sodium citrate, but unfortunately the patient was unable to tolerate this and developed further nausea and vomiting. Manual in-line stabilization was performed because of potential presence of cervical spine hypermobility and laxity in TRPS introducing the theoretical risk for cervical spinal cord injury [
During emergence, the patient experienced desaturation with elevated ETCO2 and peak pressures, presumably due to bronchospasm. Predisposing factors included a history of asthma, active smoking, preoperative examination revealing expiratory wheezes, airflow resistance through a smaller endotracheal tube, and suboptimal oxygen utilization from urosepsis. While our patient was afebrile and denied a cough, studies have reported frequent respiratory infections in TRPS, a predilection which is only further exacerbated given her history of chronic tobacco use [
We speculate the subtype of TRPS that characterized our patient’s phenotype. While this is a diagnosis confirmed with genetic mutation analysis, our patient did not have genetic records available. The authors believe that type II TRPS, also known as Langer–Giedion syndrome, likely characterized this patient’s phenotype. Type II TRPS is secondary to 8q24.11 microdeletion [
A review of the literature revealed two published reports of airway management in patients with TRPS—an 8-year-old male with TRPS II in whom a supraglottic airway was successful [
In summary, we present a case of TRPS with successful RSI and intubation of an adult female using video laryngoscopy. She experienced bronchospasm postoperatively necessitating ICU admission. Her baseline anatomy related to TRPS requiring smaller-sized endotracheal tube in conjunction with asthma and pulmonary atelectasis in the setting of a large diaphragmatic hernia resulted in desaturation and difficulty with ventilation. This case demonstrates the role of a decreased baseline pulmonary reserve in patients diagnosed with TRPS, as well as other potential anesthetic challenges related to hypermobility and laxity introducing potential for spinal cord injury, anemia increasing risk for reduced oxygen delivery, and excessive skin impeding intravenous access.
No data were used to support this study.
The authors have no potential conflicts of interest to disclose.