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Management Challenges in an Infant With Pentalogy of Cantrell, Giant Anterior Encephalocele, and Craniofacial Anomalies: A Case Report

Hubbard, Richard MD*; Hayes, Seth MD*; Gillis, Holly MD; Lindsey, Spencer MD; Malhotra, Prashant MD, FAAP; Wani, Tariq MD*; Tobias, Joseph D. MD*; Beltran, Ralph MD*

doi: 10.1213/XAA.0000000000000793
Case Reports

Pentalogy of Cantrell is a rare syndrome consisting of midline abnormalities involving the heart, sternum, abdominal wall, and the anterior and pericardial diaphragm. This combination of defects places patients at particular perioperative risk and requires individualized management during anesthetic care. The following report documents the management of a patient with pentalogy of Cantrell, whose condition was further complicated by severe midline craniofacial abnormalities, including large anterior encephalocele, deficient mandible, tethered tongue, and cleft palate. The case offers insight into the complexity of care in this unique patient population.

From the *Department of Anesthesiology and Pain Medicine

Division of Critical Care Medicine

Department of Otolaryngology, Nationwide Children’s Hospital, Columbus, Ohio.

Accepted for publication April 3, 2018.

Funding: None.

The authors declare no conflicts of interest.

Address correspondence to Richard Hubbard, MD, Department of Anesthesiology and Pain Medicine, Nationwide Children’s Hospital, 700 Children’s Dr, Columbus, OH 43205. Address e-mail to

First described in 1958, the pentalogy of Cantrell (POC) is a congenital syndrome consisting of cardiac anomalies combined with defects of the lower sternum, anterior abdominal wall, and the anterior and pericardial diaphragm.1 This group of defects is thought to derive from abnormal differentiation, migration, and fusion of the embryonic mesoderm early in gestation.2,3 It is an exceedingly rare disease with only 153 cases reported by 1998.3 Despite the strict definition, phenotypic expression of POC is often incomplete, and defects beyond those described are not uncommon.3,4 A large minority of patients have craniofacial or limb anomalies, while defects of the central nervous system, including hydrocephalus, encephalocele, and anencephaly, have also been reported.3–5

Surgical and anesthetic management of children with POC cannot be undertaken without significant risk. Historically, >50% of patients have not survived the perioperative period.3 Published work on the subject within the anesthesia literature is limited with a few case reports describing physiological management under anesthesia for general and cardiac surgery.6–8 The following report details the care of a patient whose clinical presentation included not only POC but also multiple airway anomalies, as well as a giant anterior encephalocele. Her course and outcome demonstrate the complexity of management of neonates with midline defects involving multiple organ systems, both in the operating room and intensive care settings.

Written consent from family was obtained before submission.

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A 3-week-old girl was admitted to the emergency department of a tertiary care pediatric hospital after an observed cyanotic episode. The patient’s physical examination was significant for a large anterior encephalocele, deficient sternum with pulsatile midline chest, micrognathia, cleft palate, deficient mandible, and tethered tongue (Figure 1). A 16-week prenatal ultrasound had demonstrated multiple congenital anomalies thought to be incompatible with long-term survival. In accordance with parental wishes, the pregnancy was carried to term, and the patient was discharged home on hospice care after birth. At home, the baby initially fed and started to gain weight. However, on day-of-life (DOL) 21, her parents witnessed a 20- to 30-second episode of apnea and cyanosis. At this point, they reversed their initial decision and elected to pursue aggressive care.

Figure 1.

Figure 1.

The patient was admitted to the pediatric intensive care unit (PICU), where an echocardiogram revealed ectopia cordis, dextrocardia, 2 small apical muscular ventricular septal defects, a single coronary artery, bilateral superior vena cava, and a patent foramen ovale. Because she was hemodynamically stable, no cardiac intervention was planned at that time. According to the parents’ wishes, comprehensive magnetic resonance imaging (MRI) was ordered to evaluate for possible surgical palliation of the encephalocele, a workup that would require endotracheal intubation and general anesthesia (Figure 2).

Figure 2.

Figure 2.

Initial bedside fiber optic nasopharyngoscopy by otolaryngology proved impossible due to obstruction of both nasal passages by the large encephalocele. The patient was then transported to the operating room for direct laryngoscopy, bronchoscopy, and endotracheal intubation before transport to the MRI suite. Routine American Society of Anesthesiologists’ monitors were applied, and intravenous access was in place. A mask was applied to the face with fraction of inspired oxygen of 100%, and gradually increasing concentrations of sevoflurane were administered. Although a large leak was appreciated secondary to the patient’s anatomy, general anesthesia was successfully induced with maintenance of spontaneous ventilation followed by direct laryngoscopy by the pediatric otolaryngologist. The direct laryngoscopy was notable for a grossly abnormal palate and nasopharyngeal mass (see Figure 3), with likely involvement of encephalocele, grade 1 view (when utilizing cricoid pressure), and normal supraglottic and glottic structures. Rigid bronchoscopy revealed a tortuous trachea and evidence of tracheomalacia. Bolus doses of fentanyl (4 μg total) and dexmedetomidine (1 µg total) were administered to maintain anesthesia while preserving spontaneous ventilation during the procedure. Oxygen was administered via side port on the bronchoscope. After completion of the airway evaluation, the patient’s trachea was intubated with a 3.0 cuffed endotracheal tube over the rigid bronchoscope. Rocuronium 2 mg was administered before transport to the MRI suite. Given the known difficulty with both ventilation and endotracheal intubation, the decision was made to keep the patient’s trachea intubated on return to the PICU.

Figure 3.

Figure 3.

Over the next several days, attempts to wean ventilator support toward extubation failed because of hypercarbic acidosis. When on DOL 25, the patient was noted to be taking spontaneous breaths at 7 mL/kg with an adequate respiratory rate, the PICU team planned to extubate the trachea with the pediatric otolaryngology team in attendance. Unfortunately, within 20 minutes, she developed increased work of breathing with significant oxygen desaturations, that were unresponsive to repositioning and jaw thrust. Her trachea was reintubated via direct laryngoscopy (grade 1 view) utilizing rocuronium, fentanyl, and atropine.

Multiple discussions with family after this event resulted in a decision to optimize toward a second attempt at tracheal extubation, with no plans for reintubation in the event of a second decompensation. On DOL 31, after successful spontaneous breathing trials over 2 days, the patient’s trachea was extubated. She rapidly developed increased work of breathing, oxygen desaturations, and finally bradycardia. Cardiac arrest followed while the patient was in her mother’s arms.

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This case elucidates a number of essential factors in the anesthetic and critical care management of patients with POC, the first being the wide spectrum of clinical presentations that may be encountered. Our patient had sternal and cardiac defects, both classic signs of POC, but lacked clear evidence of diaphragmatic or midline abdominal wall defects. This would classify her as POC type 3 (ie, “incomplete expression”).9 At the same time, she demonstrated multiple midline defects atypical of POC, notably her giant encephalocele and craniofacial anomalies.

Whatever the clinical presentation, multispecialty planning, with emphasis on early and aggressive cardiopulmonary support and clear prioritization of care, is key to successful outcomes. In neonates with prenatally diagnosed ectopia cordis, elective intubation at the time of birth (sometimes while still under placental circulation) is typically performed, to be followed by chest/abdominal wall closure once hemodynamically stable.10 Even with such coordinated care, mortality remains very high, largely due to compression of the thoracic contents after sternal reconstruction.9,10 Given the initial plans for hospice, diagnostic workup and therapeutic planning were delayed until the patient began to demonstrate signs of clinical deterioration.

Furthermore, the survival of these patients in the neonatal period is largely dependent on successful management of severe defects in multiple organ systems, the failure of any one of which can prove fatal. In this case, the primary cause of death appeared to be unrelated to the patient’s cardiac and neurological conditions, and was instead secondary to respiratory insufficiency in the setting of upper airway obstruction. Her condition may have been worsened by pulmonary hypoplasia (commonly seen in patients with ectopia cordis), as well as poor thoracic expansion in the setting of sternal defects.9,10

Finally, the ethical implications of aggressive care for neonates with very little chance of survival must be considered. The desire to avoid potentially futile treatment must be balanced against respect for the decision-making capacity of parents. In this case, providers had to negotiate a rapid change in the goals of care for a critically ill neonate. The institution’s palliative care services proved valuable in helping to communicate the perspectives of multiple specialties in regard to care options in this case. Because the patient’s anatomy made tracheostomy unfeasible, the parents elected to forego prolonged intubation, and the patient was allowed to die more peaceably.

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Name: Richard Hubbard, MD.

Contribution: This author helped care for the patient, and write and review the manuscript.

Name: Seth Hayes, MD.

Contribution: This author helped care for the patient, and write and review the manuscript.

Name: Holly Gillis, MD.

Contribution: This author helped care for the patient, and write and review the manuscript.

Name: Spencer Lindsey, MD.

Contribution: This author helped care for the patient, and write and review the manuscript.

Name: Prashant Malhotra, MD, FAAP.

Contribution: This author helped care for the patient, and write and review the manuscript.

Name: Tariq Wani, MD.

Contribution: This author helped care for the patient, and write and review the manuscript.

Name: Joseph D. Tobias, MD.

Contribution: This author helped care for the patient, and write and review the manuscript.

Name: Ralph Beltran, MD.

Contribution: This author helped care for the patient, review the manuscript, and acted as a mentor and senior author.

This manuscript was handled by: Raymond C. Roy, MD.

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