Anaesthetic implications of Costello syndrome
KELLY KATCHER MD* , MARCELLA BOTHWELL MD†‡– AND JOSEPH D. TOBIAS MD*‡§
Departments of *Anesthesiology, †Surgery, and ‡Child Health, §The Divisions of Pediatric Critical Care/Pediatric Anesthesiology and –Otolaryngology, The University of Missouri, Columbia, MO, USA
Costello syndrome is a disorder that primarily involves ectodermal tissues and is characterized by mental and growth retardation, distinctive coarse facies, redundant skin (neck, palms and soles), and papillomata (perioral, nasal and anal). Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal
papillomata and choanal atresia. A significant percentage of patients also have cardiac involvement which may manifest as congenital heart defects, arrhythmias, valvular dysfunction, or hypertrophic cardiomyopathy.
Central nervous system involvement includes developmental delay and seizure disorders while endocrine abnormalities have been reported including hypothalamic–pituitary dysfunction resulting in hypopituitarism, hypothyroidism, and hypoadrenalism. The authors present a 2-year old child with Costello syndrome who required anaesthesia for direct laryngoscopy, rigid bronchoscopy, bilateral pressure equalization tubes and tonsillectomy. The perioperative implications of the syndrome are discussed.
Anesthetic considerations in the child with Costello syndrome: risks of cardiac arrest upon induction of anesthesia
Costello syndrome is a rare genetic disorder that affects multiple organ systems and results in significant physiologic, metabolic, and anatomic anomalies. We present a case of a patient with Costello syndrome who suffered a cardiac arrest during the induction of general anesthesia (GA).
A 4-month-old infant with Costello syndrome (4.3 kg) presented for placement of a central venous catheter (CVC) under GA. The patient, who was thought to have Leprechaunism syndrome at the time of the procedure, had undergone uneventful GA on three previous occasions. Other diagnoses to note were resting sinus bradycardia, seizures, gastroesophageal reflux and episodic refractory hypoglycemia. On physical exam, the patient presented with failure to thrive and dysmorphism characteristic: large eyes, large low-set ears, wide nostrils, and fine sparse facial hirsutism. The patient’s trachea was successfully intubated without difficulty on two prior occasions.