Anesthetic considerations in a patient with Cornelia de-Lange syndrome.

Cornelia de-Lange syndrome (CdLS) is a relatively rare, genetically heterogeneous, and sporadic disease.[1] There is an estimated prevalence of 1 in 10,000 to 1 in 30,000. In Denmark, there are 65 persons known with CdLS (www.cdl.dk/kort_om_cdl.html). Two-third of CdLS individuals die within their 1st year of living, primarily due to aspiration pneumonia. Later in life mortality is mostly due to infections and bowel obstruction. The syndrome typically has clinical manifestations of primordial growth failure, mental retardation, neurosensory, musculoskeletal, craniofacial, cardiopulmonary, and gastrointestinal abnormalities.[2]

A 49-year-old woman, height 140 cm and weight 24 kg [Figure 1], diagnosed with CdLS was hospitalized with difficulty in swallowing and with severe dehydration. She was posted for gastroscopy under general anesthesia. She was mentally retarded with only high-pitched growling cries, almost blind and deaf, growth retarded with craniofacial and abnormal extremities. As newborn, she had a ventricular septal defect with spontaneous closure and suffered from repeated pneumonias. Presently she does not have any signs or symptoms of epilepsy or cardiopulmonary compromise.

Figure 1

This is a photo of a 49-year-old Cornelia de-Lange syndrome patient. It is easy to see the external abnormal anatomy. It was impossible to see the mouth-pharyngeal and -laryngeal anatomy before she was anesthetized. Consent to use photo given by Bente Mills (Caretaker)

Preanesthetic checkup was challenging because the patient is mentally retarded and nonco-operative. Adequate airway assessment was not possible despite anticipating a difficult airway with high risk of aspiration. Based on medical history, talking to her caretaker and considering previous CdLS case reports, a basic anesthetic plan was made. With the patient lying in the lateral position, we monitored with pulse-oximetry, electrocardiography, and noninvasive blood pressure. Awake fiberoptic intubation was impossible due to the lacking cooperation. Anticipating regurgitation, hypoplastic larynx, and difficult airway, we kept suction, difficult intubation trolley, various sizes of laryngoscope blades, and endotracheal tubes ready. She was induced using sevoflurane and kept on spontaneous respiration. Mouth and oro-pharynx was sprayed with lidocaine spray (1%) 3 times. With laryngoscope (MacIntosh laryngoscope size 2 blade) it was possible to see aditus laryngis (Cormack Lehane score 3). Intubation was done in first attempt using an endotracheal tube stylet. After intubation the patient was maintained on sevoflurane, remifentanil infusion, and volume-controlled ventilation. Gastroscopy was impossible due to oropharyngeal abnormalities. The awakening was prolonged with periods of insufficient spontaneous respiration. With the use of capnography, pulse-oximetry and tidal volume she was extubated uneventfully (still sleeping) after 1 h, observed in the postoperative care unit and after 4 h discharged to the general ward without any adverse events. At the postoperative care unit she was shielded, observed with pulse-oxymetry and noninvasive blood pressure. There was a suction device ready in case of aspiration. Her caretaker was present during the entire period except when she was fully anesthetized.

Cornelia de-Lange syndrome is a rare disease. Anesthesiologist encountering such patients is rare. When encountered, such patients are challenging.[2] Anticipated difficult airway, use of awake fiberoptic intubation, hyperactive airway, risk of aspiration, convulsion, cardiac arrhythmias, prolonged apnea with the use of suxamethonium, malignant hyperthermia with use of halothane and nitrous oxide, and prolonged awakening are well-described.[12] Drugs such as sevoflurane, isoflurane, ketamine, etomidate, and narcotics as induction agents with dose adjustments after renal function are suggested.[12]

Background knowledge of such a syndrome, considering patient's past and present medical history and getting information from the patient's caretaker is important. Induction with sevoflurane using lidocaine spray for the airways with the patient on spontaneous respiration eases laryngoscopy and intubation. It is also the safest way of induction in an unknown airway anatomy with a nonco-operative and agitated patient. It is suggested to use stomach acid neutralizing drugs such as Sodium citrate if possible. Use of safer anesthetic drugs, reducing procedural and or anesthesia time with anticipation of potential complications and adequate precautions will definitely have favorable anesthetic outcomes. Awareness of the importance of keeping the patient asleep during extubating will minimize the risk of agitation and complications in the post anesthetic process. It is also recommended and well-described[3] that there should be, for the patient, a well-known person at all time to minimize agitation and misconceptions.