WEB ENHACEMENT
Patient 1. Female full term infant who was hypotonic and noted to have dysmorphic features at birth. Dysmorphic features included bilateral cataracts, micrognathia, patent ductus arteriosus, atrial septal defect, and 2-3 toes syndactyly. SLOS was diagnosed in the newborn period and the child was started on dietary cholesterol supplementation at 3 weeks of age. Severity score is 28. Child has problems with gastroesophageal reflux, but no history of aspiration. Pyloric stenosis was diagnosed at 3 months of age. Pyloric myotomy and gastrostomy tube placement were performed at the same time. Difficult intubation was documented at that time. We performed three anesthetics as described in table 2 of the manuscript. During all anesthetics easy mask airway was noted and all intubations were performed using a fiberoptic bronchoscope.
Patient 2. Female full term infant with history of poor suck and dysmorphic features including micrognathia, critical coarctation of the aorta and patent ductus arteriosus, short limbs and 2-3 toe syndactyly. This patient is patient 12 in reference 1. Severity score is 17. The coarctation was surgically repaired at 8 weeks of age. A gastrostomy tube was placed at 8 months of age. The diagnosis of SLOS was made at 15 months of age and dietary cholesterol supplementation was started at that time. This child was treated for hypertension until 18 months of age. We performed one anesthetic as described in table 2.
Patient 3. Male born at 37 weeks gestation who was hypotonic and difficult to feed after birth. Dysmorphic features included mild facial dysmorphism, high arched palate, and 2-3 toes syndactyly. Severity score is 11. Diagnosis of SLOS was first considered at three days of age and cholesterol supplementation was initiated at 10 weeks of age. Prior to enrolment in our protocol the patient underwent one anesthesia with intubation for magnetic resonance imaging. We performed two anesthetics as described in table 2. In all anesthetics, easy mask airway was noted and all intubations were performed using a fiberoptic bronchoscope.
Patient 4. Male born at 36 weeks gestation who had meconium aspiration. Evaluation at 9 months of age was notable for failure to thrive, global developmental delay, left ptosis, left exotropia, rotary nistagmus, and sensorineural hearing loss. Dysmorphic features include mild facial dysmorphism, hypospadias and mild 2-3 toes syndactyly. Severity score is 11. This child has marked behavioral problems including self-injurious behavior, temper tantrums, and short attention span. SLOS or a variant of SLOS was initially diagnosed at 6 years of age. We anesthetized the child for a magnetic resonance imaging study of the brain and a skeletal survey. Given the behavior abnormalities, premedication was required. Ketamine (10 mg/kg) and midazolam (0.4 mg/kg) were given orally and yielded adequate sedation. We performed an inhalation induction and fiberoptic intubation as describe in table 2. Intubation, maintenance, and emergence were uneventful.
Patient 5. Male born at 38 weeks gestation who was hypotonic and was a poor feeder after birth. Dysmorphic features included mild facial dysmorphism including micrognathia, exotropia, and 2-3 toes syndactyly. Severity score is 6. A clinical diagnosis of SLOS was made at 7 ˝ months of age. Child was on a high cholesterol content diet prior to the diagnosis of SLOS. The child had one anesthetic for a magnetic resonance imaging of the brain. Induction of anesthesia was performed with inhalation of a halogenated agent. During the first attempt of fiberoptic laryngoscopy the patient developed laryngospasm, at which time a muscle relaxant was administered. No other problems were noted.
Patient 6. Male born at 39 weeks gestation who was hypotonic and had a weak suck after birth. Dysmorphic features included micrognathia, minimal hypospadias, and 2-3 toes syndactyly. Cholelithiasis was diagnosed soon after birth. Severity score was 11. SLOS was diagnosed in the second week of life and dietary cholesterol supplementation was initiated. The child had two anesthetics for magnetic resonance imaging and spectroscopy of the brain. In both cases, anesthesia was induced with inhalation of sevoflurane and nitrous oxide in oxygen and atropine was given after intravenous access was obtained. No problems were encountered at any stage of the child’s two anesthetics.
Patient 7. Female born at 37 weeks gestation by cesarean section for breech presentation. Child had poor sucking reflex and marked hypotonia. Dysmorphic features included cleft palate, micrognathia, small tongue, postaxial polydactyly of all four limbs, single palmar creases, and 2-3 toes syndactyly. Child developed bilateral cataracts postnatally. Severity score is 33. A diagnosis of SLOS was made at 3 months of age and dietary cholesterol supplementation was instituted at that time. Other medications included metoclopramide and cimetidine. We performed three anesthetics at 12, 36, and 60 weeks of age. In all three instances, the patient had induction of anesthesia with sevoflurane, nitrous oxide and oxygen. Atropine was given after intravenous access was obtained. Fiberoptic intubation of the trachea was accomplished without problems. After extubation in the first anesthetic the patient presented airway obstruction and a nasopharyngeal airway was needed to relieve it. The child was observed in the intensive care unit for 16 hours after the first anesthetic.
Patient 8. Male born at 32 weeks gestation by emergency cesarean section for fetal distress and breech presentation. Child was hypotonic and had a gastrostomy tube placed for poor feeding. Dysmorphic features included microcephaly, micrognathia, short penis with chordee, and 2-3 toes syndactyly. Severity score is 6. SLOS was diagnosed at one month of age. Cholesterol therapy was initiated at 2.5 months of age. Other medications include metoclopramide and ranitidine. Induction of anesthesia was done with inhalation of sevoflurane and nitrous oxide in oxygen. Atropine was given prior to intubation. No complications occurred.
Patient 9. 46, XY female born at 38 weeks gestation. Noted to be hypotonic and a poor feeder after birth. Dysmorphic features included microcephaly, micrognathia, submucous cleft palate, atrial septal defect, small kidneys, ambiguous genitalia and 2-3 toes syndactyly. Hypertension requiring treatment with diltiazem was present. Gastrostomy tube was placed for feeding. Gastroesophageal reflux and constipation are persistent problems. This child is patient 13 in reference 1. Severity score is 31. SLOS was diagnosed at birth and dietary cholesterol supplementation was initiated. One anesthetic for magnetic resonance imaging of the brain had been previously aborted because of inability to intubate. We performed a general anesthetic for magnetic resonance imaging of the brain and a dental examination. Induction of anesthesia was done with inhalation of sevoflurane and nitrous oxide in oxygen. Fiberoptic intubation was done nasally. Atropine was given prior to intubation. No complications were observed.
Patient 10. Male born at 41 weeks gestation. Child was hypotonic after birth. Dysmorphic features included calcaneovalgus deformity of the right foot, and 2-3 toes syndactyly. Severity score is 6. Child failed to thrive and carried a diagnosis of mild cerebral palsy until two years of age when a diagnosis of SLOS was made. Cholesterol supplementation was initiated at 27 months of age. We performed a general anesthetic for magnetic resonance imaging of the brain and a dental examination. Induction of anesthesia was done with inhalation of sevoflurane and nitrous oxide in oxygen and fiberoptic intubation was done nasally. Atropine was given prior to intubation.
Patient 11. 46, XY male infant born at 39 weeks gestational age. Child was hypotonic and had a poor suck and required nasogastric feeding until a gastrostomy tube was placed at 3 weeks of age. Nissen fundoplication was done at 6 weeks of age for severe gastroesophageal reflux. Dysmorphic features include microcephaly, microglossia, micrognathia, ambiguous genitalia, postaxial polydactyly of the hands, and 2-3 toes syndactyly. Severity score is 33. Child had a history of hypertension first noted at 2 weeks of age treated with captopril. SLOS was diagnosed in the neonatal period and cholesterol supplementation was initiated at one week of age. Anesthesiologists from the outside institutions reported to the parents that intubation was difficult. On a previous anesthetic for magnetic resonance imaging of the brain in our institution, a pediatric anesthesiologist performed 4 direct laryngoscopies in order to intubate the trachea. Subsequently, we performed another anesthetic for magnetic resonance imaging of the brain and fiberoptic intubation of the trachea was achieved without problems.
Patient 12. Female born at 39 weeks by cesarean section for breech presentation. Weak cry, hypotonia, and poor feeding were noted after birth. Dysmorphic features included micrognathia, high arched palate, and 2-3 toes syndactyly. Severity score is 11. SLOS was diagnosed at 2 days of age. Dietary cholesterol supplementation using egg yolk was initiated but not tolerated. Gastrostomy tube was placed at 12 weeks of age. We performed an anesthetic for a magnetic resonance imaging of the brain. Inhalation induction and fiberoptic intubation of the trachea were performed without complications.
Patient 13. Male born at term and described as patient 1 in reference 1. Dysmorphic features include micrognathia, hypospadias, and 2-3 toes syndactyly. Severity score is 11. SLOS was diagnosed at one month of age and cholesterol therapy was initiated. Child underwent bilateral inguinal hernia repair and orchidopexy. Mother was told at the time that this child required a smaller endotracheal tube than predicted for his age. We performed an anesthetic for magnetic resonance imaging of the brain and a dental examination. Inhalation induction was done with sevoflurane and nitrous oxide in oxygen. Mivacurium was given prior to fiberoptic intubation of the trachea that was done nasally and without trauma.
Patient 14. Female born at 39 weeks gestation. Dysmorphic features include microcephaly, micrognathia, cleft soft palate, patent ductus arteriosus, atrial septal defect, postaxial polydactyly of the hands and feet, and 2-3 toe syndactyly. Postnatal cataracts developed. Gastrostomy tube was placed at 2.5 weeks for poor feeding. Severity score is 39. SLOS was diagnosed soon after birth and cholesterol supplementation was started when she was seven days old. Surgical history is notable for gastrostomy tube/Nissen fundoplication and cleft palate repair. Intubation was reported to be difficult during those two anesthetics. We performed an anesthetic for magnetic resonance imaging of the brain and a dental examination. Inhalation induction was done with sevoflurane and nitrous oxide in oxygen. We performed fiberoptic intubation of the trachea through the right nare without trauma.
Reference
1. Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD: Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. Am J Med Genet 2000; 94: 214-27.