Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndrome.

Abstract

SMITH-LEMLI-OPITZ syndrome (SLOS) is an autosomal recessive disorder with an incidence of between 1 in 26,500 pregnancies in Canada and 1 in 50,000 pregnancies in the United States. The syndrome results from an inborn error of cholesterol biosynthesis involving a deficiency of 3β-hydroxysterol Δ 7 -reductase, the enzyme that catalyzes the reduction of 7-dehydrocholesterol to cholesterol. As a result, patients with SLOS have abnormal embryonic development, high plasma concentrations of 7-dehydrocholesterol, and usually decreased plasma concentrations of cholesterol. This biochemical defect is associated with a broad spectrum of clinical manifestations with potentially profound anesthetic implications. Patients with SLOS cans have severe growth failure, congenital anomalies affecting most organ systems, early death, developmental delay, and self-injurious and ritualistic behavior. Of special concern to anesthesiologists are the typical dysmorphic facial features, including micrognathia, cleft palate, and a small and abnormally hard tongue, which can present a challenge in airway management of patients with SLOS. The broad spectrum of congenital anomalies and potential increase in lifespan with dietary cholesterol replacement therapy make it very likely that diagnostic and therapeutic interventions requirign anesthesia will be needed in patients with SLOS. However, since the discovery of the biochemical defect in SLOS, little has been reported on the anesthetic management of these patients. In this report, we describe the administration of 20 anesthetics in 14 patients with confirmed biochemical diagnosis of SLOS. Our focus was on airway management, and because of previous reports of difficult intubations in some of our patients, we chose to use fiberoptic laryngoscopy as the initial technique to achieve tracheal intubation.