Chapter 74: CORNELIA DE LANGE SYNDROME

YOUR PATIENT

A 6-month-old infant with a history of Cornelia de Lange syndrome, seizures, and severe gastroesophageal reflux disease presents for a laparoscopic Nissen fundoplication.

• Physical examination: The patient is 3.5 kg and has short limbs, bushy fused eyebrows, long eyelashes, ptosis, and a depressed nasal bridge. A nasoduodenal tube is in place, and the patient has copious saliva in the mouth that she continuously spits up. On respiratory examination, there are mild rhonchi in the right lower lobe, and there is a systolic murmur throughout the precordium.

• Medications: Dilantin, Zantac, Colace suppositories.

PREOPERATIVE CONSIDERATIONS

Cornelia de Lange syndrome (also known as Brachmann-de lange syndrome) is a relatively rare syndrome. It is characterized by a distinct facial appearance, growth retardation, mental and psychomotor retardation, limb anomalies (short or missing limbs), bushy fused eyebrows, excessive body hair, vision and hearing abnormalities, gastroesophageal reflux, renal anomalies, seizures, and heart defects. These patients may also have behavioral problems, including self-stimulation, aggression, and autistic-like behavior.

Rhonchi in the right lower lobe may be the result of chronic aspiration due to gastroesophageal reflux disease. Consider a preoperative pulmonary toilet and/or bronchodilator therapy.

Patients with a murmur need a preoperative echocardiogram, given the association of Cornelia de Lange syndrome with cardiovascular lesions.

ANESTHETIC MANAGEMENT

• Careful airway assessment is essential to ensure that a rapid-sequence intubation is safe in this patient, who may have a challenging airway if the thyromental distance is noted to be limited. Carefully weigh the risk of aspiration against the risk of a rapid-sequence induction in this patient with a potentially difficult airway.

• Establish IV access in the preoperative area, and administer an antisialogogue to dry up oral secretions. Perform rapid-sequence intubation if it is deemed that the patient is not at risk for a difficult intubation. If the airway is challenging, consider awake laryngoscopy or performing a mask induction and maintaining spontaneous ventilation until the endotracheal tube (ETT) is secured by fiberoptic intubation, understanding that the risk of aspiration exists. Consider premedication with an H2 blocker and a prokinetic agent to decrease aspiration risks. Craniofacial dysostosis may make mask fitting difficult.

• These patients can have small airways, and you should be prepared with tubes ranging from far below what you would expect given the patient’s age to the appropriate-sized ETT for intubation.

CONTROVERSIES

The use of rapid-sequence intubation versus awake fiberoptic laryngoscopy given a possible difficult airway.

FACTOID

A diminished response to pain has been seen in some patients with Cornelia de Lange syndrome in addition to heat intolerance, ...